Monday, August 10, 2026 - Week 33

Make sure to watch #S10e213 first! https://www.linkedin.com/posts/curesyngap1_camp4-trial-approved-in-australia-argentina-activity-7491598254027984896-wWTg

145 done! Out of 516 in US per last census: (https://www.linkedin.com/posts/curesyngap1_syngap1census-syngap1-census-activity-7478070129340215296-6Hjx)

CLINICAL TRIAL READINESS SURVEY - http://curesyngap1.org/CTRpoll

Do it now, let us figure out the state of our community.

CITIZEN Sign up now! https://www.citizen.health/ai-advocate/syngap1

Everyone with a sick kid needs this.

Different from CONNECT: https://curesyngap1.org/curesyngap1connect

Make sure we know how to reach you.

STUDIES ARE HAPPENING

Albus, thank you to those families. Plug it in.
Combi[o]mics - Thank you for doing this if invited.
Everyone will get an invite to do an ORCA Validation Study, please do this. If you don’t get that email by end of August, bug us. We are only inviting those we can confirm have a mutation.

PERSONAL FUNDRAISERS
Fundraisers advance our mission & help you connect to community

ForAda curesyngap1.org/forada is over $104k of $10k

4Ford curesyngap1.org/4ford is over $20k of $20k

SIBLINGS - Go Porter!
cureSYNGAP1.org/Sibling

THINGS TO LOOK FORWARD TO…

5TH SCRAMBLE FOR SYNGAP, SC – 54 days till October 3rd

Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26

SHOOT FOR SYNGAP, UT – 96 days till November 14th

curesyngap1.org/calendar/shoot-for-syngap1

FIGHT FOR FELIPE, MA - 111 days till November 29th

curesyngap1.org/Fight26

CURE SYNGAP1 CONFERENCE - 115 days until December 3rd & 4th

cureSYNGAP1.org/Reg26 rooms available: ‭cureSYNGAP1.org/denhyatt for $159. In on Wed, out on Saturday.

PUBMED

Pubmed 2026 is at 47. +14 vs the week. (61 last year was +9) We are already at the 3rd highest year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

USA 🇺🇲: Use your ICD-10, F78.A1

SOCIAL MATTERS

5,159 LinkedIn. https://www.linkedin.com/company/curesyngap1

1.6k YouTube. https://www.youtube.com/@CureSYNGAP1

11.1k Twitter https://twitter.com/cureSYNGAP1

43.7k Insta https://www.instagram.com/curesyngap1

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10

Episode 214 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

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Friday, August 7, 2026 - Week 32

CAMP4 - Gaining momentum

Approval for trials in Australia & +$50M of cash from investors:https://investors.camp4tx.com/news-releases/news-release-details/camp4-therapeutics-secures-australian-regulatory-clearance
Profile on CNBC Cures: https://www.cnbc.com/2026/08/06/camp4-advances-rare-disease-treatment-for-syngap1-into-human-trials.html Where they mentioned approval in Argentina!

$CAMP closed at $4.53 yesterday. https://www.google.com/finance/beta/quote/CAMP:NASDAQ

MAKE SURE YOU ARE REGISTERED WITH CONNECT

https://curesyngap1.org/curesyngap1connect/

USA 🇺🇲: Use your ICD-10, F78.A1

CITIZEN

SOCIAL MATTERS

5,156 LinkedIn. https://www.linkedin.com/company/curesyngap1

1.6k YouTube. https://www.youtube.com/@CureSYNGAP1

11.1k Twitter https://twitter.com/cureSYNGAP1

43.7k Insta https://www.instagram.com/curesyngap1

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10

Episode 213 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

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Future4Ford. 2Q26 #SYNGAP1Census = 1,806 Patients (+45) $CAMP #ValproateDemandBetter #S10e212

Saturday, July 4, 2026 - Week 27

Future4Ford! Already at $3,500+! Share. Thank you to the Family.

This is the model for newly diagnosed, call us, set up a page, help us help your loved one. cureSYNGAP1.org/4Ford

CENSUS - 1,806 https://curesyngap1.org/blog/syngap1-census-2026-update-45-q2-total-1806/

Per https://docs.google.com/spreadsheets/d/1oJwMysR2wyTxe91zLlKJglNa0NySPxkBF0PRiV6mBmM/edit?usp=sharing, no change in Germany, UK, or Netherlands. This is clearly wrong.

MERCH - 9 days left!

New t-shirts! Buy for everyone! There are some funny ones this year and the classics. cureSYNGAP1.org/Bonfire

CAMP4 has been busy!

Meeting with one of our families: https://www.linkedin.com/posts/syngap1-share-7473374060614201345-SeKO/

Shoutout on NASDAQ: https://www.linkedin.com/posts/camp4-therapeutics_syngap1awareness-regrna-syngap1-activity-7474823632972820480-UMqi

$CAMP closed at $4.43 yesterday. https://www.google.com/finance/beta/quote/CAMP:NASDAQ

BONES – This is not medical advice, I am not a doctor. Talk to a doctor AND know your facts.

https://curesyngap1.org/blog/navigating-a-lifetime-of-diagnoses-michaels-syngap1-journey-and-the-effects-of-anti-seizure-medications-on-bone-density/

Valproate is the active Ion, it comes from Valproic Acid (Depakene), Sodium Valproate or Divalproex Sodium (Depakote). They all cause bone loss by stoping stomach from absorbing, then robbing bones, then flushing out. More and longer is worse. Vitamin D and Calcium can help but they need to start early and it’s better to just find another drug. Also insurance likes it because it’s cheap and old – demand better.

“Valproic acid and clobazam were commonly used for epilepsy treatment, while risperidone, aripiprazole, and guanfacine were commonly used for behavior management. Valproate and lamotrigine were more effective at reducing seizure frequencies or maintaining seizure freedom than other anti-seizure medications.” Clinical signatures of SYNGAP1-related disorders through data integration https://pmc.ncbi.nlm.nih.gov/articles/PMC12419475/

THINGS TO LOOK FORWARD TO…

5TH SCRAMBLE FOR SYNGAP, SC – 91 days till October 3rd

Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26

SHOOT FOR SYNGAP, UT – 133 days till November 14th

curesyngap1.org/calendar/shoot-for-syngap1/

FIGHT FOR FELIPE, MA - 148 days till November 29th

curesyngap1.org/Fight26

CURE SYNGAP1 CONFERENCE - 152 days until December 3rd & 4th

cureSYNGAP1.org/Denver rooms available: ‭cureSYNGAP1.org/denhyatt for $159. In on Wed, out on Saturday.

PUBMED

Pubmed 2026 is at 40. +13 vs the week. (61 last year was +9) We are already at the 4th highest year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

Thanks to Dr. Stephen Smith for this exciting paper, especially in the context of ASOs…
Genetic rescue of disrupted synaptic protein interaction network dynamics following SYNGAP1 reactivation https://pubmed.ncbi.nlm.nih.gov/42362191/

USA 🇺🇲: Use your ICD-10, F78.A1

SOCIAL MATTERS

5,106 LinkedIn. https://www.linkedin.com/company/curesyngap1

1.59k YouTube. https://www.youtube.com/@CureSYNGAP1

11.1k Twitter https://twitter.com/cureSYNGAP1

43.7k Insta https://www.instagram.com/curesyngap1

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10

Episode 212 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

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Friday, June 26, 2026 - Week 26

BIO was good. Need a mouse lab to test molecules all year long.

https://www.linkedin.com/posts/graglia_syngap-syngap1-mousemodels-ugcPost-7476041484408901633-Zldd/

MDBR was big, not just Justin A.! Thank you Dr. McKee, Heather and others. cureSYNGAP1.org/MDBR26Recap

MERCH - 19 days left!

New t-shirts! Buy for everyone! There are some funny ones this year and the classics. cureSYNGAP1.org/Bonfire

GENETIC TESTING

Valuable resource as you have questions. curesyngap1.org/GT

WARRIORS - Phoenix and Kenna

cureSYNGAP1.org/Warrior

THINGS TO LOOK FORWARD TO…

WEBINAR: Understanding ASOs & Informed Consent

June 30 4:30 ET curesyngap1.org/calendar/understanding-asos-informed-consent/

5TH SCRAMBLE FOR SYNGAP, SC – 99 days till October 3rd

Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26

SHOOT FOR SYNGAP, UT – 141 days till November 14th

fb.watch/HRnwf9FnEB/

FIGHT FOR FELIPE, MA - 155 days till November 29th

curesyngap1.org/Fight26

CURE SYNGAP1 CONFERENCE - 159 days until December 3rd & 4th

cureSYNGAP1.org/Denver rooms available: ‭cureSYNGAP1.org/denhyatt for $159. In on Wed, out on Saturday.

PUBMED

Pubmed 2026 is at 38. +12 vs the week. (61 last year was +9) We are already at the 4th highest year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

Props to Dr. Frazier for yet another paper on SYNGAP1 based on his study, one of the best grants ever.

https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70337

USA 🇺🇲: Use your ICD-10, F78.A1

SOCIAL MATTERS

5,074 LinkedIn. https://www.linkedin.com/company/curesyngap1

1.59k YouTube. https://www.youtube.com/@CureSYNGAP1

11.1k Twitter https://twitter.com/cureSYNGAP1

43.8k Insta https://www.instagram.com/curesyngap1

$CAMP closed at $3.92 yesterday.

https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10

Episode 211 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

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Friday, June 19, 2026 - Week 25

June 21 is SYNGAP1 Awareness Day, but we have made it SYNGAP1 Awareness month! Why 6/21? Because 6p21.32 Donate! cureSYNGAP1.org/Donate

ThisIsOursToLose & #BurdenHopeProgress watch #S10e208 https://curesyngap1.org/podcasts/syngap10/tony-update-thisisourstolose-more-great-results-from-camp4-nightofimpact-in-9-days-s10e208/

New family email, very good, lots of questions. It’s all here. Reach out, we are here for you and you are welcome in this community – you are part of it whether you like it or not.

Raise money. Join our host committee for 2nd SF event next year.
Believe that we are doing the best we possibly can, and you would be adrift without a PAG. If you think this is painful, imagine if we weren't here!
Register for the Conference. Book tickets to DEN now. cureSYNGAP1.org/Denver
Join us -- make this org better for all of us and all our kids for all their lives.

Complex work doesn't fit neatly in 10 minutes anymore... Health Economics and Market Access work is going well, we will put out an RFP shortly.

NATURAL HISTORY
Goes On! Make sure you are in it. https://curesyngap1.org/resources/studies/syngap1-prommis/

Orlando/McKee Grant "Validating Remote Developmental Assessments in SYNGAP1-Related Disorders" cureSYNGAP1.org/PR49

🤖 ARI Sign up now, s/he keeps getting better, and then connect to Citizen Health, if you are not on Citizen Health, fix that.

https://www.citizen.health/ai-advocate/syngap1
https://ari.citizenhealth.com/

KUDOS

The fifth MDBR, Justin Albrecht rode 70 remote in NC. Raised $2k.
Rachel Jasiczek (Yah-she-check) was a guest on Remarkable Futures Podcast - https://open.spotify.com/episode/7dYmHcXEu58H4C8VCoZ9V1?si=x3xvui86TY2cyGHyS3mGDQ
Collective: CURE SYNGAP1 Collective - cureSYNGAP1.org/PR48 Collective page - cureSYNGAP1.org/Collective

More fundraisers!
WARD - Shoot for SYNGAP on November 14th in Utah! https://fb.watch/HRnwf9FnEB/

Another in Boston in the works…

WEBINAR: Understanding ASOs & Informed Consent

June 30 4:30 ET https://curesyngap1.org/calendar/understanding-asos-informed-consent/

5TH SCRAMBLE FOR SYNGAP, SC – 106 days till October 3rd

Classic case of a small event becoming an institution!

cureSYNGAP1.org/Scramble26

CURE SYNGAP1 CONFERENCE - 166 days until December 3rd

cureSYNGAP1.org/Denver rooms available: ‭cureSYNGAP1.org/denhyatt for $159. In on Wed, out on Saturday.

USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142

PUBMED

Pubmed 2026 is at 37. +12 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

SOCIAL MATTERS

5,058 LinkedIn. https://www.linkedin.com/company/curesyngap1

1.58k YouTube. https://www.youtube.com/@CureSYNGAP1

11.1k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1

$CAMP closed at $4.13 yesterday.

https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10

Episode 210 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

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Wednesday, June 10, 2026 - Week 24

NightOfImpact was 15 Days ago!

Photos: https://jeaniehorton.pixieset.com/curesyngap1nightofimpact2026/

Impact: $800k+, of which $300 was our match.

Industry: Multiple

Academics & Clinicians: Stanford, Berkeley & UCSF. Cross-pollination is always good.

Speakers: Ash, John, Kathryn, Helen Willsey & Me. Only got a video of John, which was a mistake. If you took one, please share. Here is John: https://www.linkedin.com/posts/graglia_still-reflecting-on-our-inaugural-cure-syngap1-ugcPost-7467439971294048256-cUf9/

Dr. Willsey Rocks.

Willsey Press Release https://www.eurekalert.org/news-releases/1130924 (both were at NoI).

A few other points on HRW, as we call her.
Simons: https://curesyngap1.org/blog/future-research-for-syngap1-how-helen-willsey-broke-new-ground-frogs-in-hand/

Willsey in Neuron 2021: https://www.cell.com/neuron/pdf/S0896-6273(21)00002-7.pdf (Frogs)

Birtele in Nature Neuroscience 2023: https://www.nature.com/articles/s41593-023-01477-3 (Confirms)

McCluskey in Nature Communications 2025: https://www.nature.com/articles/s41467-025-57342-3 (GI)
Kostyanovskaya in BioRxiv 2025: https://pubmed.ncbi.nlm.nih.gov/39677731 (cilium)

5TH SCRAMBLE FOR SYNGAP, SC – 114 days

Classic case of a small event becoming an institution!

cureSYNGAP1.org/Scramble26

CURE SYNGAP1 CONFERENCE - 175 days

cureSYNGAP1.org/Pre

USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142

PUBMED

Pubmed 2026 is at 35. +11 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

SOCIAL MATTERS

5,045 LinkedIn. https://www.linkedin.com/company/curesyngap1

1.58k YouTube. https://www.youtube.com/@CureSYNGAP1

11.1k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1

$CAMP closed at $4.34 today.

https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10

Episode 209 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

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Tuesday, May 19, 2026 - Week 21

Personal Update via Syngap Stories:

Page: cureSYNGAP1.org/stories41

Post: https://www.linkedin.com/posts/syngap1stories-syngap1-curesyngap1-share-7462125026276777984-OVBr

ThisIsOursToLose - Three steps to engaging friends with CURE SYNGAP1.

Share CURE SYNGAP1 Video - Burden, Hope & Progress - 1.1k views in 11 days.

cureSYNGAP1.org/Burden https://www.linkedin.com/posts/syngap1-curesyngap1-raredisease-share-7458298251893448706-jfWF

Send IMPACT REPORT - Tool for family, newly diagnosed & Fundraising.

cureSYNGAP1.org/Impact or cureSYNGAP1.org/Impact25

Ask to Donate

curesyngap1.org/donate/

CAMP4

Joining us at the Night of Impact (with Stoke, Acadia, BioMarin, Gondola & others) and…

https://www.biospace.com/press-releases/camp4-therapeutics-to-present-new-preclinical-data-demonstrating-cmp-002-improves-seizure-threshold-and-severity-in-a-model-of-syngap1-related-disorder

INAUGURAL SF NIGHT OF IMPACT, CA – 9 days

Join us this is our only Gala for 2026!

cureSYNGAP1.org/SF26

5TH SCRAMBLE FOR SYNGAP, SC – 137 days

Classic case of a small event becoming an institution!

cureSYNGAP1.org/Scramble26

CURE SYNGAP1 CONFERENCE - 198 days.

cureSYNGAP1.org/Pre26

USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142

PUBMED

Pubmed 2026 is at 31. +10 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

SOCIAL MATTERS

4,964 LinkedIn. https://www.linkedin.com/company/curesyngap1

1.58k YouTube. https://www.youtube.com/@CureSYNGAP1

11.1k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1

$CAMP closed at $4.56 yesterday.

https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10

Episode 208 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

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Friday, May 8, 2026 - Week 19

CURE SYNGAP1 STRATEGY WORKING

Our strategy has always been to derisk SYNGAP1 so that industry will invest and bring their skill and capital to bear. We leverage donor dollars to maximize impact. Yesterday was a great example:

EARNINGS REPORTS

CAMP4 1Q26 Results: $99M https://investors.camp4tx.com/news-releases/news-release-details/camp4-reports-first-quarter-2026-financial-results-and-corporate

We submitted our first regulatory filing for CMP-002 in Australia which positions us to initiate a global first-in-human Phase 1/2 clinical trial in the second half of 2026.

Stoke 1Q26 Results: $411M https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-first-quarter-2026-financial

Lead optimization is underway to identify a clinical candidate for the treatment of SYNGAP1 in 2026. SYNGAP1 is a severe and rare genetic neurodevelopmental disease.

Praxis 1Q26 Results: $1.4B https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-19

Praxis remains on track to nominate a development candidate for each of its three early stage ASO therapeutic initiatives in the first half of 2026: PRAX-090 is designed to address SYNGAP1 loss-of-function (LoF) mutations, a leading cause of severe intellectual disability and epilepsy in DEEs.

CompetitionIsGoodForThePatient

KCNT1 Big Day today - Congratulations

Post: https://www.linkedin.com/posts/graglia_kcnt1-share-7458560855744618496-X10d

Press Release: https://www.linkedin.com/posts/kcnt1-kcnt1-epilepsy-ugcPost-7458487179149787136-kH7c/

WATCH & SHARE OUR VIDEO

Watch and share the new SYNGAP1 Video, it is excellent and helps explain our cause to families and friends. We need to turn them into supporters and donors.

cureSYNGAP1.org/SYNGAP1 -> https://youtu.be/pO3ayASBiEk

INAUGURAL SF NIGHT OF IMPACT, CA – 20 days

Join us this is our only Gala for 2026!

cureSYNGAP1.org/SF26

5TH SCRAMBLE FOR SYNGAP, SC – 148 days

Classic case of a small event becoming an institution!

cureSYNGAP1.org/Scramble26

USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142

PUBMED

Pubmed 2026 is at 28. +9 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

https://pubmed.ncbi.nlm.nih.gov/42093631/ ADHD in patients with #DLG2 #NRXN1 #SHANK3 #SYNGAP1

SOCIAL MATTERS

4,940 LinkedIn. https://www.linkedin.com/company/curesyngap1

1,569 YouTube. https://www.youtube.com/@CureSYNGAP1

11.1k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1

$CAMP closed at $4.46. https://www.google.com/finance/beta/quote/CAMP:NASDAQ

$STOK closed at $32.89. https://www.google.com/finance/beta/quote/STOK:NASDAQ

$ACAD closed at $22.40. https://www.google.com/finance/beta/quote/ACAD:NASDAQ

$PRAX closed at $330.02. https://www.google.com/finance/beta/quote/PRAX:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10

Episode 207 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

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Wednesday, May 6, 2026 - Week 19

Congrats to GETA, CURE SYNGAP1 Australia & CAMP4 for a great weekend. https://www.linkedin.com/posts/syngap1-epilepsy-ugcPost-7457791427486466048-j8SB

WEBINARS!

CURE-ID Webinar tomorrow! Register now. Thu May 7, 2026 1:30pm – 3pm (PDT) cureSYNGAP1.org/cureID

Next week, especially NY families, while you are registering, please make sure to go to this one with Dr. Buxbaum from Mt. Sinai. curesyngap1.org/seaver https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-rarediseaseresearch-activity-7457507565527044096-dDEK

Longitudinal Data Matters - Every six months or more!

Study list!

CURE SYNGAP1 CONNECT http://curesyngap1.org/connect
Citizen Health https://www.citizen.health/ai-advocate/syngap1
Combined Brain
ProMMiS https://www.linkedin.com/feed/update/urn:li:activity:7450196488300728320 & Rare-X, the same week.
OR DSC. #S10e
CURE-ID for Drug responses. Webinar: Thu May 7, 2026 1:30pm – 3pm (PDT) cureSYNGAP1.org/cureID

6th ANNUAL SPRINT FOR SYNGAP1, we raised over $300k! (Gross)

Thank you Tavillas for raising over $170k this will go to the Missense fund. We spent over $¼M on missense last year.

Thank you Emily Barnes for hosting a New England event for families. https://www.linkedin.com/posts/ecarlisle_we-had-an-incredible-sprint-for-syngap-ugcPost-7457845816502845440-nJCd

Thank you to Sara and Sarah for the Virginia event. GREAT WORK. https://www.linkedin.com/posts/sarah-sakly-648544337_syngap1-raredisease-curesyngap1-ugcPost-7456869206341464065-VESz

Thank your Rifton for the donation of the tricycle. Congratulations Matthew! https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-sprint4syngap-activity-7457806850676281344--JR-

Thank you to the Edouard Family! cureSYNGAP1.org/Crafts26

https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-craftsforacure-activity-7457211260242411520-ekPz

INAUGURAL SF NIGHT OF IMPACT, CA – 22 days

Join us this is our only Gala for 2026!

cureSYNGAP1.org/SF26

5TH SCRAMBLE FOR SYNGAP, SC – 150 days

Classic case of a small event becoming an institution!

cureSYNGAP1.org/Scramble26

USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142

PUBMED

Pubmed 2026 is at 27. +10 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

SOCIAL MATTERS

4,931 LinkedIn. https://www.linkedin.com/company/curesyngap1

1.56k YouTube. https://www.youtube.com/@CureSYNGAP1

11.1k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1

$CAMP closed at $3.97 Friday.

https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10

Episode 206 of #Syngap10 #CureSYNGAP1 #Podcast

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Monday, April 20, 2026 - Week 17

CURE SYNGAP1 joins the Haystack Project in petitioning FDA for more clarity.

PR: https://static1.squarespace.com/static/5966cc2220099e91326caaec/t/69d7dbb80155f46e144ae2e5/1775754168227/4.9.26+press+release+petition_vf.pdf

Petition: https://static1.squarespace.com/static/5966cc2220099e91326caaec/t/69d7e016d5986e16ff09b64c/1775755288463/Letter+Head+Petition+for+rulemaking+to+amend%C2%A021+CFR+%C2%A7+314.126+and+%C2%A0%C2%A7312.47+%281%29.pdf

Reuters 4/1: https://www.reuters.com/sustainability/boards-policy-regulation/rare-disease-advocacy-group-urges-trump-administration-restore-fda-clarity-2026-04-01/

Pink Sheet: https://insights.citeline.com/pink-sheet/pathways-and-standards/review-pathways/could-structured-not-ad-hoc-us-fda-flexibility-increase-rare-disease-development-certainty-BYXJENIJLFEINOSO72RS53ZJHE/

Show your support here: https://www.regulations.gov/document/FDA-2026-P-3666-0001

Paragraph 1 – Share information about you and SYNGAP1.

Paragraph 2 – Seizures are hard to count while X, Y and Z are major burdens but FDA wants nice countable seizures, this makes it hard to develop drugs.

Paragraph 3 – How could “clinically meaningful” endpoints potentially help your community and drug developers? How could a study design other than a ‘randomized clinical trial’ help? How could FDA consulting with disease-specific experts help?

Closing – Finish your letter with anything along these lines: We support the framework for all rare set diseases in Haystack’s petition. We don’t believe FDA has to lower the evidentiary bar to approve treatments for our diseases. Randomization isn’t always possible. New scientific methods should be considered. Endpoints specific to our disease should be considered. We urge FDA to open a rulemaking so we can have a legally binding regulation.

Board changes, thank you to everyone. https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-patientadvocacy-activity-7450528611339616256-4MJF?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HE

Press Release cureSYNGAP1.org/PR45

US, use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142

Study list!

Citizen Health https://www.citizen.health/ai-advocate/syngap1
Combined Brain (May 1 & 2 in NorCal), https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit?usp=sharing
ProMMiS https://www.linkedin.com/feed/update/urn:li:activity:7450196488300728320
Rare-X, the same week.
DSC and Cook’s are coming soon!
CURE-ID for Drug responses.

CURE-ID is cool. https://cure.ncats.io/home (Webinar coming)

Webinar: Thu May 7, 2026 1:30pm – 3pm (PDT) cureSYNGAP1.org/cureID

6th ANNUAL SPRINT FOR SYNGAP1, EVERYWHERE – 5 days - $207k! Go Tavilla.

17 teams raised $265K last year; this year, we have 20+ teams!

https://curesyngap1.org/calendar/sprint4syngap-2026

Thank your Rifton for the donation of the tricycle.

Email today: https://mailchi.mp/curesyngap1.org/sprint-for-syngap-2026-one-community-one-goal?e=17610baa03

INAUGURAL SF NIGHT OF IMPACT, CA – 38 days

Join us this is our only Gala for 2026!

cureSYNGAP1.org/SF26

5TH SCRAMBLE FOR SYNGAP, SC – 166 days

Classic case of a small event becoming an institution!

cureSYNGAP1.org/Scramble26

PUBMED

Pubmed 2026 is at 26. +9 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

SOCIAL MATTERS

4,891 LinkedIn. https://www.linkedin.com/company/curesyngap1

1.55k YouTube. https://www.youtube.com/@CureSYNGAP1

11.1k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1

$CAMP closed at $4.67 Friday.

https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10

Episode 205 of #Syngap10 #CureSYNGAP1 #Podcast

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Tuesday, April 14, 2026 - Week 16

Census is 1,761

https://curesyngap1.org/blog/syngap1-census-2026-update-54-q1-total-1761

Trip to Texas for UT Arlington and Cook Children's

Systems innovation with Dr. Lal and Dr. Perry
My post: https://www.linkedin.com/posts/graglia_raredisease-activity-7448087944466259970-MADW?utm_source=share
Dr. Lal’s post: https://www.linkedin.com/posts/dennis-lal-71a8988a_epilepsies-neurodevelopmentaldisorders-raredisease-activity-7449111793991577600-sfXZ

ProMMiS patients - 164 unique patients, 96 of whom have had 2 visits & 46 others 3-5 visits

https://curesyngap1.org/resources/studies/syngap1-prommis

Citizen - 289 registered

https://www.citizen.health/ai-advocate/syngap1

Victoria Arteaga representing CURE SYNGAP1 at IBE Global Leaders Meeting

https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-rareepilepsy-dee-activity-7449587651885621248-UD9v

Newsletter 51 www.cureSYNGAP1.org/NL51

SYNGAP1 Snippets

You are in this for life.

Board meetings to approve budgets, fundraising has never been more important.

6th ANNUAL SPRINT FOR SYNGAP1, EVERYWHERE – 12 days - $169k! Go Tavilla.

17 teams raised $265K last year; this year, we have 24 teams who have raised almost $170K so far.

https://curesyngap1.org/calendar/sprint4syngap-2026

INAUGURAL SF NIGHT OF IMPACT, CA – 46 days

Join us this is our only Gala for 2026!

cureSYNGAP1.org/SF26

5TH SCRAMBLE FOR SYNGAP, SC – 174 days

Classic case of a small event becoming an institution!

cureSYNGAP1.org/Scramble26

PUBMED

Pubmed 2026 is at 24. +8 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

SOCIAL MATTERS

4,869 LinkedIn. https://www.linkedin.com/company/curesyngap1

1.55k YouTube. https://www.youtube.com/@CureSYNGAP1

11.1k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1

$CAMP closed at $4.64 yesterday.

https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10

Episode 204 of #Syngap10 #CureSYNGAP1 #Podcast

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Friday, April 3, 2026 - Week 14

Just back from the DSC-III Kickoff Meeting! As announced back in September 2025. Really strong group of clinicians.

https://dsc.rarediseasesnetwork.org/patient-advocacy-groups

More on DSC in #S10e184 https://curesyngap1.org/podcasts/syngap10/dsc-rdcrn-ncats-nih-press-aav-in-cell-srf-at-cb-scramble-for-syngap1-s10e184/

We will have sites at SYNGAP1 established doctors, Dr. Wiltrout at Boston Children's Hospital/Harvard, Dr. Holder at Baylor and our very own ProMMiS Doctors: Knowles at Stanford / Dr. Abbott at Colorado. AND, excitingly, these two new locations:

Rush University Medical Center (Rush) led by Dr. Dr. Liz Berry-Kravis.

University of Alabama at Birmingham led by Dr. Martina Bebin.

Interestingly we are paired with PMS aka SHANK3 so the comparisons will naturally arise. Both post-synaptic, they are a half step ahead of us. (We will catch up!) SHANK3 and SYNGAP1 have lots in commons: PSD, Synaptic Plasticity, mTOR. Differences, we have more epilepsy, they have more Catatonia (see Table 2 in Trelles 2026 https://pubmed.ncbi.nlm.nih.gov/41895438/).

After that I met with Dr. Xin Tang from BCH who is working on some exciting potential therapies and then over to CAMP4, who is moving at light speed.

ILAE Rare Epilepsy Big Data Task Force for 4 years! Makes me think about data…

Where does SYNGAP1 Data Live?

Citizen.Health Retrospective
ProMMiS Clinical
Rare-X PRO
Now the DSC will have both
Combined Brain Registry and EEG Database.
In Argentina SYNGAP1 Registry, potentially expanding to Chile and Colombia.
In the EU there is PATRE part of EURAS.
In the UK, it seems largely via NHS.
In China, I don’t know but this paper shows us someone has 99 people: https://pubmed.ncbi.nlm.nih.gov/41914539/
Where else?

SYNGAP1 is having a moment, we need project manager volunteers.

SPRINT FOR SYNGAP1, EVERYWHERE – 21 days - $132k!

Get on the map!

https://curesyngap1.org/calendar/sprint4syngap-2026

INAUGURAL SF NIGHT OF IMPACT, CA – 55 days

Join us this is our only Gala for 2026!

cureSYNGAP1.org/SF26

5TH SCRAMBLE FOR SYNGAP, SC – 183 days

Classic case of a small event becoming an institution!

cureSYNGAP1.org/Scramble26

PUBMED

Pubmed 2026 is at 22. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

SOCIAL MATTERS

4,822 LinkedIn. https://www.linkedin.com/company/curesyngap1

1.55k YouTube. https://www.youtube.com/@CureSYNGAP1

11.1k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1

$CAMP closed at $4.47 today.

https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10

Episode 203 of #Syngap10 #CureSYNGAP1 #Podcast

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Thursday, March 26, 2026 - Week 13

Thanks for NL50 Ed! cureSYNGAP1.org/NL50, I listened to Episode 1 and, as it turns out, it was March 12, 2021 (five 5️⃣ years ago), and it’s evergreen.

SEVEN THINGS YOU NEED TO DO TO BE READY FOR CLINICAL TRIALS

Stay Connected to CURE SYNGAP1.
1. Fill in the Connect Form https://curesyngap1.org/connect
2. Have an annual call with Lauren
3. Subscribe to the CURE SYNGAP1 Podcast everywhere and to our YouTube
Know your mutation, have your genetic report. Memorize it or get a tattoo.
Sign up for our Natural History Studies.
1. Looking forward: ProMMiS https://curesyngap1.org/prommis/ (Also helps you figure out travel)
2. Looking back: Citizen Health https://www.citizen.health/ai-advocate/syngap1
Participate in Research, get your mutation affirmed and published.
1. Join the CB BioRepository https://combinedbrain.org/roadshow
2. Give samples early and often, like me last week: https://www.linkedin.com/posts/graglia_syngap1-syngap-ciliopathy-activity-7441907768468451328-xhzb
3. Do Surveys
Educate yourself, start with these two blogs.
1. https://curesyngap1.org/blog/emerging-medicines-syngap1-related-disorders-primer-comparison-glossary
2. https://curesyngap1.org/blog/preparing-for-syngap1-clinical-trials-what-families-need-to-know
Extra Credit: Collect your EEGs.
1. Get them from everywhere you have been (check Citizen to be sure)
2. Keep them handy on a google drive… like this: https://drive.google.com/drive/folders/1vUMRMtnvTJJi7WEwcSrDSLArGL3vzFxH?usp=share_link
3. Upload them to the CB EEG Repository. Email Lauren for info
4. S10e123 https://curesyngap1.org/podcasts/syngap10/the-more-we-own-our-eegs-the-sooner-we-get-a-biomarker-simple-and-remember-to-get-dinner-tickets-for-the-conference-s10e123
Super Extra Credit: If you have a missense, intronic or other weird mutation. We should make a cell line which will allow further study. These cost ~$10k each, so we need to do a fundraiser, but we can help.
1. S10e

SPRINT FOR SYNGAP1, EVERYWHERE – 29 days

Get on the map!

https://curesyngap1.org/calendar/sprint4syngap-2026

INAUGURAL SF NIGHT OF IMPACT, CA – 63 days

Join us this is our only Gala for 2026!

cureSYNGAP1.org/SF26

5TH SCRAMBLE FOR SYNGAP, SC – 191 days

Classic case of a small event becoming an institution!

cureSYNGAP1.org/Scramble26

SYNGAP1 Awareness

Must watch this episode of Kelly and Kyle. Careful with those ASMs that challenge bone growth… https://curesyngap1.org/bones

PUBMED

Pubmed 2026 is at 18. Some great papers, but will discuss later. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

SOCIAL MATTERS

4,786 LinkedIn. https://www.linkedin.com/company/curesyngap1

1,540 YouTube. https://www.youtube.com/@CureSYNGAP1

11.1k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1

$CAMP stock is at $4.75 on 25 Mar. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10

Episode 202 of #Syngap10 #CureSYNGAP1 #Podcast

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Friday, March 6, 2026 - Week 10

WHAT DO WE NEED $ FOR?

I talked in Episode 197 #S10e197 about scientific priorities, and in Episode 200 #S10e200 about areas of activity beyond science grants. All of this is what we need to fund.

SPRINT FOR SYNGAP1

Sprint for SYNGAP is coming fast– 49 DAYS. Make a difference. Raise some money.

Get on the map! Text sprint26 to 71777

https://curesyngap1.org/calendar/sprint4syngap-2026/

INAUGURAL SF NIGHT OF IMPACT

Also to raise funds, please join us in SF on May 28th. 83 DAYS. Thanks to the organizational team Justin, Zoe, Ed, Jessica, etc.

cureSYNGAP1.org/SF26

NHS Matter

I talked in episode 198 #S10e198 about the importance of natural history studies. Check out this paper on Zuvenersen from Dravet to understand the long-term impact these studies could have.

https://www.nejm.org/doi/full/10.1056/NEJMoa2506295 Join ProMMiS and Citizen Health.

SHOUTOUTS

Rosie Davilla on Univision

curesyngap1.org/rosie2026 - https://www.univision.com/local/dallas-kuvn/syngap1-el-diagnostico-que-cambio-la-vida-de-rosie-en-texas-video

RareDiseaseDay Talks

Emily Barnes @ Quiver; Paulina and Brian Sheehan @ Third Rock; Mike @ SparkNS; John Hill & Allison CNBC Cures.

Beata’s double header SYNGAP1 Stories. Part 1.

https://curesyngap1.org/podcasts/syngap1-stories/beata-tarasiuk/

DSCIII

In addition to Colorado Children’s & Stanford we are now in a study at Boston Children’s, Rush and U Alabama aka UAB. Attending kick off for this at the end of the month.

DATES TO TRACK

Scramble for Syngap - 5th annual on October 3 in S. Carolina in 211 DAYS cureSYNGAP1.org/Scramble26

Conference in Denver CO! 271 DAYS. Sponsorship options in our #Prospectus for industry are available here https://curesyngap1.org/prospectus
Science Day - cureSYNGAP1.org/SD2025Videos
Family Day - cureSYNGAP1.org/FD2025Videos

See our entire library of webinars & videos on YouTube youtube.com/cureSYNGAP1

BIOSAMPLES & EEGs!

Biorepository needs more samples. Check out the list and map here https://combinedbrain.org/roadshow/ and contribute both blood & EEGs. The data and research we do with these samples is invaluable. Let us know if you are going, email our CSO@curesyngap1.org

PUBMED

Pubmed 2026 is at 12, just like last week but am I seeing some amazing manuscripts! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

Two particularly cool papers:

HDAC Inhibitors https://pubmed.ncbi.nlm.nih.gov/41777621/

A positive missense causing cognitive resiliencehttps://pubmed.ncbi.nlm.nih.gov/41777621/

SOCIAL MATTERS

4,732 LinkedIn. https://www.linkedin.com/company/curesyngap1

1,535 YouTube. https://www.youtube.com/@CureSYNGAP1

11.2k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1

$CAMP stock is at $4.59 on 5 Mar. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/

Episode 201 of #Syngap10 #CureSYNGAP1 #Podcast

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Wednesday, February 25, 2026 - Week 9

Thank you Virginie, Eric & Paulina for being in Cold DC right now with the Everylife Foundation! https://www.linkedin.com/posts/curesyngap1_raredc2026-syngap1-curesyngap1-activity-7432425642295586816-IVDQ

NATURAL HISTORY STUDY

And now the Citizen Health App on iOS https://www.linkedin.com/posts/graglia_your-advocate-is-now-with-you-in-every-moment-activity-7432260543748579328--dva

Board meeting… key message, we are much more than fundraising, grants and patient support. Here is our list of non-grant projects.

Fundraising
Regulatory - Industry
Regulatory - FDA
Clinical Trial Readiness
Standard of Care
Patient Engagement
Health Economics https://www.linkedin.com/posts/graglia_the-economic-impact-of-caregiving-for-individuals-activity-7431827551574011904-HvA4
Global Coordination
Next steps with NALL
Patient Support
Next steps with Nortriptyline

BIOSAMPLES & EEGs!

FUNDRAISING - SPRINT4SYNGAP

Sprint is April 25 - our calendar page - cureSYNGAP1.org/Sprint - has all the information in the following links:

Also, May 28, San Francisco, CA: cureSYNGAP1.org/SF26

Scramble for Syngap - 5th annual on October 3 in S. Carolina cureSYNGAP1.org/Scramble26

PUBMED

Pubmed 2026 is at 9, just like last week but am I seeing some amazing manuscripts! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date (Remember we had 18 in all of ‘18)

SOCIAL MATTERS

4,700 LinkedIn. https://www.linkedin.com/company/curesyngap1

1,530 YouTube. https://www.youtube.com/@CureSYNGAP1

11.2k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1

$CAMP stock is at $4.70 on 24 Feb. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/

Episode 200 of #Syngap10 #CureSYNGAP1 #Podcast

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Tuesday, February 17, 2026 - Week 8

We are flat out, thank you to the team who work full-time on SYNGAP1: VM KAH LP PP & KF.

CLINICAL TRIAL DESIGN

We are Angelman-like. (Rett also) https://aesnet.org/abstractslisting/differentiating-key-symptoms-of-angelman-syndrome-as-and-syngap1-via-caregiver-reported-and-us-claims-data-to-understand-differences-between-how-providers-and-caregivers-view-impacts-on-patient-care

Dravet or Angelman? Phase 1/2 is when we try it all. EEGs and NHS help with this effort.

BIOSAMPLES & EEGs!

(Stay tuned for another exciting device study…)

NATURAL HISTORY STUDY

NHS Survey in English: https://curesyngap1.org/SurveyProMMiS & Spanish: https://curesyngap1.org/encuestaProMMiS

Latest Pod on NHS: https://youtu.be/7W38uWKBIAw?si=lCrffwMXidmYWz7t

FUNDRAISING - SPRINT4SYNGAP

Sprint is April 25 - our calendar page - cureSYNGAP1.org/Sprint - has all the information in the following links:
set up your team - cureSYNGAP1.org/Sprint26
resource guide for your event - cureSYNGAP1.org/S4SGuide
webinar #99 to help get you started - cureSYNGAP1.org/S4S25

Also, May 28, San Francisco, CA: cureSYNGAP1.org/SF26

Scramble for Syngap - 5th annual on October 3 in S. Carolina cureSYNGAP1.org/Scramble26

PUBMED

Pubmed 2026 is at 9! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date (Remember we had 18 in all of ‘18)

Cool connection to #PraderWilli Syndrome. https://www.linkedin.com/posts/graglia_syngap1-praderwilli-autism-share-7429579885985296385-zuIH

ETC

More warriors cureSYNGAP1.org/Warrior
Dr. Donlin-Asp Press Release cureSYNGAP1.org/PR42 see talk here https://www.youtube.com/watch?v=lR8qcZK-9ro
Bravo Sara Driscol and GeneDx https://www.linkedin.com/posts/genedx_beyondawareforrare-ugcPost-7427763511235248129-QPPL?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HE

SOCIAL MATTERS

4,686 LinkedIn. https://www.linkedin.com/company/curesyngap1

1,520 YouTube. https://www.youtube.com/@CureSYNGAP1

11.2k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1

$CAMP stock is at $3.85 on 17 Feb. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/

Episode 199 of #Syngap10 #CureSYNGAP1 #Podcast

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Thursday, February 5, 2026 - Week 6

Happy #RareDisease & #BlackHistory Month!

NaturalHistory means how this disease progresses. Reminder: We have only been at this for 17 years, first patients were identified via Hamdan, 2009. https://pubmed.ncbi.nlm.nih.gov/19196676/

Retrospective Digital NHS: cureSYNGAP1.org/Citizen (Growing list of tools available to families, for free)

Prospective Multi-disciplinary Multi-site NHS: ProMMiS cureSYNGAP1.org/ProMMiS

Reminder, only possible by CS1 support for non-CHOP sites and travel plus huge gift to Penn. https://www.chop.edu/news/25-million-gift-penn-medicine-and-children-s-hospital-philadelphia-establishes-center-epilepsy

Potential for being a control arm in the future.

Protocol: https://www.linkedin.com/posts/curesyngap1_syngap1-stxbp1-dee-activity-7425223573134327808-SVEQ & early data: https://pubmed.ncbi.nlm.nih.gov/40119723/

Join the ~160 families who have enjoyed excellent clinical care and contributed tot he future of SYNGAP1. Today, a 4 month old is going!

CHOP: 119 new, V2- 67, V3- 32, V4- 10, V5- 4

CHCO: 37 new, V2- 7

Stanford: 8 new, V2- 2

Total: 164 (double counting one family who goes to multiple sites)

Survey

English: https://curesyngap1.org/SurveyProMMiS Spanish: https://curesyngap1.org/encuestaProMMiS

94 Responses to survey, so far:

Why not? Did not receive an invitation, Too far to travel, Too expensive

Barriers: Logistics, Cost, Time off, Behaviors, Insurance

ETC.

Pubmed 2026 is at 6! But will soon be 7 with the McKee paper!

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

Biorepository needs more samples. Check out the list and map here https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit?usp=sharing and contribute blood. The data and research we do with these samples is invaluable.

May 28, San Francisco, CA: cureSYNGAP1.org/SF26

SOCIAL MATTERS

4,668 LinkedIn. https://www.linkedin.com/company/curesyngap1/

1,520 YouTube. https://www.youtube.com/@CureSYNGAP1

11.2k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1/

$CAMP stock is at $3.59 on 5 Feb. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/

Episode 198 of #Syngap10 #CureSYNGAP1 #Podcast

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All US Families, please take the time to fill out the ProMMiS Survey. It takes 5 minutes. It's super important. Even if you haven't been there, we need your feedback.

English: https://curesyngap1.org/SurveyProMMiS

Spanish: https://curesyngap1.org/encuestaProMMiS

Our funding priorities for 2026 are Genetics, Behaviors & Isoforms. https://www.linkedin.com/posts/graglia_syngap1-curesyngap1-grants-activity-7421952845693788160-EHeK

Pubmed 2026 is at 6!

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

Coolest paper on Pubmed… GC rich areas were missed, so not only do we need to push for testing, but also REtesting.

https://pubmed.ncbi.nlm.nih.gov/41577710/

Bravo to CURE SYNGAP1 Poland (please send me a shirt) & thank you to CAMP4

Event: https://www.linkedin.com/posts/curesyngap1_it-was-a-day-to-remembera-perfect-combination-activity-7422379922578587648-wNBP

Don’t move to or from US/EU/LatAm etc. This question keeps coming. Please stay where you are and advocate like crazy. Set up CURE SYNGAP1 [Your location]

Annual update to Champions of Hope! https://curesyngap1.org/champions-of-hope/

May 28, San Francisco, CA: cureSYNGAP1.org/SF26

SOCIAL MATTERS

4,661 LinkedIn. https://www.linkedin.com/company/curesyngap1/

1,520 YouTube. https://www.youtube.com/@CureSYNGAP1

11.2k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1/

$CAMP stock is at $3.83 on 27 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/

Episode 197 of #Syngap10 #CureSYNGAP1 #Podcast

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Friday, January 16, 2026 - Week 3

Stoke Phase 3 Rapid Recruitment - A timeline that is ours to beat!
https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-updates-timelines-completion

If Marcin can make it from Poland, you can make it from where you are!
cureSYNGAP1.org/Marcin

CAMP4 Website is great and features Dani Williams!
https://www.camp4tx.com/

Newsletter is out!
https://cureSYNGAP1.org/NL49

Sara Driscoll Genetic Testing Story - Share it or copy it!
https://cureSYNGAP1.org/GenTest

Pubmed 2026 is at 3!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

SOCIAL MATTERS
4,604 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,510 YouTube. https://www.youtube.com/@CureSYNGAP1
11.2k Twitter https://twitter.com/cureSYNGAP1
45k Insta https://www.instagram.com/curesyngap1/

$CAMP stock is at $5.78 on 15 Jan. ‘26
https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen.
https://curesyngap1.org/podcasts/syngap10/

Episode 196 of #Syngap10 #CureSYNGAP1 #Podcast

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Saturday, January 10, 2026 - Week 2

Here are key talking points to reference when talking about SRD. Please let us know your thoughts about how these could be better. https://docs.google.com/document/d/1lXaDQEVwF1K_yAU-RicaJibxb8xoJtldSvnVgopwu00/edit?usp=sharing

SOCIAL MATTERS

4,546 LinkedIn. https://www.linkedin.com/company/curesyngap1/

1,500 YouTube. https://www.youtube.com/@CureSYNGAP1

11.2k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1/

$CAMP stock is at $6.20 on 8 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/

Episode 195 of #Syngap10 #CureSYNGAP1 #Podcast

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Friday, January 9, 2026 - Week 2

Big news in SYNGAP-land, Becky Quick and Matt Quayle have a beautiful SynGAPian named Kaylie & they are launching CNBC Cures!

Wonderful to have more awareness of SYNGAP1, I hope it leads to more diagnoses.
My two favorite quotes from the episode and podcast: “There is no Mission without Money”-BQ & “She has reset our whole life plan…one day I’m going to be gone and is Kaylie going to be ok?”-MQ
Here is our page with all the links! https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-cnbccures-activity-7415094066675216387-32wF
curesyngap1.org/kaylie

It's important for us all to remember that it can take time to find our voice. And then use it.

Speaking of using our voice, what can you say? We worked yesterday on Key Talking points which will live here and I will talk about them in the next episode. https://docs.google.com/document/d/1lXaDQEVwF1K_yAU-RicaJibxb8xoJtldSvnVgopwu00/edit?usp=sharing

First paper of 2026, Challenges of Caregiving in SYNGAP1, STXBP1, and TSC.

https://pubmed.ncbi.nlm.nih.gov/41405416/

PUBMED is at 1 for the year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2026&timeline=expanded&sort=date

SOCIAL MATTERS

4,546 LinkedIn. https://www.linkedin.com/company/curesyngap1/

1,500 YouTube. https://www.youtube.com/@CureSYNGAP1

11.2k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1/

$CAMP stock is at $6.20 on 8 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/

Episode 194 of #Syngap10 #CureSYNGAP1 #Podcast

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Friday, January 2, 2026 - Week 1

SynGAPCensus = 1,707 https://curesyngap1.org/blog/syngap1-census-2025-update-32-q4-2025-1707/

From the Cantor Report on CAMP4

The Stockdale Paradox. The best way to succinctly describe CAMP4 and the parties driving progress in this field (Cure SYNGAP1, families, researchers) is, for anyone familiar with Jim Collins' book "Good to Great," they have fully embraced the "Stockdale Paradox": To succeed in difficult circumstances you must 1) confront the brutal facts (severity of the disorder, devastating

impact on patients and families, lack of treatment) while 2) maintaining unwavering faith that you can and will prevail in the end. It gives us conviction that there WILL be a therapy approved for SYNGAP sooner than later and CAMP is most likely to deliver it.

20Posters Speaking of publications, I talked about 16 posters at AES this year and shared on LI, but I was wrong in the responses I realized we are up to 20! https://www.linkedin.com/posts/graglia_syngap1-curesyngap1-activity-7408291479187755008-rMru

Mutation Tattoo Story

https://www.linkedin.com/posts/shriya-bhat-0b845b203_at-a-patient-advocacy-meeting-in-nashville-activity-7409304451821277184-TO0t

SOCIAL MATTERS

4,529 LinkedIn. https://www.linkedin.com/company/curesyngap1/

1,500 YouTube. https://www.youtube.com/@CureSYNGAP1

11.2k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1/

$CAMP stock is at $6.00 on 2 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/

Episode 193 of #Syngap10 #CureSYNGAP1 #Podcast

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Saturday, December 20, 2025 - Five days till Christmas, 11 days left to raise funds to CURE SYNGAP1

AES was exceptional in many ways, here are a few:

Rare & SYNGAP1 were both very visible, posters with our Logo and names of staff were seen! Posters: https://www.linkedin.com/posts/graglia_syngap1-curesyngap1-activity-7408291479187755008-rMru
Our conference was standing room only and had investors! Even got a mention in their research report! https://www.investing.com/news/analyst-ratings/cantor-fitzgerald-reiterates-overweight-rating-on-camp4-therapeutics-stock-93CH-4403281
ProMMiS Launch was a massive win for patients. Collaboration.
Praxis and Lundbeck recruited for exciting drugs and CAMP4 talked about their ASO and recruiting next year.
Our community's presence was felt well into AES.

Aaron's post on growth! https://www.facebook.com/aaron.j.harding.5/posts/pfbid0231DtMVUtkZa4eXLv8C8qbf4xEN95aRP1xJ8sGNNvun7aDuUyZVatMWUjjigdXfg1l

Pre-register now for Denver: cureSYNGAP1.org/Pre26

Fundraising. We are YTD $1.68M which is below $1.86M in ’23 and $1.97M in ’24. We need to really double down on fundraising for the next two weeks and into next year. Support our campaign at curesyngap1.org/unlock

ACTION ALERT 🚨Call Bernie and urge him to help children at NO COST to the USG by supporting the PRV. (202) 224-5141

https://www.linkedin.com/posts/christine-waggoner-71b1555_mibagents-makeitbetter-osteosarcoma-activity-7408186315592085504-A6AY

PUBMED is at 58 for the year, that is +4 over our best year, last year. 187 since 2022, more than half of our SYNGAP1 Knowledge (365) has been created in the past 4 years!

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2026&timeline=expanded&sort=date

SOCIAL MATTERS

4,519 LinkedIn. https://www.linkedin.com/company/curesyngap1/

1,490 YouTube. https://www.youtube.com/@CureSYNGAP1

11.2k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1/

$CAMP stock is at $6.38 on 19 Dec. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/

Episode 192 of #Syngap10 #CureSYNGAP1 #Podcast

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CyberMonday, December 1, 2025. Week 49.

Go buy The Monster Inside My Brother by Nicole Ciccone illustrated by Lena Bardy.

Bookshop: https://bookshop.org/p/books/the-monster-inside-my-brother-nicole-ciccone/8986b9c64d1ebe5d?ean=9798999980700&next=t&

Barnes and Noble: https://www.barnesandnoble.com/w/the-monster-inside-my-brother-nicole-m-ciccone/1148368158

Amazon: https://a.co/d/imfxmwG

See you Thursday at the CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

SOCIAL MATTERS

4,474 LinkedIn. https://www.linkedin.com/company/curesyngap1/

1,480 YouTube. https://www.youtube.com/@CureSYNGAP1

11.2k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1/

$CAMP stock is at $3.80 on 26 Nov. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Episode 191 of #Syngap10 #CureSYNGAP1

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Happy Thanksgiving… Thursday, November 27, 2025. Week 48.

Continued from #S10e189…

And the AAV Paper (https://pubmed.ncbi.nlm.nih.gov/40988338/) from #S10e187… https://curesyngap1.org/podcasts/syngap10/clinical-research-ai-dx-nl47-survey-autism-press-6-days-to-register-for-syngap1conf-s10e187/

https://curesyngap1.org/blog/

Issac’s story, Transmitter reprint, Scramble 4 write up and JK on #Autism, #MustRead

https://curesyngap1.org/resources/webinars/ 119 - 112

Register for livestream of the conference, AAV from Allen Inst., dos en espanol, Missense, Unlock and Rare-X for ProMMiS.

https://curesyngap1.org/podcasts/syngap1-stories/

A gold mine have you listened to #38, the Virginie Pod, really must listen, she is our leader. https://www.linkedin.com/posts/graglia_syngap1stories-syngap1-syngap1storiesty-activity-7387203351907708928-liNL

CLINICAL TRIAL & GENETIC MEDICINE CORNER

Example of Ultragenyx FAST Angelman follow on trial to look at other ages and genotypes, key message, never give up. https://www.linkedin.com/posts/cureangelman_the-global-aurora-study-will-enroll-approximately-activity-7389647402690957312-Bihi

Congrats to Novartis on approval of the first Gene Therapy to Cure SMA!

https://www.linkedin.com/posts/graglia_sma-fdaapproval-rarediseaseinnovation-activity-7398939783005347840-Ocd_ Remember Spinraza was approved in December 2019.

TODOS

Sign up for Citizen Health: https://www.citizen.health/partners/srf
USE YOUR ICD-10 F78.A1 #S10e185 https://www.youtube.com/watch?v=dale0NbxDpU
Go to CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

SOCIAL MATTERS

4,468 LinkedIn. https://www.linkedin.com/company/curesyngap1/

1,480 YouTube. https://www.youtube.com/@CureSYNGAP1

11.2k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1/

$CAMP stock is at $3.62 on 26 Nov. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Episode 190 of #Syngap10 #CureSYNGAP1

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Happy Thanksgiving… Thursday, November 27, 2025. Week 48.

https://curesyngap1.org/clinical-trials/ Emerald from Praxis for Relutrigine and DeeP Ocean from Longboard for Bexicaserin. Check them out, screen for both. See what you can do!

Hectic with #MIHealthSummit, Tony at home, an NHS visit, Ultrabootcamp, not to mention prepping for the most elaborate conference yet!

MI https://www.linkedin.com/posts/raymond-puerini_medtech-patientengagement-mihealthsummit-activity-7392679496266436608-7kWo

Bootcamp https://www.linkedin.com/posts/graglia_rarebootcamp-syngap1-precisionmedicines-activity-7396249525214031872-RvsX

ProMMiS - Meet committed clinicians, get great care and build the future of SYNGAP1 clinical medicine.

Upcoming Stanford enrollment dates: December 10–11, 2025: 2 slots, February 25–26, 2026: 2 slots, May 27–28, 2026: 2 slots to enroll email prommis@curesyngap1.org

GIVING TUESDAY

1 week to go. Set up an Unlock fundraising page now and send it out BEFORE Tuesday December 2nd! cureSyngap1.org/unlock or for more info: https://curesyngap1.org/podcasts/syngap10/time-to-unlock-their-tomorrow-raise-funds-camp4-our-name-s10e188/

Video: https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-activity-7399492685474009088-DXWI

CONFERENCE

Record Headcount over 20% increase: Scientific: 237 & Caregiver Connect: 180 (of which 26 patients)
Agendas are up: https://curesyngap1.org/calendar/cure-syngap1-conference-2025-hosted-by-srf/
Volunteer with us: stacey@cureSYNGAP1.org

PAPERS

PUBMED at 52, and low. Clinical research! 181 / 359 = more than half of the knowledge on S1 in the past 4 year!

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&sort=date

Movement disorder comparison: https://www.medrxiv.org/content/10.1101/2025.11.04.25339413v1.full.pdf

SLEEP - SRD Patients are the worst https://pubmed.ncbi.nlm.nih.gov/41138043/ aligned with CSH paper https://pmc.ncbi.nlm.nih.gov/articles/PMC8472329/

TODOS

Sign up for Citizen Health: https://www.citizen.health/partners/srf
USE YOUR ICD-10 F78.A1 #S10e185 https://www.youtube.com/watch?v=dale0NbxDpU
Go to CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

SOCIAL MATTERS

4,468 LinkedIn. https://www.linkedin.com/company/curesyngap1/

1,480 YouTube. https://www.youtube.com/@CureSYNGAP1

11.2k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1/

$CAMP stock is at $3.62 on 26 Nov. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Episode 189 of #Syngap10 #CureSYNGAP1

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Sunday, November 9, 2025. Week 46.

End of year campaign: UNLOCK THEIR TOMORROW, curesyngap1.org/unlock

Why now? UNLOCK It’s giving season. Count our blessings and share what we have. CS1 has moved mountains this year: Staff, ProMMiS, etc. But we are just starting…

Every single family should give and should solicit their friends. Yes, it’s a tough time. Yes, people have other causes. No (most of) your friends don’t have a SynGAPian.

Miss 100% of the shots you don’t take. And remember, donors learn about what they give to, so even small donations cause huge changes in awareness.

Go to our Champions page: https://curesyngap1.org/champions-of-hope/
Tony, Myla, Hattie, Jansen, Kai, Sophia, Kaylie, Gracie are at $50k+. Eight families. It’s only five at $100k+. I think we can do better. I also think we should have more participation at every level, we can’t lean on a handful of families to carry this organization.

These families get something key: CURE SYNGAP1 is in it for the long run, unlike EVERYONE ELSE you are supporting. Great that you are doing schools, horses, girl scouts, etc, but the only people asking you for money right now that are going to be fighting for your kid in 5, 10, or 50 years, is CURE SYNGAP1. The only group who won’t kick your family/loved one out of our community when your SynGAPian bites one of our staff or elopes from a meeting across streets. Also us. The people who understand SYNGAP1 the best. Right here.

Technicals, we could not make this easier!

Take 5 minutes to build your own fundraiser or simply email friends/family/co-workers/church associates/other kids’ sports team parents/etc. It’s uncomfortable but essential.

It’s so darn easy to give -

💻 ONLINE @ CURESYNGAP1.ORG/UNLOCK Use Credit Card, PayPal, Venmo, Google & Apple

📱 PHONE - Text UNLOCK to 71777, then follow the instructions.

📬 MAIL A CHECK CURE SYNGAP1, PO Box 515734 Los Angeles, CA 90051-5150

Two more questions:

?1: Aren’t we done now with CAMP4? No. Three reasons: Clock, Count, unknowns.

Clinical research. Behavioral interventions. Optimal medications. Missense research. Patient discovery. Drug repurposing. Family support. Global coordination.

?2: Our name is a demand: CURE SYNGAP1, and we are not there yet. SRF suggested that funding science was enough, boy were we wrong.

We need patients to be Support. Educate. Activate. Coordinate. I discussed the many ways a PAG matters in #S10e181. (I missed data & should have clinical separate, will redo.) https://curesyngap1.org/podcasts/syngap10/patient-advocacy-groups-matter-party-friday-syngap1conf-soon-elopement-s10e181/

Every single family needs to help us raise funds. Every single one.

SOCIALS

4,426 LinkedIn. https://www.linkedin.com/company/curesyngap1/

1,480 YouTube. https://www.youtube.com/@CureSYNGAP1

11k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1/

$CAMP stock is at $4.25 on 7 Nov. ‘‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Episode 188 of #Syngap10 #CureSYNGAP1

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Saturday, October 25, 2025. Week 43.

Time to advocate, ELF on the Hill, support available, apply now: https://www.linkedin.com/posts/everylifeorg_were-excited-to-join-everyone-on-capitol-activity-7384625926333943808-mO1U/

PUBMED at 47, and low. Clinical research!

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&sort=date

CHOP EEG ProMMiS https://www.neurology.org/doi/10.1212/WNL.0000000000214148?url_ver=Z39.88-2003𝔯_id=ori:rid:crossref.org𝔯_dat=cr_pub%20%200pubmed
COMMUNICATION #ORCA https://acamh.onlinelibrary.wiley.com/doi/full/10.1111/jcpp.70063

Doing surveys gets us into papers like ORCA, helps us raise awareness of SRD. This one on AI is really interesting: https://redcap.tch.harvard.edu/redcap_edc/surveys/?s=YFHYH7T7LTPAL44X

Newsletter #47

https://mailchi.mp/curesyngap1.org/unlock-their-tomorrow-issue47

IPM on SRD AAV https://www.insideprecisionmedicine.com/topics/precision-medicine/gene-therapy-reverses-syngap1-brain-disorder-symptoms-in-mice/

NYT Take on #Autism is very good, thank you Azeen Ghorayshi

Split the Autism Spectrum: https://www.nytimes.com/2025/10/01/health/autism-spectrum-neurodiversity-kennedy.html?unlocked_article_code=1.q08.NXEA.fg5ulHeTHUeJ∣=url-share quotes Jackie K, explores argument for Profound & Severe Autism as a category.

Our own Jackie Kancir has a great substack, listen to it in her voice here: https://jkancir.substack.com/p/autism-is-not-my-daughter-nor-her

Tylenol: https://www.nytimes.com/video/science/100000010414944/trump-pushes-unproven-link-between-tylenol-and-autism.html

https://www.citizen.health/partners/srf

CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

USE YOUR ICD-10 F78.A1 #S10e185 https://www.youtube.com/watch?v=dale0NbxDpU

SOCIALS

4,417 LinkedIn. https://www.linkedin.com/company/curesyngap1/

1,470 YouTube. https://www.youtube.com/@CureSYNGAP1

11k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1/

Episode 187 of #Syngap10 #CureSYNGAP1

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Friday, October 3, 2025. Week 40.

SyngapCenus 1,675 https://curesyngap1.org/blog/syngap1-census-2025-update-39-q3-2025-total-1675/

Rachel J. made an educator handout https://curesyngap1.org/blog/supporting-students-with-syngap1-related-disorders/

https://www.citizen.health/partners/srf

CC/VNS Research w/ Citizen https://www.linkedin.com/posts/citizen-health-inc_syngap1-dee-raredisease-activity-7378823288950575105-YjP3

Rhymes with recent publication from Dr. Perry on Dravet

https://www.tandfonline.com/doi/full/10.1080/14737175.2025.2562118

Citizen AI Advocate avail. for SYNGAP1 families https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-raredisease-activity-7378443770201047040-ORGj

$CAMP starts GLP Tox https://www.linkedin.com/posts/camp4-therapeutics_syngap1-activity-7379142427149881344-cBFE

CF initiates coverage at Overweight https://www.investing.com/news/analyst-ratings/cantor-fitzgerald-initiates-camp4-therapeutics-stock-with-overweight-rating-93CH-4268395

$CAMP $2.98 at close on 10/2 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

CIRM funds SYNGAP DISC0-17998 grant proposal from Iris Medicine team, in collaboration with Dr. Gene Yeo’s team (UCSD) https://www.cirm.ca.gov/about-cirm/newsroom/press-releases/cirm-approves-73-million-in-awards-for-discovery-research/

Scramble in SC on October 4th https://www.linkedin.com/posts/julie-miles-4294322ba_scramble-for-syngap-activity-7370558331611971585-iw0A

CURE SYNGAP1 Conference 2025 Atlanta https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

USE YOUR ICD-10 F78.A1

e185 https://www.youtube.com/watch?v=dale0NbxDpU

SOCIALS

4,381 LinkedIn. https://www.linkedin.com/company/curesyngap1/

1,450 YouTube. https://www.youtube.com/@CureSYNGAP1

11k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1/

Episode 186 of #Syngap10 #CureSYNGAP1

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Wednesday, October 1st, 2025. Week 40.

SYNGAP1 Related Disorders secured an ICD-10 code exactly four years ago today, through the advocacy of SRF and the hard work of volunteers like Hans Schlecht. Our code is F78.A1

Blog: https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/

Check out #S10e8 to learn more: https://www.youtube.com/watch?v=tZ5s5rQawXg

Read the case study: https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13

Hear from other leaders: https://effieparks.com/podcast/episode-224-the-complicated-world-of-icd10-codes-with-ceo-and-co-founder-of-slc6a1-connect-amber-freed

Why does it matter and where are we now? It helps us find patients and it helps doctors and companies find YOU. We aren’t where we should be.

Dr. Lal’s sobering post: https://www.linkedin.com/posts/dennis-lal-71a8988a_raredisease-epilepsy-precisionmedicine-activity-7373307411383857152-dQS0

Preprint: https://www.medrxiv.org/content/10.1101/2025.09.12.25335652v1.full.pdf

TABLE 1. List of monogenic epilepsies with a syndrome-specific ICD-10 code, associated

genes, and code implementation dates.

Syndrome ICD-10 Code Gene Effective Date21

Rett syndrome F84.2 MECP2 10/01/2015

Glucose transporter protein type 1 deficiency syndrome (GLUT1-DS) E74.810 SLC2A1 10/01/2020

Cyclin-dependent kinase-like 5 deficiency disorder (CDD) G40.42 CDKL5 10/01/2020

Dravet syndrome G40.83 SCN1A 10/01/2020

SYNGAP1-related intellectual disability (SYNGAP1-ID) SYNGAP1 F78.A1 10/01/2021
MED13L syndrome Q87.85 MED13L 10/01/2023

Phelan-McDermid syndrome Q93.52 SHANK3 10/01/2023

SLC13A5 citrate transporter disorder E74.820 SLC13A5 10/01/2024

KCNQ2-related epilepsy G40.84 KCNQ2 10/01/2024

Kleefstra syndrome Q87.86 EHMT1 10/01/2024

5 Conclusion

Syndrome-specific ICD-10 codes for monogenic epilepsies are markedly underutilized, even for patients with confirmed molecular diagnoses and established clinical syndromes. In our cohort, fewer than two-thirds of eligible patients were ever documented with their syndrome-specific ICD-10 code, and when used, these codes were applied inconsistently across encounters, specialties, and time. Such gaps hinder the reliable identification of patients for precision therapies, clinical trials, and research studies, limiting the intended value of these codes. Although uptake of syndrome-specific ICD-10 codes showed gradual improvement over time, additional efforts, including automated and patient-driven coding support and integration of structured genetic data, are needed to ensure accurate and consistent use. Broader, multi-institutional studies will be essential to validate these findings and to guide strategies that maximize the clinical and research utility of syndrome-specific ICD codes as precision medicine advances.

Who else got them? New DEE Codes effective 10/1/2025! https://www.cdc.gov/nchs/icd/icd-10-cm/files.html

FOXG1 Q04.8 https://www.foxg1research.org/news/foxg1-syndrome-icd-10-code

Kabuki Q87.0

USP7 Q87.87 https://www.linkedin.com/posts/foundation-for-usp7-related-diseases_were-proud-to-share-an-important-milestone-activity-7375555189539348480-77n3

CTNNB1 Q87.88 https://www.linkedin.com/posts/ctnnb1_ctnnb1-connectandcure-ctnnb1syndrome-activity-7376633308836683777-fRYC

SCN2A QA0.0101 https://www.scn2a.org/from-advocacy-to-action-scn2a-now-has-its-own-icd-10-code/

CACNA1A QA0.0102 https://www.linkedin.com/posts/cacna1a-foundation_huge-milestone-for-our-cacna1a-community-activity-7358883822282653696-xWr5

SLC6A1 QA0.0131 https://www.linkedin.com/posts/slc6a1connect_raredisease-icd10-genetics-activity-7374801222056411136-wmAZ

STXBP1 QA0.0141 https://www.stxbp1disorders.org/news/stxbp1-has-an-icd-10-code

DLG4 QA0.0149

Usher H35.5

CombinedBRAIN Rent a Neuro: https://combinedbrain.org/rent-a-neuroscientist/

CB Slide on ICD-10: https://docs.google.com/presentation/d/1wys1RLbJWBtK9eh7xSd_Lm-xwqbeZMSnM7xcCQznE8M/edit?usp=sharing

Everylife Roadmap: https://everylifefoundation.org/icd-code-roadmap/

REN ICD-10 page: https://www.rareepilepsynetwork.org/about-icd-codes

EVENTS!

Scramble this weekend in Greer, SC! https://donate.curesyngap1.org/event/scramble-for-syngap-2025/e667451

Conference on Dec 4 & 5 in Atlanta, don’t miss. https://donate.curesyngap1.org/event/cure-syngap1-conference-2025-hosted-by-srf/e661355

CURE SYNGAP1 CONNECT

https://curesyngap1.org/curesyngap1connect/

SOCIAL MATTERS

4,376 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,450 YouTube. https://www.youtube.com/@CureSYNGAP1
11,285 Twitter https://twitter.com/cureSYNGAP1
46k Insta https://www.instagram.com/curesyngap1/

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 185 of #Syngap10 #CureSynGAP1

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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Friday, September 26, 2025. Week 39.

In this episode of Syngap10, we continue the conversation from Episode 183, sharing the latest milestones and moments with our SYNGAP1 community.

DSC has announced!

DSC (part of RDCRN, part of NCATS, part of NIH) also announced and continues to raise profile of SYNGAP1 Related Disorders (SRD)

Key post https://www.linkedin.com/posts/curesyngap1_86-million-nih-grant-renews-support-for-activity-7373870761230589952-aV1M

RDCRN List with #DSC https://ncats.nih.gov/research/research-activities/rdcrn/consortia

In addition to that, the DSC was formally announced, and will result in five years of SYNGAP1 securing a spot on the map. This was because of an SRF grant years ago! Grant https://curesyngap1.org/blog/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-childrens-hospital/

Pubmed is at 44! (+2 v ‘23, -10 v ‘24, 2nd place) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc

Cell Paper on AAV in Mice: https://www.linkedin.com/posts/boaz-levi-07387741_aav-delivery-of-full-length-syngap1-rescues-activity-7376306391537532928-iT9u

Last week was a CB Conf in Nashville, attended by KAH and VA, thank you to both. KAH in Staff yesterday, the hardest thing is not seeing Joey. ☹️ Thanks to MS for going too.

MS https://www.linkedin.com/posts/melissasmith1_raredisease-patientadvocacy-syngap1-activity-7374408667091333120-Udp0/

KAH https://www.linkedin.com/posts/kathryn-syngap-research-fund_the-combinedbrain-conference-in-nashville-activity-7374639535021928448-gWB4

Two big upcoming events:

Scramble in SC on October 4th https://www.linkedin.com/posts/julie-miles-4294322ba_scramble-for-syngap-activity-7370558331611971585-iw0A

CURE SYNGAP1 Conference 2025 in Atlanta https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

SOCIAL MATTERS

4,371 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,440 YouTube. https://www.youtube.com/@CureSYNGAP1
11,292 Twitter https://twitter.com/cureSYNGAP1
45k Insta https://www.instagram.com/curesyngap1/

COMPANIES WITH NAMED ASSETS FOR SYNGAP1

$CAMP $3.00 at close on 9/23

Episode 184 of #Syngap10 #CureSYNGAP1

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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Friday, September 26, 2025. Week 39.

In #S10e182 I told you about CAMP4, don’t miss that, watch here: https://www.youtube.com/watch?v=PZ0Oj-Zz-B0 Sharing research comments from William Blair & Wedbush

William Blair Initiation of Coverage: “Among several quality investors, the private placement included the Syngap Research Fund, which is active in the Syngap1 patient community and will be an important resource in aiding patient identification and enrollment in the Phase 1/2 trial in our view.”

Wedbush

Ph1/2 Will Likely Begin From Ex-U.S., Aiming for Early Intervention. Citing precedents of other intrathecally delivered antisense oligonucleotide programs for CNS indications, where the FDA oftentimes required sponsors to begin at a dose level well below the efficacious dose, CAMP plans to begin patient dosing outside the U.S. for the potential to go directly to doses that are expected to show efficacy. The selection of patient age range will depend on regulatory discussions, and management highlighted the impact of the disease on neurodevelopment, so early intervention could allow patients to have a better opportunity to achieve as normal as possible development.

CAMP Will Have Access to Natural History Data being Collected by SRF and CHOP. According to management, a natural history study is being conducted by SynGAP Research Fund (SRF), which also participated in the private placement, in collaboration with Children's Hospital of Philadelphia (CHOP), and CAMP will have access to data as well as patients for future clinical study enrollment.

Donate now: https://curesyngap1.org/donate/

Beacon of Hope was a great success, raised over $100k. We need to do this every year. Thanks to Navarros for getting this launched, also to SJ, Emily Barnes, Peter Halliburton, & Kathryn Helde who helped make this event incredible.

Emmy’s video (top of) https://curesyngap1.org/resources/movies/
Blog: https://cureSYNGAP1.org/Beacon25 (will be live Friday night 9/26)

Pairs well with Gala Blog: https://curesyngap1.org/Gala25

Research is non-stop:

CRID, get one. https://curesyngap1.org/blog/every-syngap1-related-disorders-patient-needs-a-crid/
ProMMiS, incredible coordination meeting today. Sign up. https://curesyngap1.org/resources/studies/syngap1-ProMMiS/
Sign up for Citizen Health too! AI Advocate is live for us an awesome. https://www.citizen.health/partners/srf

Episode 183 of #Syngap10 #CureSYNGAP1

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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Wednesday, September 10, 2025. Week 37.

CAMP4 Press Release:

https://www.linkedin.com/posts/caleb-moore-4382704_syngap1-activity-7371545171047628800-zVqR

Let me tell you a story:

EW Story, concern over viability of C4.
Easy to follow financials, Mrkt Cap and Net assets of ~$40M. Net income/EBITDA of -$12.6M in Q2.
Running Phase I / II trials and ramping up for Phase III, not cheap. They need more than they had and capital is hard to get in this market.
But here is the good part, the data is solid, the team is strong, and the SYNGAP1 Ecosystem is excited to have a first mover.
SRF was thrilled to be invited, not just because we believe in C4, but because we wanted to send a meaningful signal to other investors that we are working closely with C4 and are eager to support their success. I believe that our investment, while modest, sent that signal and helped this raise become oversubscribed.
The board worked hard on this one.

Now for hard questions:

Are we conflicted? No. We will transparently share info about all trials for products with good data. ( See #S10e172 for ASGCT Data https://youtu.be/9xO1TcO1Eus )
Will other companies be upset? Unlikely. Stoke and Praxis are the only companies publicly working on SYNGAP1 that are close to this point and they are not worried about financial viability, but if they do want to do a raise for their SYNGAP1 program, they should certainly call us.
What will other companies think? Indeed we are de-risking the disease by showing that our kids are modifiable with ASOs which are the majority of the therapies in scope. This is a huge favor to others looking at this space.
Isn’t this taking a risk with our funds? Depends. But if it is, it’s a risk worth taking. Remember we are the smallest investor, we only committed up to $1M, so other professional biotech investors put in $99M.
What was the process? C4 came to us, we decided it was worth talking to the board who had multiple discussions but we said yes in less than a week and that was last week.

When is the trial? 2H26 Less than a year from now. With this financing, I am sure of it.

As I write this, the $CAMP stock closed up $0.80 or +40%. Which is solid. The market is starting to agree with the wise investors and SRF!

Yes we need a cure.

https://www.linkedin.com/posts/curesyngap1_savekramerdavis-activity-7371607032807763968-PVfG

See you Friday: Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25

SOCIAL MATTERS

4,311 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,430 YouTube. https://www.youtube.com/@CureSYNGAP1
11,286 Twitter https://twitter.com/cureSYNGAP1
46k Insta https://www.instagram.com/curesyngap1/

Episode 182 of #Syngap10 #CureSYNGAP1

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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Sunday, September 7, 2025. Week 37.

Why does CURE SYNGAP1 aka SRF matter? Do PAGS make a difference?

Heck yes.

Empower Families - Support. Educate. Activate. Coordinate.
Use Money Catalytically - Tax advantage. Pool. Manage. Make Catalytic. Focus. Manage.
Partner with Science & Medicine - Push forward. Connect efforts. Focus on Tx. Work in Clinic.
Leverage Ecosystem. Industry. PAGs. Superpags (CB, GG, ELF).
Ensure Continuity. Our kids will outlast us. Our energy wanes. Life happens. Cure SYNGAP1 never stops focusing on the biggest challenge in our lives: SRD.

Because you VOLUNTEER

Join us: https://curesyngap1.org/volunteer-with-srf/

Gala video: Look at those faces.https://www.youtube.com/watch?v=d6dCSBq27Gc

Friday: Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25

Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble

📺 TV Interview! https://www.wspa.com/your-carolina/scramble-for-syngap-2/amp/

Conference is in 88 Days

https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

Need to register for the conference? Do that here: cureSYNGAP1.org/Reg25

Get a Room (Deadline 11/3 – Will sell out)

Need a hotel room? Use our block here: cureSYNGAP1.org/GATech

Get Friday Dinner Tickets we are going to AltaToro https://altatoro.com/ (20 already sold!)

SHARE BLOOD TO THE SRF BIOBANK
🩸https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow

Elopement (See #S10e178 https://www.youtube.com/watch?v=OiRnXxh0wfY)

https://people.com/boy-rescued-from-hersheypark-monorail-is-on-the-autism-spectrum-says-rescuer-11802782
https://www.facebook.com/NationalAutism/posts/pfbid02MqviB8pfYpm8QMw5ASqp9XMQY2MsL7mVcJSfeLmzsHLHBAt9bBDjfuqdg2awXAtsl

3rd Scientific Congress in Spanish Oct 11 virtual 9-1:30 ET, 8-12:30 in Colombia

https://curesyngap1.org/calendar/tercer-congreso-cientifico-syngap1-en-espanol/

SOCIAL MATTERS

4,306 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,430 YouTube. https://www.youtube.com/@CureSYNGAP1
11,286 Twitter https://twitter.com/cureSYNGAP1
46k Insta https://www.instagram.com/curesyngap1/

Join Citizen Health! Last count we were at 275!

https://www.citizen.health/partners/srf

Pubmed is at 42!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc

NEWLY DIAGNOSED?

Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/

Resources

https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 181 of #Syngap10 #CureSYNGAP1

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

View Details

Friday, August 29th, 2025. Week 35.

5th Annual Gala was a great success! cureSYNGAP1.org/Gala5

Sad to miss it? Join us in Boston or South Carolina. Deadline for Boston is 9/3 for tickets.

Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25

Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble

SRF is active in Lisbon at #IEC2025 thank you KD, JA, VA! Hi Dr. Knowles!
We are at Booth #17 https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-familyjourney-resilience-activity-7366951726001606657-6pcM

Bexicaserin News: New data from the PACIFIC Study, LP352-202, Open Label Extension (OLE) will be presented at the 36th International Epilepsy Congress (IEC) in Lisbon, Portugal (Aug 30 - Sept 3, 2025).

The full results of the open label extension (OLE) of the Phase 1b/2a PACIFIC trial investigating bexicaserin for the treatment of patients with Developmental and Epileptic Encephalopathies (DEEs), will be presented for the first time at the International Epilepsy Annual Congress

Bexicaserin, which has been granted Breakthrough Therapy designation by the FDA, demonstrated reductions in countable and total motor seizure frequency in the extension study comparable to reductions seen in the Phase 1b/2a PACIFIC trial, reinforcing durability of response and validating its progression to Phase 3 trials.

Additional data will be presented from the audiogenic seizure model and the GAERS absence epilepsy model, investigating sudden unexpected death in epilepsy (SUDEP), and seizure reduction respectively.

During the OLE, a median reduction of 59.3% in countable motor seizure frequency was observed, with 55% of participants experiencing reductions of ≥50% compared to the baseline before the PACIFIC trial.

This trial, EMERALD and other studies all at https://curesyngap1.org/resources/studies/

See and comment on Vicky’s recent post on her 7 year SYNGAP1-iversary:
https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-familyjourney-resilience-activity-7366951726001606657-6pcM

Join Citizen Health, we are at 275! We should double that.

https://www.citizen.health/partners/srf

DSCIII Renewed to include SYNGAP1 alongside TSC, SHANK3 (aka PMD) and PTEN.

CFC Starts on 9/1

https://curesyngap1.org/events/fundraisers/combined-federal-campaign-2025/

🔥🌡️ Syngapians don’t like the heat.

Conference is in 96 Days

https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

Pubmed is at 39!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc

SHARE BLOOD TO THE SRF BIOBANK AT CB!

https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/

VOLUNTEER

Join us: https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

4,299 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,420 YouTube. https://www.youtube.com/@CureSYNGAP1
11,298 Twitter https://twitter.com/cureSYNGAP1
46k Insta https://www.instagram.com/curesyngap1/

NEWLY DIAGNOSED?

Resources

https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 180 of #Syngap10

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

View Details

Friday, August 22nd, 2025. Week 34.

The 5th Annual Gala is happening now!

https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-galaforsyngap1-activity-7363593302312402944-W_TZ

cureSYNGAP1.org/Gala5

Sad to miss it? Join us in Boston or South Carolina.

Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25

Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble

Stoke Therapeutics indicates they will have a target for SYNGAP-1 in 2026!

https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-reports-second-quarter-2025-financial-results
12 Aug 2025 “Lead optimization is underway to identify a clinical candidate for the treatment of SYNGAP-1 in 2026. SYNGAP-1 is a severe and rare genetic neurodevelopmental disease.”

Just over 20 FDA approved Oligos and siRNAs today. We are still so early.

https://www.advancingrna.com/doc/moving-beyond-solid-phase-synthesis-the-momentum-of-oligonucleotide-manufacturing-0001

Congrats to Monica E. & Grann Therapeutics, seeing a child dosed for the first time with a novel medicine was remarkable.

https://www.grannpharma.com/press-releases

The SYNGAP1 Village: How Extended Family Can Provide Vital Support
https://curesyngap1.org/blog/syngap1-village-extended-family-can-provide-support/

Here’s a fun topic to discuss with your family, brain donation. https://www.autismbrainnet.org/

55yo with Dravet, lots of insights, Brava to Dr. Andrade and team! https://onlinelibrary.wiley.com/doi/10.1111/epi.18613

SRF joins with CHOP, Wistar and other Philly-area research institutions with a letter to urge legislators to reject NIH cuts.

8/20/25 Letter can be viewed in SRF Public-facing drive

https://drive.google.com/file/d/1HHmCAuRYAQxb_1DtMtkQTz3H8__g9zKq/view?usp=drive_link

Philadelphia Inquirer picked up the story 8/20/25

https://www.inquirer.com/health/medical-research-institutions-reject-nih-cuts-20250820.html

More on #Elopement: Alarms, Roofs, Resonated. Keep talking to doctors about this. Post is up to 139 Votes, percentages little changed, join the conversation on FB. https://www.facebook.com/groups/syngap/posts/1734514154096968/

S10e178 - https://www.youtube.com/watch?v=OiRnXxh0wfY

Conference is in 103 Days

https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

Pubmed is at 38!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc

SHARE BLOOD TO THE SRF BIOBANK AT CB!

https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/

VOLUNTEER

Join us: https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

4,285 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,420 YouTube. https://www.youtube.com/@CureSYNGAP1
11,294 Twitter https://twitter.com/cureSYNGAP1
46k Insta https://www.instagram.com/curesyngap1/

NEWLY DIAGNOSED?

Resources

https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 179 of #Syngap10

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

View Details

Tony (11, M) Story. Now we sleep with the alarm on every night.

Elopement:

involves leaving a safe or supervised area without permission.
poses a risk to the individual's safety.
can occur in various settings.
is a common behavior in individuals with ASD.

Virginie (10, M) Stories and Service Dog.

Single Mom (9, M) heading to the judge and calls me asking for papers. Here you go…

Let’s note that Elopement was masked behind broader buckets and I think this is a miss. We need to name and discuss this very challenging behavior.

FB Survey. 4 hours. 100+ votes, 100 comments. https://www.facebook.com/groups/syngap/posts/1734514154096968/

76% of respondents eloped (35% F, 41% M)

24% didn’t (17% F, 7% M)

11 F, no elopement at home - but sometimes tries to elope while at school.
C ( has always been an eloper - kid has a sixth sense for when someone leaves the door unlocked
C elopes and age 16 years old
H 9 girl constantly running away
B-7.5 years old
Girl - 3
Fourteen. She doesn't anymore, but used to. Not to the degree that other families struggle, but we definitely had to keep an extra close eye/ear. Had bells on all our doors, etc. Did get a call from our neighbor once while I was making dinner saying that S had just walked into her house, that she was safe, and was helping to give their baby a bath. Thankfully they were very good friends and took it in stride. (S was about four at the time.)
Boys age 7. He has for awhile
Boy, age 8.5. Just started eloping more so recently, in the last year.
11, girl
Boy age 15
13 year old girl
Girl-3
Ty 10 elopes since he can walk. It’s our biggest problem.
Boy age 8 but has been doing it for a while
Age 7, girl.
Boy - 14y/o
Boy age 9… he’s a track star!
Boy age 12, has eloped since he could walk/run. It probably peaked around age 6 and got better with meds. Elopement is less frequent now but scarier now that he’s older and higher.
Boy 10. Always has wandered and will still now run off knowing he’s not suppose to
Any chance he gets 13
My boy (22 y/o) always was and is now a master of escape, he can hear if I turn the key in the door, front door has an alarm fitted just in case
Boy , 25 the risk is high because he looks typical
25 yo female, requiring alarms, cameras,and specialized door locks. In a state that says that these measures are unlawful restraint and invasion of privacy

Frazier, 2025. Extremely High finding as a Symptom of SYNGAP1. See Table 2 of Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders

https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16112

McKee, 2025. Notes the significantly heightened enrichment of Autistic Behavior and Behavioral Abnormality vs. Rett, Angelman or Epilepsy cohorts. See Figure 2B of Clinical signatures of SYNGAP1-related disorders through data integration.

https://www.gimjournal.org/article/S1098-3600(25)00066-8/abstract

Cunnanne, notes impulsivity (which is a euphemism for elopement if I have ever heard one) and has three quotes in Table 1 (see below), but also notes in Figure 2 that both ASD and lack of danger awareness came up in almost every interview. See SYNGAP1-Related Intellectual Disability: Meaningful Clinical Outcomes and Development of a Disease Concept Model Draft. https://papers.ssrn.com/sol3/papers.cfm?abstract_id=5098346

Impulsivity quotes:

Runs toward streets - “He wouldn't stop himself from running into the road. He climbs things in that house that you're

like‘oh my god, how are you going to get out of that?’”

Jumps into pools - “He would walk into a pond. We were at the pool the other day…and he

just walked off the edge and just fell into the water and was like… he would have just drowned.”

Runs toward crowds - “She was a bolter. So that was always scary. We had a few scares where you look away for a

moment, I mean, we always had somebody with her, but it could be a moment's time and it's like

where'd you go, you thought she was right there.”

FUNDRAISING

3 events in 3 states… https://mailchi.mp/curesyngap1.org/3-events-1-mission-support-syngap1-families-this-fall?e=e95ed9a1c4

Gala for SYNGAP1 August 22, 2025 - Farmingdale, NJ cureSYNGAP1.org/Gala5

Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25

Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble

Also, Conference is in 107 Days

https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

STUDIES - MATTER

https://docs.google.com/presentation/d/1yRPHMRY3pXPgbOacDM9Sr906VejdJWsonUWvqRD9VVI/edit?usp=sharing

Pubmed is at 37 (One a week!)
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc

SHARE BLOOD TO THE SRF BIOBANK AT CB!

Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/

VOLUNTEER

Join us: https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

4,283 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,420 YouTube. https://www.youtube.com/@CureSYNGAP1
11,303 Twitter https://twitter.com/cureSYNGAP1
46k Insta https://www.instagram.com/curesyngap1/

NEWLY DIAGNOSED?

Resources

https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 178 of #Syngap10

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

View Details

Friday, August 8th, 2025. Week 32.

CURE SYNGAP1 aka SRF is getting more complex daily, and this is a good thing.

Today: Event planning, DCM Advising, Patient Advocacy Connecting, Infrastructure building, Conference Preparation.

DCM - Cunnane: https://pubmed.ncbi.nlm.nih.gov/40494056/

Blog on DCM: https://epilepsygenetics.blog/2025/06/20/revisiting-syngap1-through-a-disease-concept-model/
My comments at the 2024 Conference:

curesyngap1.org/resources/webinars/webinar-103-m-syngap1-conference-family-day-2024-whats-next/

PRESS

Neuren on #NNZ2591 https://www.linkedin.com/posts/curesyngap1_neuren-adds-syngap1related-disorder-to-nnz2591-activity-7359712115668013057-2-HX

CAMP4 in IPM

https://www.linkedin.com/posts/camp4-therapeutics_in-conversation-with-josh-mandel-brehm-ceo-activity-7359584335202541570-X-MX

FUNDRAISING

3 events in 3 states… https://mailchi.mp/curesyngap1.org/3-events-1-mission-support-syngap1-families-this-fall?e=e95ed9a1c4

Gala for SYNGAP1 August 22, 2025 - Farmingdale, NJ cureSYNGAP1.org/Gala5

Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25

Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble

Also, Conference is in 117 Days

https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

STUDIES - MATTER

https://docs.google.com/presentation/d/1yRPHMRY3pXPgbOacDM9Sr906VejdJWsonUWvqRD9VVI/edit?usp=sharing

Pubmed is at 32 (One a week!)
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc

SHARE BLOOD TO THE SRF BIOBANK AT CB!

Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/

VOLUNTEER

Join us: https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

4,265 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,410 YouTube. https://www.youtube.com/@CureSYNGAP1
11,304 Twitter https://twitter.com/cureSYNGAP1
46k Insta https://www.instagram.com/curesyngap1/

NEWLY DIAGNOSED?

Resources

https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 177 of #Syngap10

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

View Details

Wed July 30, 2025

Audience: Any family with a DEE who has a kid who has seizures, yes SYNGAP1 is a DEE and you are always my first audience.

See #S10e133 if you are curious about DEE vs other names. https://curesyngap1.org/podcasts/syngap10/what-is-this-syngap1-illness-disease-syndrome-ndd-dee-mrd5-nsid-actually-called-s10e133/

Action: If your kid has motor seizures, fill out the screener and join this amazing study.

Link here: https://www.resiliencestudies.com/emerald

A motor seizure is a seizure where you can see something moving – including head drops, drops, convulsive, etc. – only excluded seizures are absence, myoclonia and infantile spasms. You don’t need to figure this out, just fill in the screener, let the doctors figure it out.

Questions: Come to live webinar tomorrow, it will not be recorded, so you have to come register here:

https://curesyngap1.org/resources/webinars/webinar-111-introduction-to-praxiss-emerald-study-for-syngap1-patients/

TRIAL.

Any DEE patient with 4 motor seizures a month, minimum.

Age 2-65. Adults are you listening?

24 weeks (6 months) weeks, placebo controlled but everyone will get drug at some point in the trial.

28 weeks (7 months) week OLE, with a chance for expanded access, so if it works, you can stay on.

Fully decentralized, you don’t have to go to a site if you don’t want to.

One US site open so far in Bethesda, there will be others. Int’l sites in 2026. US ENROLLING NOW.

DRUG.

Lots of science and big words in the links below, but here is what you need to know as a parent.

It’s a liquid, can go oral or in a g-tube.
There is no ramp up, you put it in and it works. In terms of speed, think Lorazepam not Lamotrigine.
It’s potent and specific, which means small volume. Roughly 1ml for 10 kg. This will be a rounding error in the face of a normal SynGAPian med regime.
Even though this is a sodium channel drug, it should benefit all DEEs b/c, good to clarify tomorrow, all seizures end with a hyperactive sodium channel firing and that is what Relutragine focuses on.

PRAXIS.

Serious people, lots of work on Epilepsy. Connected to SYNGAP1 and DEEs, just need to move faster on SYNGAP1 ASO!

CSO is Steve Petrou, works with SRF AUS and knows they are waiting.
KD and AN started a company for SCN2A and it was absorbed by Praxis, they are still there and are relentless.
Work on both small molecules and ASO, this is a way for them to see our team in action.

Cool links:

AES 2024 Story. https://eppro01.ativ.me/web/page.php?page=session&project=AES24&id=2894147

Embold read out: https://www.neurologylive.com/view/relutrigine-shows-promise-phase-2-embold-study-scn2a-dee-scn8a-dee

FDA Breakthrough. https://www.globenewswire.com/news-release/2025/07/17/3117145/0/en/Praxis-Precision-Medicines-Receives-FDA-Breakthrough-Therapy-Designation-for-Relutrigine-for-the-Treatment-of-Seizures-Associated-with-SCN2A-and-SCN8A-Developmental-and-Epileptic-E.html

More links. https://delta.larvol.com/Products/?ProductId=05ccb036-a308-4249-abf6-e03b120839da

Why am I doing this?

We need better meds and the way to meds is through trials.
We need to jump at every trial, every time.
This one is decentralized, so minimum burden.
If you get in now, this will be over before it’s ASO trial time, so you could do both.
Our Syngapians with motor seizures tend to be our most severe, we have to make sure we find out if this drug can help. All our kids may progress to this point.

See you at the webinar, fill out the screener now: https://www.resiliencestudies.com/emerald

View Details

July 16, 2025. Week 29.

What is a natural history study (NHS)? And why do we care?

We care because we haven’t done this before, heal those born with disease.

Natural history studies, which examine the progression of a disease over time, can be either retrospective or prospective. Retrospective studies analyze existing data, like medical records, while prospective studies collect new data over time. Both types are valuable for understanding a disease's course and informing research and treatment strategies.

⁠NHS are critical for clinical trial design. Size and Quality matter. Validated scales are better than PROs regardless of what the current rhetoric is.

What’s going on now?

USA - https://curesyngap1.org/resources/studies/syngap1-ProMMiS/ - 135+ over three sites, some with FOUR visits, and counting - Adding GCP - Collaborating with world class institutions and excellent clinicians at Stanford, Children’s Colorado and, of course, CHOP.

USA - https://Citizen.Health/partners/srf has almost 300 patients! Retrospective Health Data.

USA - https://rare-x.org/syngap1/ is where we collect PROs.

Australia - Dr. Sheffer is running a study, talk to her or Dani.

Latin America - SYNGAP1 Argentina with others joining.

Europe - https://www.patre.info/syngap1/

Key takeaways for Industry

SYNGAP1 is well positioned to work with… Vlasskamp and Wiltrout are published, Citizen Health is growing & ProMMiS is truly exceptional – and growing, and Rare-X is collecting eight key PROs. Additionally, there are significant international efforts in Australia, Latin America & Europe.

Census: https://curesyngap1.org/blog/syngap1-census-2025-update-55-in-q2-2025-total-1636/

If you are in industry and thinking about starting another NHS for your asset, please don't. Please instead partner with existing PAGs and NHS studies in your key geographies to move faster, have bigger N and not waste precious patients time, we need to accelerate drug development not slow it down by diluting patients and clinicians between too many studies.

Baseline papers on SYNGAP1:

1998 - Huganir - SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family - https://pubmed.ncbi.nlm.nih.gov/9581761/

2009 - Michaud - Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation - https://pubmed.ncbi.nlm.nih.gov/19196676/

2013 - Carvill - Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 - https://pubmed.ncbi.nlm.nih.gov/23708187/

2019 - Vlasskamp - SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy - https://pubmed.ncbi.nlm.nih.gov/30541864/

2023 - Rong - Adult Phenotype of SYNGAP1-DEE - https://pubmed.ncbi.nlm.nih.gov/38045990/

2024 - Wiltrout - Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism - https://pubmed.ncbi.nlm.nih.gov/38470175/

Pubmed is at 28 (so less than one a week…)
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc

CURE SYNGAP1 CONNECT

https://curesyngap1.org/curesyngap1connect/

SHARE BLOOD TO THE SRF BIOBANK AT CB!

Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/

VOLUNTEER

Join us: https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

4,238 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,400 followers with 575 Videos on YouTube. https://www.youtube.com/@CureSYNGAP1
11,302 Twitter https://twitter.com/cureSYNGAP1
46k Insta https://www.instagram.com/curesyngap1/

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 175 of #Syngap10

RareDisease #PatientAdvocacy #SYNGAP1 #SynGAP #ProMMiS

View Details

July 7, 2025 Week 28

ADAMS CAMP

https://curesyngap1.org/podcasts/syngap10/adams-camp-is-amazing-so-are-compression-vests-s10e110/

CENSUS & WHY WE WILL SEE MORE PATIENTS

AAP recommends Whole Exome as a first line test for GDD/ID.

https://www.linkedin.com/posts/ambry-genetics_exome-cns-patientforlife-activity-7343354049586466816-Jbq_

SYNGAP1 Census 2Q25 +55; new total 1,636, but we need to look at country by country to appreciate how low that is.

https://curesyngap1.org/census/

https://docs.google.com/spreadsheets/d/1oJwMysR2wyTxe91zLlKJglNa0NySPxkBF0PRiV6mBmM/edit?gid=0#gid=0

First patients from Bulgaria, Pakistan, Paraguay, and Uruguay. US, Germany & France growing but UK standing still?

WARRIORS & PARENT STORIES https://curesyngap1.org/syngap-warriors/

Charlotte - Charlotte is 18 months old - diagnosed on May, 2025, just over a month ago. Already been to UNC and planning to go to CHOP. 17I thought it was worth noting the fast action this family is taking.

Martina - First patient from Uruguay.

SYNGAP1 Stories episode 35 Nicole Ciccone, son Jackson (from Georgia, near Atlanta) cureSYNGAP1.org/Stories

IMPORTANT SRF POSTS

Webinar #108 - Repurposing opportunity for SYNGAP1 Specific nonsense mutations with Dr Bruce Bloom, Founder of Fortuity Pharma is up https://curesyngap1.org/resources/webinars/webinar-108-fortuity-pharma-repurposing-nonsense-mutations/

VOLUNTEER SHOUT OUT

Suzanne Vreeland Jones for helping get the resource mobilization group organized in general and attending so many meetings, applying for grants, organizing the drive, and creating a fundraising plan for the rest of the year. And just generally caring about what’s going on and what needs to get done. She’s also the board chair and organizes all of that every 6 weeks. Then there’s so much she’s done and is doing for the conference so far as it is in Atlanta. We can trust it will be a nice event with her helping and being so close.

CONFERENCE - DECEMBER 4th & 5th

Hotel has been selected for Atlanta - Georgia Tech Hotel & Conference Center; see cureSYNGAP1.org/Atlanta

FUNDRAISING - SIBLINGS ARE THE NEXT GEN OF SRF

Fundraiser - LOVING ON LIAM - Emma's Hope for a SYNGAP1 Cure; fundraiser by Liam's sister Emma, who is promising a handmade pin for $5+ donations and over $100 a front flip off the diving board - cureSYNGAP1.org/Liam raised $2,370 in June!

WEBINAR

108 - Repurposing opportunity for SYNGAP1 nonsense mutations with Dr Bruce E. Bloom from Fortuity Pharma is up on YouTube https://youtu.be/4nqCLwuikIE?si=xWtbw-5OP_uMBwK5 and our website cureSYNGAP1.org/Webinars

PRESS RELEASE

https://curesyngap1.org/blog/prof-kristian-stromgaard-awarded-cure-syngap1-grant-research-biomolecular-condensates-pr40/

WHY OUR RESEARCH MATTERS

Bowie Lab Talk on Glutamatergic Neurons. We learn about Intelligence from studying ID.

https://www.youtube.com/watch?v=sfcN2BuZOJw

NUMBERS

PUBMED 334, 26, so -1 vs. weeks.

Follow on Youtube and LinkedIn, they matter.

https://www.linkedin.com/company/curesyngap1/ 4,221

https://www.youtube.com/@CureSYNGAP1 1,390

S10e173 CORRECTION

I credited the Sprint blog to "probably Ed". Thanks, but that one was coordinated by Jo Ashline.

NICOLE’S POST

I hate Autism Awareness Month. It stirs up so many emotions- anger, grief, and frustration for everything autism has taken from my son.

Dear Syngap,

It’s me again. You’d think after all this time, we’d have some kind of understanding. But we don’t. We never will. You barged into our lives uninvited, turned our world upside down, and refused to leave. You’ve taught me lessons I never asked for, dragged us down roads we never wanted to travel. You’ve humbled me, broken me, enraged me.

I’ve cried because of you. Screamed into the silence. Begged the universe for answers it refuses to give. I’ve celebrated victories that should have been simple, ordinary things—but with you lurking in the shadows, nothing is ever simple. If I’m being honest, I hate you. I hate what you’ve done to my son. I hate that you’ve taken things from him that should have been his without question—his voice, his strength, his ease of movement, his peace.

One day, he climbs like he was born to conquer mountains. The next, he struggles to take a step. You’re a thief, Syngap. You steal his vision, rob him of his muscle tone, drain his energy until even smiling feels like work. You wrap yourself around his body, his mind, his very existence, and no matter how hard I fight, you never let go.

You make him miserable. And I hate you for it.

You turn his nights into a battlefield, his sleep stolen by seizures, restlessness, and the chaos you planted in his brain. You keep his words locked inside, hidden in a place I can’t reach. And God, how I wish I could reach them. How I wish I could hear his thoughts, understand the words he wants so badly to say. Instead, I watch. I listen. I hold him when the frustration turns to tears, when his body betrays him, when he fights a battle most will never see.

People don’t see what I see. They don’t hear the cries in the middle of the night or witness the exhaustion in his body. They don’t see the war raging inside him. And me? I’ve been called crazy, overprotective, dramatic. But I don’t care. I’ll wear those labels like armor. Because as long as my son is fighting, I will fight harder.

You tried to take so much from us. You tried to steal my marriage, tried to break my family apart, tried to strip away our joy. You’ve knocked us down, over and over again. But listen to me, Syngap: you will never have us.

And here’s the strangest thing. For all the hell you’ve put us through, you’ve also given me things I never expected. You’ve made me stronger than I ever thought possible. You’ve forced me to fight with a fierceness I didn’t know I had. You’ve shown me how to love deeper, to celebrate what others overlook, to appreciate moments most take for granted.

You take and you take—but somehow, you also build. You break, yet somehow, you make us unbreakable.

But hear me loud and clear: you don’t win.

Tomorrow, my son will wake up, and despite you, he will rise. He will smile. He will fight. He will accomplish things you never thought he could. And I? I’ll be there, standing beside him, fighting for him, daring you to try and stop us.

You don’t get the final say, Syngap. Not today. Not ever.

My son is more than you. And you have underestimated his mother.

Sincerely,

A Syngap Momma

View Details

It’s been a month, in that time we’ve had a few important webinars, published lots of wonderful content & attended BIO in Boston this week. Thank you Virginie for going to BIO

https://www.linkedin.com/posts/virginie-mcnamar_bio2025-theworldcantwait-raredisease-activity-7341849619028430848-I_FD

Ambry was awesome https://www.linkedin.com/posts/graglia_syngap1-ambryknowsgenes-activity-7336183874890231809-Beua

CURE SYNGAP1 CONNECT

https://curesyngap1.org/curesyngap1connect/

CAMP4 Update - Hear it from them, in our US or EU Webinar.

US https://curesyngap1.org/resources/webinars/106-srf-us-know-about-asos-before-syngap1-clinical-trials-camp4-case-study/
EU https://curesyngap1.org/resources/webinars/107-srf-eu-know-about-asos-before-syngap1-clinical-trials-camp4-case-study/

Amlexanox and Cool Science
Amlexanox (Repurposed Readthrough Drug) https://curesyngap1.org/resources/webinars/webinar-108-fortuity-pharma-repurposing-nonsense-mutations/
Cool Science https://curesyngap1.org/resources/webinars/webinar-109-linking-syngap1-and-human-specific-genes-srgap2b-c-that-control-the-tempo-of-synaptic-development/

Inaugural New Family Webinar
Saturday June 28th, 2025, 9 AM Pacific https://curesyngap1.org/resources/webinars/syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/

Tuesday Sept. 9th, 2025, 5 PM Pacific also already scheduled!

https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/

STUDIES - MATTER

ORTAS (need many, 27 signed up, 8 completed.)

https://curesyngap1.org/resources/studies/ortas-observer-reported-toileting-abilities-survey/

BEACON (need 7) https://curesyngap1.org/resources/webinars/98-dreem-eeg-headband-to-assess-sleep-eeg-biomarkers-in-syngap1/

“Dear Families,

This is a brief update on the Communication abilities in Children with Genetic Conditions study.

The Communication abilities in Children with Genetic Conditions study collected parent-reported data on communication ability from 113 families and direct speech and language data from 33 children. Data collection has now closed and research reports are in preparation for the three most successfully recruited conditions; KBG syndrome, SYNGAP1-related disorder, and differences in MED13L. While the study was initially open to a wider group of single-gene conditions, it was only possible to recruit full data sets and large enough samples to produce high quality research reports for these three conditions. While not all of the data collected from families will be included in the research publications, all of the data provided by families has been extremely valuable to the study. Where permission has been given, anonymised data will serve as valuable pilot data to support future funding applications for research on relevant gene conditions.

We thank all families for their valued time and participation in the project. Further updates will share our research reports as they become available.

With best wishes,

Harriet and the Communication abilities in Children with Genetic Conditions study team.”

PRESS

JJ in MD https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-activity-7331703029949267969-7AeK/

Stories #34 with Jo Ashline https://curesyngap1.org/podcasts/syngap1-stories/

Warriors Santiago, Axel and Issac! https://curesyngap1.org/syngap-warriors/

Cafe SYNGAP1 with Dina from NY https://curesyngap1.org/podcasts/cafe-syngap1/dina/

NL45 https://mailchi.mp/curesyngap1.org/make-a-splash-for-syngap1-awareness-45

FUNDRAISING

Sprint Blog is Epic https://curesyngap1.org/blog/sprint4syngap-raises-over-200k-for-syngap1-in-5th-annual-fundraiser/

MDBR just happened Four team members raised $15,795 so far. Thanks to Heather Mestemaker, Justin Albrecht, Aaron Harding, and Alicia Harrison. https://cureSYNGAP1.org/MDBR

Harper $5k match! https://donate.curesyngap1.org/campaign/694764/donate
Liam https://donate.curesyngap1.org/campaign/696438/donate

Story https://donate.curesyngap1.org/campaign/695981/donate

Thank you for your support, still matching! https://donate.curesyngap1.org/campaign/693597/donate

Pubmed is at 24 (so less than one a week…)
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc

Harrison paper on early exons and inherited mutations is great… https://www.eurekalert.org/news-releases/1088068

Cunnane DCM is out and Ingo noticed!
https://epilepsygenetics.blog/2025/06/20/revisiting-syngap1-through-a-disease-concept-model/

She spoke at SRF Conference https://www.youtube.com/watch?v=nXagMfYh9VA

SHARE BLOOD TO THE SRF BIOBANK AT CB!

Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/

VOLUNTEER

Join us: https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

4,185 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,380 YouTube. https://www.youtube.com/@CureSYNGAP1
11,314 Twitter https://twitter.com/cureSYNGAP1
46k Insta https://www.instagram.com/curesyngap1/

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 173 of #Syngap10

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

View Details

Sunday May 18, 2025. Week 21

Show notes on the site: https://curesyngap1.org/podcasts/syngap10/

CAMP4

Press Release https://investors.camp4tx.com/news-releases/news-release-details/camp4-presents-translational-data-syngap1-related-disorders

Dr. Yuri at WODC: https://www.youtube.com/watch?v=oNwgo7TmrVo

Presentation at ASGCT: https://investors.camp4tx.com/news-events/presentations

GETA Talk: https://www.facebook.com/Syngapresearch/posts/pfbid08Aztex32vdwNZduVkPQeG353W49Dhq8iKJeZEkajKUmkeUiDdCwzyqa9ndEVpdCUl

To get these Therapies to kids the NHS data is key, ProMMis

CHOP - Email them ENDD@chop.edu

Stanford (Singed!) - https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/

CHCO - https://curesyngap1.org/blog/visiting-syngap1-natural-history-study-childrens-hospital-colorado-chco/

Citizen Health

https://cureSYNGAP1.org/Citizen is at 267, why not 300?

Hopkins article featuring SRF - Competition is good for the patient

FB https://www.facebook.com/cureSYNGAP1/posts/pfbid07MP7St3zdxLKYXTJULKa5S35YvgL6AJndenHicedxU3rtQF6iY1wwwNUoDuUD9cpl

https://www.linkedin.com/posts/curesyngap1_nih-cuts-stalling-progress-on-rare-genetic-activity-7328449817074946048-AAsB

ASGCT

Mouse poster for Q504X from the JAX, Dr. Matt Simon
- Conf Video https://www.youtube.com/watch?v=loYXkkTSUIY
Presentation on AAV for SYNGAP1 at Allen by Dr. Megan Quinlan

What about this guy?

Gift link: https://www.nytimes.com/2025/05/15/health/gene-editing-personalized-rare-disorders.html?unlocked_article_code=1.H08.E-oX.t5bo6kxJGUOU∣=url-share

PBS: https://www.youtube.com/watch?v=dOeiPoa3gvM

Eric Topol: https://erictopol.substack.com/p/the-first-human-to-undergo-in-vivo

More incredible news

https://news.unl.edu/article/husker-team-wins-second-round-prize-in-nih-gene-editing-challenge

REPURPOSING

Mike’s post in private SRF Group: https://www.facebook.com/groups/syngap

Amlexanox with Fortuity Pharma. https://fortuitypharma.com/

Butyrate Update

https://aesnet.org/abstractslisting/phenylbutyrate-for-syngap1-related-developmental-and-epileptic-encephalopathy

Trial ending at year end, working with SLC6A1 and Rachel Heilmann to continue coverage, then we can scale, once we have a paper.

SunButyrate https://a.co/d/7kiHXS8

PUBMED

328 total with 20 YTD

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=date&sort_order=asc&timeline=expanded

Sleep https://www.sciencedirect.com/science/article/abs/pii/S1389945724005793?via%3Dihub

SRF Fundraisers

MDBR with AJH and HM https://curesyngap1.org/calendar/million-dollar-bike-ride-2025/

Well done to Tavilla and Jones! We are over $221k

Tavilla clears $160k for Sprint.

https://donate.curesyngap1.org/campaign/sprint4syngap2025/c660255

Porter Jones and his friends William, Patrick, and Judson raised over $10k in doughnuts, this netted over $8k because people donated. Amazing and thank you to Krispy Kreme.

https://donate.curesyngap1.org/event/sweets-for-syngap1/e678677

SRF PROFILES

Vicky post in Mexico https://www.linkedin.com/posts/victoria-arteaga-26913433_diagnostico-epilepsia-syngap1-activity-7329725268003069953-R41P

Vicky’s Siblings Violeta and Lourdes, sisters to Amelia https://curesyngap1.org/syngap-siblings/

Harper Albrecht Wednesday Warrior #215 parents Ashley and Justin https://cureSYNGAP1.org/Warrior

PREREGISTER FOR THE CURE SYNGAP1 CONFERENCE

https://curesyngap1.org/calendar/cure-syngap1-conference-2025-hosted-by-srf/

View Details

Email: Ilakkiah.Chandran@uhn.ca about this study!

Languages: English, Spanish, Portuguese and Dutch across the sites in Canada and Netherlands.

All our kids will turn into adults and if you think people don’t understand our kids, wait till they turn into adults! It’s worse. There are less doctors who think in terms of genetic etiology (cause), which makes the literature so much more important. BTW, soon we will have treated and untreated!

Dr. Andrade and her team are the best in the world. Dravet/SCN1A is “the one”

Dr. Andrade has written multiple papers on Dravet and is the world leading expert on monogenic NDDs in adults…

https://pubmed.ncbi.nlm.nih.gov/33677403/

https://pubmed.ncbi.nlm.nih.gov/28186331/

https://pubmed.ncbi.nlm.nih.gov/22780858/

She’s even looking around corners… https://pubmed.ncbi.nlm.nih.gov/40034086/

We have already been given a remarkable paper on SYNGAP1 in adults, but with a very low N=14: https://pubmed.ncbi.nlm.nih.gov/38045990/. Dr. A presented the related data at SRF Conf 2022. https://youtu.be/mRlCA816Af8

CHD2 has one now as well: https://pubmed.ncbi.nlm.nih.gov/39601014/

So there are 9,997 other genes of which at most 100 have decent PAGs which all would love Dr. Andrade and her team to do the same. So… this is our moment.

Please let us know how we can help you to finish these questionnaires: info@cureSYNGAP1.org

Thursday, May 1, 2025 #RareDisease #AdultPhenotype #AndradeRocks #SYNGAP1 #SynGAP #French #Portuguese #Spanish #Dutch #English #Brazil #UK #Canada

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Friday, April 25, 2025 - DNA Day

Good luck at Sprint tomorrow. $194k at this moment.

WODC Readout

Saw friends (Hebbian Bio, Unravel, Ana M, Balaji) and families (HM AN E)

RH Drug talk - https://youtu.be/Hpj72nMFfZc?si=dLVdeRNhVLfjCSar.

(Other Family Day Presentations from SYNGAP1 Conference in LA are on YouTube https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2)

Read out in a panel where we had to really talk through small molecule (broad - LB) vs precision (narrow C4/STK) and broad (Tevard).

ASO Update: Trials need heterogenous populations. At first, I expect we will be looking for PTVs beyond the first 3 or 4 exons. Once approved, or in subsequent trials, I assume it will be available more broadly but not at first. Trials are coming, take notes and videos.

Press Release on Roadmap: https://www.linkedin.com/posts/graglia_progress-in-syngap1-therapeutic-development-activity-7321668845495066624-1dDn

Oliver's Warrior Story - https://curesyngap1.org/syngap-warriors/oliver/

https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

Impact Report Webinar can be watched in its entirety as well as in segments - 18 of them to cover most of the topics discussed are being added to our YT channel at https://www.youtube.com/playlist?list=PLjpr3a14_ls3OvtdFahBr4wAa8BL7aUkv

Effie on TJB

https://www.linkedin.com/posts/graglia_well-deserved-kudos-for-dr-terry-jo-bichell-activity-7321280877068541952-9f_1

CB Blood Drive this weekend in TN. Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/

Newly Diagnosed Resources: https://cureSYNGAP1.org/Resources

View Details

Tuesday, April 15, 2025 – Week 16

CURRENT NEWS

Sprint4Syngap 2025 is in eleven days! Start or join a team and fundraise!

https://curesyngap1.org/sprint25 look at these faces, $167,979 of which $145k+ fromTavillas!

Board Announcement: https://www.eurekalert.org/news-releases/1080490

LEARNING ABOUT SYNGAP1

ProMMiS NHS Webinar from Dr. McKee: https://youtu.be/zozwf1NDB5I we were waiting for this great paper: https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668 which I discussed in #S10e167.

Also, learn from Dr. Knowles, Apple Pod: https://podcasts.apple.com/us/podcast/stanford-medcast/id1529672674

YT https://youtu.be/VBWa0FklYJs

Catatonia, watch these when you can: https://www.linkedin.com/posts/activity-7316937356194844672-PoUi/
Please ask me your ASO Questions - https://www.youtube.com/watch?v=1I0sRVZTY-A For instance, these won't repair, but they will will upregulate... = make work harder.

MORE NEWS

In #S10e168 I talked about Drs Bowie & Willsey, this week I can applaud Postilla!

https://www.linkedin.com/posts/inflames-research-flagship_making-sense-of-missense-in-a-rare-children-activity-7316376546833833986--Qoc/

SIBLINGS

Tell your story, please for the other ones.

https://curesyngap1.org/syngap-siblings/shanaye-worth/

https://curesyngap1.org/sibling-support/

PUBLICATION COUNT

PubMed is at 17 YTD, 325 in total (trending to 52+, but I’m not as confident)

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc

SHARE BLOOD TO THE SRF BIOBANK AT CB!

Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/

VOLUNTEER

Join us: https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

4,009 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,334 YouTube. https://www.youtube.com/@CureSYNGAP1
11,369 Twitter https://twitter.com/cureSYNGAP1
46k Insta https://www.instagram.com/curesyngap1/

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 169 of #Syngap10

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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Wednesday, April 9, 2025 – Week 15

Condolences to the Brimsek family and thank you John & Tobi for all your support. We just shared an interview with our board member and John’s son-in-law, Eric Moulton https://cureSYNGAP1.org/Stories

Trip Report, two crazy days. Many takeaways. Trials may be coming soon. If there is a trail, sign up. Every time. khuba@jcu.edu

Do the Frazier Study and do the follow-ups! https://curesyngap1.org/eye2 Global as well. Australia, UK, Canada, please help.

We are busy too! DiMe announcement just came out https://www.linkedin.com/posts/curesyngap1_new-project-announcement-children-with-activity-7315615778366537728-c-gU

Census is 1,581! https://curesyngap1.org/blog/syngap1-census-2025-update-q1/

Impact report has a webinar! https://cureSYNGAP1.org/Impact

Both featured in Newsletter #44 - https://cureSYNGAP1.org/NL44

Monday 4/14 we have a webinar - Natural History & Clinical Trial Readiness - with Dr. McKee https://cureSYNGAP1.org/Jill

We have one space available in Colorado on May 20, 2025, email Lauren@curesyngap1.org to sign up.

Other blog about the CB Roadshow, please join us there

https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/

And the Polish Community speaking out about ASO trials:

https://curesyngap1.org/blog/aso-choice-for-hope-syngap1-voices-from-poland/

Sprint4Syngap 2025 is in one month! Start or join a team and fundraise!

https://curesyngap1.org/sprint25 look at these faces, $66,383

https://www.youtube.com/watch?v=IW7owIsdjss

Bowie - Our funding goes far:

https://www.eurekalert.org/news-releases/1078836 remember in July 2022 https://www.eurekalert.org/news-releases/960181

Also see this from CZI, featuring SYNGAP1 in Dr. Willsey’s work https://www.czbiohub.org/life-science/unlocking-biology-autism/

PubMed is at 17 YTD, 324 in total (trending to 52+, but I’m not as confident)

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc

VOLUNTEER

Join us: https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

3,996 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,334 YouTube. https://www.youtube.com/@CureSYNGAP1
11,391 Twitter https://twitter.com/cureSYNGAP1
46k Insta https://www.instagram.com/curesyngap1/

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 168 of #Syngap10

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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Wednesday, March 26, 2025 – Week 13

S10e166 was remarkable, #UnMetNeed https://www.youtube.com/watch?v=rut1q0LzdtA, with almost 600 views this is the best S10 episode, ever. Don’t miss it, or the comments. Feel free to add to them!

One of the things we did was make a CTR Survey, we have 130+ respondents, half US, half ROW - Poland and Australia. Not too late to take part: https://forms.gle/tx5CUWXiQMDcJhHA8

Since CHCO PR in #S10e164, we have had two more: Dallman & Sohal

PR36 for GI meds: https://curesyngap1.org/blog/julia-dallman-awarded-grant-for-syngap1-research/

PR37 for Cognition meds: https://curesyngap1.org/blog/dr-vikaas-sohal-ucsf-receives-syngap-research-fund-grant-for-syngap1-therapeutic-strategies/

Sprint4Syngap 2025 is in one month! Start or join a team and fundraise!

https://curesyngap1.org/sprint25 look at these faces https://www.youtube.com/watch?v=IW7owIsdjss

Getting to know our community:

Syngap Stories Podcast - KAH in Episode 32 https://cureSYNGAP1.org/Stories
Cafe SYNGAP1 with Jaime https://curesyngap1.org/podcasts/cafe-syngap1/jaime/
Sibling Story with Kallen https://cureSYNGAP1.org/Sibling
DW of SRF AUS https://www.facebook.com/reel/1345989426605772
Why Attend Cure SYNGAP1 Conference Video https://cureSYNGAP1.org/Pre25
Tomorrow Webinar #100 Impact Report (3/27) https://cureSYNGAP1.org/IR24

PubMed is at 13 YTD, 321 in total (trending to 52+, but I’m not as confident)

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc

Jillian McKee and CHOP team paper on SYNGAP1 now in Genetics in Medicine (https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668) but you can get the Preprint: https://www.medrxiv.org/content/10.1101/2024.10.02.24314452v1.full.pdf

This paper was built on Citizen Health data, remember to sign up/refresh, early and often: Citizen Health - https://www.citizen.health/partners/srf or http://curesyngap1.org/citizen

Bio-Repository and Roadshow Dates

https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit#slide=id.g32f5fa46d32_0_3

Thank you for the 15 glowing reviews of SRF on Great Nonprofits!

https://www.cureSYNGAP1.org/GNP

VOLUNTEER

Join us: https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

3,971 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,311 YouTube. https://www.youtube.com/@CureSYNGAP1
11,427 Twitter https://twitter.com/cureSYNGAP1
46k Insta https://www.instagram.com/curesyngap1/

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 167 of #Syngap10

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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Tuesday, March 18, 2025 - Week 12

SYNGAP1 & Unmet NeedPreface * Let’s separate the notion of symptoms and disease description with lived caregiver and patient experience. When you do this, charts about seizure progression and symptom list lose their sterile veneer and become horror stories. * This is critical because clinicians have become desensitized to patients' complaints and SYNGAP1 caregivers are tired of trying to explain to people how this disease hits you. * SRD is slow moving, but suddenly changing and completely enervating.

Medical: Existing treatments/polypharmacy is woefully inadequate & worsens as patients age: * Unrelenting intractable and worsening seizures cause side effects and require constant vigilance and partnership with Neuros * Medication changes can cause issues such at rage * Long-term side effects, e.g., bone health issues, from chronic medication use * Drug-drug interactions (DDIs) are rarely addressed despite complex prescriptions from multiple specialists (Neuro, Psych, Primary, supplements, etc.) * Some go to challenging non-pharma options: Not to mention tube feeding, keto diet, and neuro surgical options like VNS/CC as well as hip surgery for severe gait.

Behavioral & ID: Our kids have enough physical ability to make behavior very challenging:* Pain and behavior compounded by being non-verbal as they grow * Violence against family—bites and scratches * Violence against self, just sheer frustration * Elopement & no sense of danger as a constant stress/burden * ABA can be helpful if the team is high caliber but often fails due to staffing, rigidity, insurance or lack of skill.

Family: Toll on caregivers & family is a heavy cost that is rarely counted: * Almost all of our kids have severely disrupted sleep and that is a form of torture for the whole family. * Exhaustion from the diagnostic journey, assessments, and caregiving. * Marriages fall apart under the pressure. * Nobody can care for our kids—no respite, no support, schools fail. Parents are afraid to die, fearing what will happen to their children. * Siblings are the last to be noticed but first affected.

Emphasize: The patients are very complex, the system isn’t working, families are in crisis, and they need real solutions.

Parents will travel: * We’ve had 100 patients go to CHOP from all over the USA, no cure here, just expertise. * Example: the day I wrote this presentation I saw these 4 Facebook posts: + VHM at CHOP https://www.facebook.com/virginie.herradormcnamar/posts/pfbid02NbqkEsH84XtaoNc8qma5LsPEsC16NVGmzgq6fXRb3opP4rGJjP2WjGkMUGhbBTjpl + B at CHCO https://www.facebook.com/beata.tarasiuk.56/posts/pfbid0YJ4AxBuxtzoeqHyHHtwP5tLR8jGgRjxzxkJ + CB at WCMC https://www.facebook.com/corey.baysden/posts/pfbid0c7RZtzm8hsB3k5mTGpmiXhaq7xzL9vLptfVn5FYZ8ZcFEuxqiYETHss7eUxpwo8Bl + RR at UCSF https://www.facebook.com/permalink.php?story_fbid=pfbid02JvfR1G33tAg9XRZVXMidstcZYcEjzrqFeutvepYoPVb1RbjTEF1QCJj4kbDdScKQl&id=100088305909698

Episode 166 of #Syngap10

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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Please give my video a watch and SAVE MEDICAID! Do it as if your child's life depends on it. I want to emphasize the importance of the current moment regarding Medicaid, not to alarm you, but to underscore the urgency of the situation. This is a critical time for the well-being of our loved ones, and the need to act has never been more pressing. For over 30 years, I’ve been advocating at the state legislature level and with congressional members, but the potential cuts to Medicaid we are facing now are unlike anything we've encountered before. We must work together to protect this vital resource. Your support could make a significant difference. To reach out to your Congressional Member consider these two resources:- Epilepsy Foundation: https://www.epilepsy.com/advocacy/advocate - ARC of US: https://p2a.co/lRPDZ5C
What Medicaid means to your family: https://action.thearc.org/3jLx90b

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Tuesday, March 11, 2025 - Week 11

CHCO Press Release

https://www.linkedin.com/posts/curesyngap1_syngap1-prommis-research-activity-7305258171642654723-5h2e fill spots, email info@curesyngap1 dot org

SYNGAP1 ProMMiS #SynGAProMMiS

https://curesyngap1.org/resources/studies/syngap1-prommis/

Need your Voice on Unmet Need

Please contact me with stories and permission to share. Mike@

PubMed is at 11 YTD

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc

Willsey Lab on Gut Motility, congratulations to Kate McCluskey

https://pmc.ncbi.nlm.nih.gov/articles/PMC11885846/pdf/41467_2025_Article_57342.pdf

Citizen Health Data in there!

https://www.linkedin.com/posts/citizen-health-inc_citizenhealth-autism-guthealth-activity-7304881198676197376-ng3v
Citizen Health - https://www.citizen.health/partners/srf or http://curesyngap1.org/citizen

Family Conf Video on Drug Repurposing

https://www.youtube.com/watch?v=1S_A1jO28-c - Corey, Lindsay, Zoe and Earl.

Thank you Lindsay.

Unravel BioSciences Discussion/Podcast

Short: https://www.youtube.com/watch?v=xcB8pv2lKRI

Long: https://www.youtube.com/watch?v=CYb0ghaRKm8

LinkedIn: https://www.linkedin.com/posts/unravel-biosciences_raredisease-combinedbrain-drugdevelopment-activity-7302440189782540289-u4sl

Bio-Repository and Roadshow Dates

https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit#slide=id.g32f5fa46d32_0_3

April 24-25th

Nashville, TN

June 14-15th

Westminster, CO

June 18-21th

St. Louis, MO

June 27-28th

Phoenix, AZ

July 10-12th

Boston, MA

July 18-19th

Denver, CO

July 19-20th

Westminster, CO

July 19-20th

Windsor Locks, CT

Sept/Oct TBD

Philadelphia, PA

Dec 4-5th

Atlanta, GA

Share glowing reviews of SRF on Great Non-Profits!

https://www.cureSYNGAP1.org/GNP

ICD-10’s as discussed in #S10e163 (https://www.youtube.com/watch?v=iDvW7HfzSGA) next meeting cancelled. Time to go for ICD-11s.

https://www.cdc.gov/nchs/icd/icd-10-maintenance/meetings.html

DoD Funding

https://umdf.org/cdmrp_cuts_action/

MEDICAIDCANTWAIT

https://thearc.org/policy-advocacy/medicaid/medicaidcantwait/

Episode 164 of #Syngap10

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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Friday, February 28, 2025 - Week 9

Hope vs. Despair?

Despair:

NIH Cuts
NBC https://www.nbcnews.com/science/science-news/trumps-nih-budget-cuts-threaten-research-stirring-panic-rcna191744
NYT https://www.nytimes.com/2025/02/25/briefing/president-trump-vs-medical-research.html?unlocked_article_code=1.0U4.-7WW.F3yrk2tjpLJe∣=url-share
FDA Staffing Cuts
https://www.biopharmadive.com/news/fda-layoffs-trump-doge-hhs-cuts-impact/740499/
Medicaid Cuts https://www.disabilityscoop.com/2025/02/27/house-vote-tees-up-billions-in-cuts-to-medicaid-disability-services/31321/
https://www.politico.com/news/2025/02/27/republicans-medicaid-expansion-budget-00206612
President who doesn’t care https://time.com/7002003/donald-trump-disabled-americans-all-in-the-family/
DOGE head who also doesn’t care

https://www.usatoday.com/story/life/health-wellness/2025/02/25/elon-musk-donald-trump-disabled-people/80112602007/

Hope:

Pipeline https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/
Community https://curesyngap1.org/team/
Global: https://syngapglobal.net/
ICD-10 Code https://www.rareepilepsynetwork.org/about-icd-codes

Disability is Political

Take it or Advocate?

Taking it does not work.

Advocate:

SRF https://curesyngap1.org/srf-legislative-advocacy-efforts-for-syngap1/
ELF https://everylifefoundation.org/
Research America
https://www.researchamerica.org/marys-letters/research-advocates-unite-in-force/
Alliance for a Stronger FDA
https://www.strengthenfda.org/
Modern Medicaid Alliance
https://modernmedicaid.org/about-the-alliance/

Annie Kennedy’s comments at the ELF Capitol Briefing: https://www.youtube.com/live/F6kfKsYCQYU?si=ihWOl7Lda7Steg3p&t=3391

Responsibility to those who cannot or will not be here. 10% of Americans. 10k diseases, all chronic. Childhood. Do not have FDA approved treatments, no cures. Staggering Financial Costs aka Toxicities. Efforts to date have allowed for interventions that may still matter. We have invested so much.

Episode 163 of #Syngap10

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1

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We are on the Hill Advocating for a better future – Sprint, DREEM, Travel & NET - #S10e162

Tuesday, February 25, 2025 - Week 9

ADVOCACY - Thank you Jessica, Jaime and Vicky for repping SRF at ELF RD Week

https://www.linkedin.com/posts/curesyngap1_raredc2025-syngap1-advocacy-activity-7300237949831368705-FIRS

SPRINT4SYNGAP - April 26, 2025

Webinar: cureSYNGAP1.org/S4S25

Guide: cureSYNGAP1.org/S4SGuide

LEVERAGE ON OUR GRANTS

Finland #Missense: https://www.linkedin.com/posts/graglia_kulttuurirahastontuella-skr2025-syngap1-activity-7296289488912191489-rWl-/?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HE

STUDY OF THE WEEK - Email syngap-study@beacon.bio

Dreem: https://curesyngap1.org/resources/studies/beacon-dreem-eeg-device-study-in-syngap1/

Study Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing

IMPACT REPORT

NL43 cureSYNGAP1.org/NL43

ONLINE DID YOU KNOW

We have a calendar now! https://curesyngap1.org/calendar/

Brochure is updated: cureSYNGAP1.org/Brochure

YouTube - Adding Family Day Talks - https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2

COMPANY OF THE WEEK - Stoke & Biogen!

STK ($0.45Bn) partners with BIIB ($20.5Bn)

https://investor.stoketherapeutics.com/news-releases/news-release-details/biogen-and-stoke-therapeutics-enter-collaboration-develop-and

SpecialNeedsTRAVEL

e31 of SYNGAP1 Stories. Navarros - cureSYNGAP1.org/Stories

Comments on YouTube are great, see this presentation by SRF’s Heather on travel… https://youtu.be/c7S7q_gK4Bk?si=wM4Ter_q8-37Yg8V

RESEARCH UPDATE

There are 318 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 10 (Coller included) for 2025.

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded

Frazier paper on NET: https://onlinelibrary.wiley.com/doi/10.1002/aur.3290

VOLUNTEER SPOTLIGHT

Toby and John Brimsek are tireless. Thank you. https://curesyngap1.org/team/volunteers/emily-brimsek-phd/

VOLUNTEER

Join us: https://curesyngap1.org/volunteer-with-srf/

CONFERENCE
Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25

https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1486227/full

SOCIAL MATTERS

3,937 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1.28k YouTube. https://www.youtube.com/@CureSYNGAP1
11.5k Twitter https://twitter.com/cureSYNGAP1
46.6k Insta https://www.instagram.com/curesyngap1/

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 162 of #Syngap10

CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

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Tuesday, February 11, 2025 - Week 7

IMPACT REPORT IS OUT!

Impact Page: https://curesyngap1.org/syngap-research-fund-impact-on-the-road-to-cure-syngap1/

Press Release: https://curesyngap1.org/blog/syngap-research-fund-dba-cure-syngap1-srf-announces-the-release-of-their-syngap1-impact-report-for-2024-pr34/

STUDIES OF THE WEEK - BEACON DREEM

https://curesyngap1.org/resources/webinars/98-dreem-eeg-headband-to-assess-sleep-eeg-biomarkers-in-syngap1/

COLORADO CHILDREN'S HOSPITAL - April & May

https://curesyngap1.org/resources/studies/syngap1-clinic-at-childrens-hospital-colorado/

STANFORD ARTICLE ON SYNGAP1 SEIZURES

https://stanmed.stanford.edu/epileptic-seizures-adaptive-myelination-damage/

Tweet: https://x.com/cureSYNGAP1/status/1889514629799506175

LinkedIn: https://www.linkedin.com/posts/curesyngap1_how-neural-insulation-can-amplify-epileptic-activity-7295282288462860288-mqke

Facebook: https://www.facebook.com/cureSYNGAP1/posts/pfbid02cKdrA8FJJopumKZuQo55JafeCFjEPe5Kg2V1QpmJmJbqwNZ52Yfie4AfyeaZRAvul

RESEARCH UPDATE

There are 317 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 8 (but reall 9 if you count Coller) for 2025.

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded

Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual Disability
https://link.springer.com/article/10.1007/s10803-023-06162-9

ADVOCACY SHOUT OUT

Feb 24-8 in DC! https://www.linkedin.com/posts/curesyngap1_advocates-rarediseaseweek-syngap1-activity-7293314918659854337-IUPx/

Learn from the greats:

April 8 & 9 at St. Jude online

https://stjudeptni.activehosted.com/index.php?action=social&chash=28dd2c7955ce926456240b2ff0100bde.111

IN THE NEWS - Terry P on Kelly Clarkson Show

https://www.youtube.com/watch?v=yLcm0KcgZyc

FUNDRAISING MATTERS

Aaron: https://giving.classy.org/campaign/661441/donate

You: https://curesyngap1.org/resources/webinars/99-sprint4syngap-2025/ 4/15 1pm PST

CONFERENCE
Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25

VOLUNTEER

Join us: https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

3,925 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,270 YouTube. https://www.youtube.com/@CureSYNGAP1
11,512 Twitter https://twitter.com/cureSYNGAP1
47k Insta https://www.instagram.com/curesyngap1/

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 161 of #Syngap10

CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

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Tuesday, February 4, 2025 - Week 6

CONVO - Parent of 18 year old

Travel now.
Get meds under control fast
Don’t do this alone
Don’t give up on the adults
Find doctors who want to learn and think, not dictate.

STUDIES OF THE WEEK - FRAZIER

https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/

Don’t underestimate this tool, please take part in this study.

Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing

ADVOCACY SHOUT OUT

https://www.linkedin.com/posts/sara-driscoll-mba-pe-ab904b49_rdla-syngap1-advocacymatters-activity-7290475540266831873-L2su/?utm_source=share&utm_medium=member_ios

REGULATORY UPDATE - Feb 4 at 4PM EST.

https://www.epilepsiesactionnetwork.org/post/calling-all-epilepsy-stakeholders-join-an-update-on-the-national-plan-for-epilepsy

EF on EPILEPSY
Instagram - Facebook - LinkedIn - X

RESEARCH UPDATE

There are 317 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 7 (but really 8 if you count Coller) for 2025.

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded

- James Clements paper is exciting: https://pubmed.ncbi.nlm.nih.gov/39878322/
- JC LinkedIn: https://www.linkedin.com/posts/james-clement-chelliah_epigenetic-modulation-rescues-neurodevelopmental-activity-7290365551879569409-X_6G/

VOLUNTEER SPOTLIGHT

Aaron Harding is tireless

Donate: https://giving.classy.org/campaign/661441/donate
Video - https://youtu.be/7LprhkhyU5I

CONFERENCE
Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25

VOLUNTEER

Join us: https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

3,922 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,270 YouTube. https://www.youtube.com/@CureSYNGAP1
11,550 Twitter https://twitter.com/cureSYNGAP1
47k Insta https://www.instagram.com/curesyngap1/

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 160 of #Syngap10

CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

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Tuesday, January 28, 2025 - Week 5

STUDIES OF THE WEEK - ROCHESTER 3

We need 3 more 0-2 Year olds.

https://curesyngap1.org/resources/studies/neurodevelopmental-disorders-health-index-study-rochester-phase-3/

NYU - CureSYNGAP1.org/NYU

https://curesyngap1.org/resources/studies/accuracy-of-smart-phone-identification-of-seizures-and-non-seizure-events-in-rare-genetic-epilepsies-nyu-langone-health/

Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing

STUDY HUDDLE on THURSDAY!

1/30 noon ET - register cureSYNGAP1.org/StudyHuddle; main emphasis Rochester, Frazier, NYU

COMPANY OF THE WEEK - Minovacca

SRF put Neuro on their radar and now they are building a company.

https://news.unl.edu/article/nebraska-based-startup-aims-to-improve-human-health-through-targeted-drug-delivery

Press releases for Zempleni: https://curesyngap1.org/blog/syngap-research-fund-srf-continues-support-for-exosome-research-for-syngap1-related-disorders-srd-in-the-lab-of-professor-janos-zempleni-of-the-university-of-nebraska-lincoln-pr25/

https://kevinmd.com/2025/01/how-postmortem-brain-research-is-changing-autism-science-podcast.html

PATIENT ENGAGEMENT IMPROVES OUTCOMES

https://globalgenes.org/report/announcing-early-and-often-reimagining-patient-community-engagement-to-improve-clinical-trials-feasibility/

RESEARCH UPDATE

There are 315 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 4 (but really 5 if you count Coller) for 2025.

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded

Huganir’s latest: https://pubmed.ncbi.nlm.nih.gov/39868300/
Coller with the Poly-A is out: https://www.cell.com/molecular-therapy-family/nucleic-acids/fulltext/S2162-2531%2825%2900007-1
Correction on China census paper, it was a review, we will not up the census.

Note: Coller began working on SYNGAP1 with SRF support in 2022! See https://www.eurekalert.org/news-releases/966873

VOLUNTEER SPOTLIGHT

Deanna N. Rorie nee Farley. Longest running SRF Volunteer ever. Big thanks for all the Warriors.

CONFERENCE
Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25

VOLUNTEER

Join us: https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

3,922 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,270 YouTube. https://www.youtube.com/@CureSYNGAP1
11,565 Twitter https://twitter.com/cureSYNGAP1
47k Insta https://www.instagram.com/curesyngap1/

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 159 of #Syngap10

CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

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RESEARCH UPDATE

There are 313 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 2 for 2025.

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded

Census = 1,530! https://cureSYNGAP1.org/Census, China was only 113, but now they are 246!

Check out these social posts on our https://cureSYNGAP1.org/SRFPaper

https://www.linkedin.com/posts/curesyngap1_syngapresearchfund-syngap1-curesyngap1-activity-7285038902300569602-XTGJ
https://x.com/cureSYNGAP1/status/1879272983077781804
https://fb.watch/x6KdWuLSA8/

STUDIES AND TRIALS ARE HAPPENING NOW
https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/

FUNDRAISING

Coast2Coast Challenge $359,280 Syngap.Fund/C2C
FUNDRAISE https://syngap.fund/FR
Sprint4Syngap is launching… https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2025

VOLUNTEER SPOTLIGHT

Sara Driscoll - https://curesyngap1.org/team/volunteers/sara-driscoll/

CONFERENCE

Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25

VOLUNTEER

Join us: https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

1,260 YouTube. https://www.youtube.com/@CureSYNGAP1
3,906 LinkedIn. https://www.linkedin.com/company/curesyngap1/
11,670 Twitter https://twitter.com/cureSYNGAP1
47k Insta https://www.instagram.com/curesyngap1/
464 TikTok https://www.tiktok.com/@curesyngap1

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 158 of #Syngap10

CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

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Friday, January 10, 2025

NEWS

- Census = 1,530! https://cureSYNGAP1.org/Census
- https://cureSYNGAP1.org/NL42
All 2024 Science Conference videos (27 total) are now on our website and organized in this blog: https://cureSYNGAP1.org/SC24
Pods, listen to this: https://curesyngap1.org/podcasts/syngap1-stories/zoe-bailey/

AES

JW - Everybody who was at AES felt the temperature change. Things are getting real and timelines are moving faster. Our job now is to convince donors that we need more fuel in the tank so we don’t miss opportunities indicative in families that this is no longer one day, but this is soon and they need to get ready.

Veronica Hood: “Disease Modification is on the Horizon for DS” (and the rest of us!) https://dravetfoundation.org/spotlight-on-dravet-insights-from-the-2024-american-epilepsy-society-meeting/

STUDIES AND TRIALS ARE HAPPENING NOW
Rochester, Eye Tracking, Sleep. Please sign up via link below and listen this from Peter: https://x.com/phalliburton/status/1873581064788336988 then start signing up…
https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/

FUNDRAISING

Coast2Coast Challenge $338,280 Syngap.Fund/C2C
FUNDRAISE https://syngap.fund/FR
Go Nikolas! $3,780 https://secure.givelively.org/donate/syngap-research-fund-incorporated/nikola-s-fundraiser
Sprint4Syngap is launching… https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2025

VOLUNTEER SPOTLIGHT:

Ed Gabler https://curesyngap1.org/team/leadership-team/ed-gabler/

RESEARCH UPDATE

There are 312 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 0 for 2025.

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

CONFERENCE

Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25

VOLUNTEER

https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

1,250 YouTube. https://www.youtube.com/@CureSYNGAP1
3,899 LinkedIn. https://www.linkedin.com/company/curesyngap1/
11,688 Twitter https://twitter.com/cureSYNGAP1
47k Insta https://www.instagram.com/curesyngap1/
464 TikTok https://www.tiktok.com/@curesyngap1

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 157 of #Syngap10

CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

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Tuesday, December 17, 2024

Cure SYNGAP1 Conference - Resounding success https://curesyngap1.org/events/conferences/syngap1-conference-2024/

Summary: http://www.draccon.com/dracaena-report/2024aes

A few comments:

https://www.linkedin.com/posts/richardnovak_clinical-rare-activity-7270806450090786816-m0OV
https://www.linkedin.com/posts/haley-tokars-1b2b38209_i-had-the-privilege-of-attending-my-first-activity-7272056324090159104-xFSZ
https://www.linkedin.com/posts/citizen-health-inc_aes2024-rareasone-activity-7270694148825845760-AIzF
https://www.linkedin.com/posts/graglia_syngap-dreem-eeg-activity-7271993151131660288-GESy
https://www.linkedin.com/posts/praxis-precision-medicines-inc_epilepsy-aes2024-ugcPost-7273392536130355200-x2pq
https://www.linkedin.com/posts/syngap1-argentina-382156240_por-tercer-a%C3%B1o-consecutivo-syngap-argentina-activity-7271911668522098688-JlrW
https://www.linkedin.com/posts/stoke-therapeutics_aes2024-epilepsy-activity-7273445932107538433-akYf

Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25,

https://investor.stoketherapeutics.com/events/event-details/understanding-dravet-syndrome-unmet-need-and-potential-disease-modification

STUDIES AND TRIALS ARE HAPPENING NOW - https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/

Two trials to consider

https://med.stanford.edu/autism/studies/pregnenolone-randomized-controlled-trial.html age 14-25

https://deepdeestudy.com/ list of sites: NJ & FL

BONES

https://youtu.be/RhaJnruZCzk?si=bnPtYPsRhOChfsH0
https://curesyngap1.org/blog/navigating-a-lifetime-of-diagnoses-michaels-syngap1-journey-and-the-effects-of-anti-seizure-medications-on-bone-density/

FUNDRAISING

Coast2Coast Challenge $207,974 Syngap.Fund/C2C
Join my team! https://secure.givelively.org/donate/syngap-research-fund-incorporated/coast2coast-clinics-challenge
FUNDRAISE https://syngap.fund/FR
CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

VOLUNTEER SPOTLIGHT:

Stacey Miller https://curesyngap1.org/team/leadership-team/stacey-miller/

Laura Bermingham of SLC6A1 https://curesyngap1.org/team/volunteers/laura-birmingham/

RESEARCH UPDATE

There are 310 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

Latest are from Willsey & Frazier.

Willsey: https://www.biorxiv.org/content/10.1101/2024.12.05.626924v1

Frazier: https://onlinelibrary.wiley.com/doi/full/10.1002/aur.3290

VOLUNTEER

https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

1,240 YouTube. https://www.youtube.com/@CureSYNGAP1
3,883 LinkedIn. https://www.linkedin.com/company/curesyngap1/
11,739 Twitter https://twitter.com/cureSYNGAP1
47k Insta https://www.instagram.com/curesyngap1/
464 TikTok https://www.tiktok.com/@curesyngap1

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 156 of #Syngap10

CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

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Tuesday, November 26, 2024

Annie Passed yesterday #SynGAPAngel

https://www.linkedin.com/posts/graglia_the-syngap1-community-is-at-a-loss-as-we-activity-7267225798602874880-W9hw?utm_source=share&utm_medium=member_desktop

SRF NEWS

Stories just keeps getting better: https://curesyngap1.org/podcasts/syngap1-stories/stacey-miller/
New family video, use YouTube auto translate: Juliana Meza https://www.youtube.com/watch?v=NLkqswEvAQs

Two trials to consider

https://med.stanford.edu/autism/studies/pregnenolone-randomized-controlled-trial.html age 14-25
https://deepdeestudy.com/ list of sites: NJ & FL

Two studies we all need to sign up for

Sign up for Frazier https://syngap.fund/eye2 https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/
Citizen Health https://www.citizen.health/partners/srf

Conference - Conference is 9 days away!

Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093
Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267
Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner

FUNDRAISING

Coast2Coast Challenge $152,592 Syngap.Fund/C2C
Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted
FUNDRAISE https://syngap.fund/FR
CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

VOLUNTEER SPOTLIGHT: Stephanie Decker

https://www.linkedin.com/in/stefanie-decker-cpa-38776696/

ZOOM BACKGROUND

https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing

VOLUNTEER

https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

1,230 YouTube. https://www.youtube.com/@CureSYNGAP1
3,851 LinkedIn. https://www.linkedin.com/company/curesyngap1/
11,779 Twitter https://twitter.com/cureSYNGAP1
47k Insta https://www.instagram.com/curesyngap1/
456 TikTok https://www.tiktok.com/@curesyngap1

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 155 of #Syngap10

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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Friday, November 15, 2024

SRF NEWS

Busy week for Mike & Virginie: Citizen Health & Ultragenyx, not Milken. Sign up for Citizen Health https://www.citizen.health/partners/srf
Growing our name https://curesyngap1.org/blog/syngap-research-fund-srf-announces-dba-cure-syngap1-a-new-era-in-the-search-for-a-cure/
Financials updated with 2023 https://curesyngap1.org/finances/ Thank you Stefanie Decker!
Newsletter #41 - https://Syngap.Fund/NL41 - About why we need a cure - quotes from our families
We're over 100 volunteer bios on the website! More being added every week! Great work Zoe! https://curesyngap1.org/team/
Cafe SYNGAP1 e24 is up! Gloria Amparo Guzmán Cali, Colombia https://syngap.fund/Cafe

4MTx Announcement and direct impact on pipeline

https://www.4mtx.net/news/4m-therapeutics-compounds-to-be-utilized-in-research-project-funded-by-national-institute-on-aging-bjebr
https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/
Speaking of small molecules, get this on Ravicti https://www.medrxiv.org/content/10.1101/2024.11.06.24316676v2

RESEARCH UPDATE

There are 306 papers on or related to SYNGAP1 since 1998, but 48 of those are in 2024!

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

Latest is from Frazier!

https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16112

https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/

More Grants at work Science:

Key Missense Webinar next week https://curesyngap1.org/resources/webinars/virtual-and-experimental-approaches-to-the-pathogenicity-of-syngap1-missense-mutations/
New study at CHOP - Phenotype of the Hispanic SYNGAP1 Family. Details (English or Spanish) at https://Syngap.Fund/CHOPEsp
Bower family blog - Camden's trip to CHCO - https://Syngap.Fund/CamCHCO
Thank you Corey Baysden for getting the Studies so well organized! https://curesyngap1.org/resources/studies/

Conference - Conference is 18 days away!

Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093
Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267
Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner

FUNDRAISING

Coast2Coast Challenge $120,642 Syngap.Fund/C2C
Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted
FUNDRAISE https://syngap.fund/FR
CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

VOLUNTEER SPOTLIGHT:Amber Mickler

https://www.linkedin.com/posts/amber-mickler-9b3534b8_syngap1-weneedacure-raredisease-activity-7263047283305320448-GpQK

ZOOM BACKGROUND

https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing

VOLUNTEER

https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

1,220 YouTube. https://www.youtube.com/@CureSYNGAP1
3,847 LinkedIn. https://www.linkedin.com/company/curesyngap1/
11,815 Twitter https://twitter.com/cureSYNGAP1
47k Insta https://www.instagram.com/curesyngap1/
442 TikTok https://www.tiktok.com/@curesyngap1

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 154 of #Syngap10

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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STUDIES AND A TRIAL

FRAZIER https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/

CHANGES (UK) https://curesyngap1.org/resources/studies/changes-study-adults-an-investigation-into-behaviour-and-physiology-in-syngap1/

PNO https://curesyngap1.org/resources/studies/pregnenolone-treatment-trial-for-individuals-with-autism/

Science:

Chow Press - https://curesyngap1.org/blog/dr-clement-chow-at-the-university-of-utah-receives-support-from-syngap-research-fund-srf-to-accelerate-therapeutic-development-for-syngap1-related-disorders-pr30/
Sohal Webinar - https://curesyngap1.org/resources/webinars/94-targeting-gamma-oscillations-to-improve-cognition/ or https://fb.watch/vBYXj4FY7A/

Conference - Conference is 1 month away!

Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093
Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267
Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner

RESEARCH UPDATE

There are 304 papers on or related to SYNGAP1 since 1998, but 46 of those are in 2024!

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

Latest is from Canada, where they look at the impact of SYNGAP1 on auditory cortex function, social behavior and ability to extinguish fear memories.

https://www.jneurosci.org/content/early/2024/10/08/JNEUROSCI.0946-24.2024.long

FUNDRAISING

Coast2Coast Challenge $92,754 Syngap.Fund/C2C
Missense Account of the Fund $25,940

https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

Charmander $10,585

https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander
- Emmy $8,347

https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted

Lovely blog on Scramble: https://curesyngap1.org/blog/swinging-for-a-cause-the-3rd-annual-scramble-for-syngap1/

ZOOM BACKGROUND

https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing

VOLUNTEER

https://curesyngap1.org/volunteer-with-srf/

FUNDRAISE

https://syngap.fund/FR

CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

SOCIAL MATTERS

1,200 YouTube. https://www.youtube.com/@CureSYNGAP1
3,818 LinkedIn. https://www.linkedin.com/company/curesyngap1/
11,889 Twitter https://twitter.com/cureSYNGAP1
47k Insta https://www.instagram.com/curesyngap1/
442 TikTok https://www.tiktok.com/@curesyngap1

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 153 of #Syngap10

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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Tuesday, October 22, 2024

First Principles

Genetic disease means that gene broken since conception.
Novel medicines are possible ways to fix the gene - Genetic Therapies (ASO &/or AAV), this is recent, before now, kids with these diseases were a “go home and love them” situation.
These are delivered via spinal tap or directly to the brain in leading medical centers.
First though, regulators must approve.

Our job

Develop medicines or get industry to - This is happening see Pipeline
Get regulators to approve trials
Get medical centers up to speed on SYNGAP1-Related Disorders (SRD)

What we are building on

CHOP ENDD funded externally (see #S10e92) and replicating what was built for STXBP1, check last week’s webinar https://curesyngap1.org/resources/webinars/93-endd-chop-2024-syngap1/
Rare-X platform for PRO collection
Regulatory pathway being made clearer every day by Stoke (Dravet), Praxis (SCN2A), Ionis (many) all of whom are working on SYNGAP1 as well.

What we are asking for

We need to raise at least $500k (3rd site), preferably $1.13M (ProMMiS)
Make your largest gift ever to SRF
Fundraise with friends and family
ACES is now ProMMiS, who knew ACE meant Adverse Childhood Event, not us.

Key slides: S1 Path to Treatment | 2024 (09.27.24)

1. Why Now? Why is it time to go from bench to bedside (research to clinical)?
At least 10 companies on our pipeline not to mention multiple small molecule efforts
- We have limited resources – so the focus has to transition, clinical funding first.
- CHOP Gift is 1 year down…
1. Why NHS?
2. Understand SYNGAP1 better, go beyond Vlaskamp 2019 and Wiltrout 2024, see #S10e105
3. FYI at CHOP, as I shared in #S10e151, at year 1, we are at – 86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd) + 22 (follow up)
4. Learn what to measure in clinical trials for SRD, remember our seizures are challenging
5. Ideally we develop a Synthetic Control Arm if we use GCP
6. Why top shelf? We need institutions the FDA will take seriously and our children are very complex requiring experienced clinicians.
1. Why Multidisciplinary.
Neuro, Psych, Genetics, PT, ST, OT, GI, Sleep, ENT, Ortho.
- Beyond the sheer burden of getting our kids out and about for multiple appointments the coordination by a parent is almost impossible.
1. Why Multisite/3 sites?
2. Replicable/scalable required by regulators
3. Accessibility (not primary reason)
4. Establish more locations where trials will be managed
5. Laying a foundation for a national self-sustaining network
6. 3 is the minimum, look at STARR or Angelman, both had/ve 4.
1. How and why so fast?
- Because we can. Time is Brain.
- Following a well trodden path
- SMA, Rett, Angelman, Dravet, but we are moving FASTER.
1. Does the industry really care?
- We are next there are so so many behind us, eager to take the resources we have access to today.
- Market size (Per our Census 425 US/1500 global is tip of iceberg)
- Multiple players reassuring each other
- Relatively strong amount of scientific and clinical research
- Haploinsufficiency (like Dravet – STOKE) – so relatively easy
1. Expensive?
- No. Clinical Research is more expensive than basic scientific research.
- Leveraging CHOP and Rare-X, setting up required networks to prepare for clinical trials.
- It’s time.
1. Why Bother/Help?
- Now is the time for SYNGAP1, we miss it at our peril.
- Sure, once in these places we will still see our patients, but the study, the support and the focus may pass.
- Our kids don’t die, regardless of patient age, what we are doing can change their future and that of their loved ones and caregivers.
- If not us, then who? It is a rare exception when a non-family member gives a gift, and it is always because a family member asked. We must ask.
1. What can I do?
- Donate to, share, join our Coast2Coast Clinics Challenge – two SYNGAP1 Squads in West and East – it’s critical
- $500k goal by end of 2024; more than $1M needed just for the SYNGAP1ProMMiS. So far, donations from $25 to $25,000 – each and every contribution matters.
- This requires our entire S1 network to solicit family, friends, work colleagues, companies, etc. to contribute. Many causes out there – why not ours?
- Syngap.Fund/C2C

https://Syngap.Fund/C2C > https://secure.givelively.org/donate/syngap-research-fund-incorporated/coast2coast-clinics-challenge

Two teams:

https://Syngap.Fund/West & https://Syngap.Fund/East

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📝Full show notes: https://curesyngap1.org/podcasts/syngap10/

Census is at 1,497! Syngap.Fund/Census

Fundraising Season! Gala is tonight in NJ! Syngap.Fund/CLG4 #NLKrox

UFD Tech, $52,094
Scramble, $28,000

Current Efforts:

Coast2Coast Challenge $42,691 Syngap.Fund/C2C
Missense Account of the Fund $23,684

https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

Charmander $10,585

https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander
- Emmy $8,173

https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

ONLINE SHOPPINGS

EBay - We have an eBay shop sell for SRF! https://charity.ebay.com/charity/i/SynGAP-Research-Fund--Inc-/171038

Amazon - https://curesyngap1.org/blog/srf-amazon-storefront-to-cure-syngap1/

FRAZIER STUDY - Half enrolled!

https://Syngap.Fund/Eye2 khuba@jcu.edu

CHOP is 1!

86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd) + 22 (follow up) = DATA
https://x.com/cureSYNGAP1/status/1843684785740255303

School and Behaviour

Go Elle! https://www.govtech.com/education/k-12/special-education-desperate-for-support-amid-severe-behaviors
Do you have an advocate and a lawyer? I just got an email from an advocate. We need to do a webinar with Jackie, Nancy, Elle and others. #NLKrox

On the site

Syngap.Fund/Bones & lit review Syngap.Fund/AEDeffect
Syngap.Fund/Sibling with the inaugural issue from Nancy #NLKrox
Syngap.Fund/InsWin Insurance with Sara Driscoll

Vicky & Merlina are unstoppable

SHER Board: https://www.linkedin.com/posts/sherusaoficial_excited-to-introduce-the-board-of-directors-activity-7250152735403040768-Q18W
Colombia Meeting: https://www.linkedin.com/posts/victoria-arteaga-26913433_raredisease-patientsfirst-collaboration-activity-7246975509358612480-InHP
Cafe SYNGAP1 is up to 20! Syngap.Fund/Cafe

Conference - Conference is 47 days away

Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Register now - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf
Book a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-A

Industry News - Lundbeck is back into the rare epilepsy space through the acquisition of Longboard for the drug bexicaserin

https://www.linkedin.com/posts/anamingorance_lundbeck-signs-25b-check-for-longboard-activity-7251598931069960192-ytkb

MNDU3 re https://pubmed.ncbi.nlm.nih.gov/38967915/ https://www.biospace.com/drug-development/7-children-receiving-bluebirds-gene-therapy-developed-blood-cancers-study

RESEARCH UPDATE

There are 303 papers on or related to SYNGAP1 since 1998, but 45 of those are in 2024!

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

So much to note, Bateup and Silverman with mice, Vanderhaeghen on SRGAP-2, CHOP on EEG…

https://www.cell.com/neuron/fulltext/S0896-6273(24)00645-7

VOLUNTEER

https://curesyngap1.org/volunteer-with-srf/

FUNDRAISE

https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats! CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

1,200 YouTube. https://www.youtube.com/@CureSYNGAP1
3,818 LinkedIn. https://www.linkedin.com/company/curesyngap1/
11,889 Twitter https://twitter.com/cureSYNGAP1
47k Insta https://www.instagram.com/curesyngap1/
442 TikTok https://www.tiktok.com/@curesyngap1

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

SRF Apple Podcast Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 151 of #Syngap10 - Friday, October 18th, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150

📝Full show notes: https://curesyngap1.org/podcasts/syngap10/

FRAZIER STUDY

https://Syngap.Fund/Eye2 khuba@jcu.edu

Praxis DEEp Dive https://x.com/JMGraglia/status/1838548992285896914

SRF Deck https://docs.google.com/presentation/d/1ePB5Ou6bGZ2NWWHIEwkO2dGSRYifyZEJy4KZF2fanq4/edit?usp=sharing

We Need A Cure Yesterday blog https://curesyngap1.org/blog/we-need-a-cure-for-syngap1-yesterday/

Chronic Grief

Al Freedman https://www.linkedin.com/posts/graglia_activity-7240740334329102336-hidL/
Short: https://www.youtube.com/watch?v=Y_5UlBQVe2w

Conference - Conference is 72 days away

Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Register now - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf
Book a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-A
Sponsor alongside Jones, Wieczrek and Graglia.

PR out this week

Lacoste (https://Syngap.Fund/PR28)
https://curesyngap1.org/blog/dr-baptiste-lacoste-receives-syngap-research-fund-grant-for-research-on-vascular-and-metabolic-dysfunction-in-syngap1-related-disorders-pr28/
Devinsky (https://Syngap.Fund/PR29)
https://curesyngap1.org/blog/six-patient-advocacy-groups-collaborate-to-co-fund-a-single-center-observational-study-of-seizure-types-in-rare-genetic-epilepsies-pr29/

UFD Tech Cure Stream - 6 days + 21 hours of live-streaming from Pittsburgh!

September 23 3:00 Eastern to Sept 30 noon.
https://www.justgiving.com/page/ufd-2024
https://www.youtube.com/watch?v=DtOyV2FNJ-s

PRESS ABOUT FOF (Friends of the Fund)

Stoke: https://www.businesswire.com/news/home/20240910810707/en/Stoke-Therapeutics-Presents-Zorevunersen-Data-Showing-Substantial-Reductions-in-Seizures-and-Improvements-in-Multiple-Measures-of-Cognition-and-Behavior-That-Support-the-Potential-for-Disease-Modification-in-Dravet-Syndrome

RESEARCH UPDATE

There are 297 papers on or related to SYNGAP1 since 1998, but 37 of those are in 2024! Now tied for 2nd place with 2009, but this year will be over 43, I’m certain.

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

Three papers to note:

- Missense Server Case Study: https://academic.oup.com/bib/article/25/6/bbae458/7765456?login=false
Rat GAP Paper: https://www.cell.com/cell-reports/fulltext/S2211-1247(24)01084-2

VOLUNTEER

https://curesyngap1.org/volunteer-with-srf/

FUNDRAISE

https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats! CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

Scramble for Syngap - 11 days! - October 5, Greer, South Carolina over $20k https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

TV! https://www.wspa.com/your-carolina/scramble-for-syngap/

SynGAP Research Fund Gala - 24 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

Missense Account of the Fund $23,684

https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

Emmy $8,173

https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

Charmander $5,303

https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander

YOU?

https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

CB Blood Donation accelerates Science! These samples are being used today!

PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

1,140 YouTube. https://www.youtube.com/@CureSYNGAP1
3,789 LinkedIn. https://www.linkedin.com/company/curesyngap1/
11,736 Twitter https://twitter.com/cureSYNGAP1
48k Insta https://www.instagram.com/curesyngap1/
439 TikTok https://www.tiktok.com/@curesyngap1

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

SRF Apple Podcast Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 150 of #Syngap10 - Tuesday, September 24th, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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📝Full show notes: https://syngap.fund/n149

FRAZIER STUDY

https://Syngap.Fund/Eye2 khuba@jcu.edu

SRD JOINS CFC #33321

https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

PRESS ABOUT FOF (Friends of the Fund)

Praxis https://firstwordpharma.com/story/5891543

Unravel https://curesyngap1.org/blog/unravel-biosciences-and-syngap-research-fund-clinical-research-to-accelerate-new-and-repurposed-therapies-for-syngap1-related-disorders-pr27/

RESEARCH UPDATE

There are 295 papers on or related to SYNGAP1 since 1998, but 35 of those are in 2024! Now in 3rd place, but this year will be over 43, I’m certain.

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

Three papers to note:

Humanized Mouse from Penn: https://pubmed.ncbi.nlm.nih.gov/39229131/
Behavioral Phenotype from Hopkins: https://pubmed.ncbi.nlm.nih.gov/38783394/
Catatonia: https://pubmed.ncbi.nlm.nih.gov/39235394/ also on https://www.medrxiv.org/content/10.1101/2024.09.05.24312724v1 for meds for Profound Autism. Recent talk: https://www.youtube.com/watch?v=JiOSKanKRfE

CHRONIC GRIEF

We have to talk about this. We all need support. Pretending this isn’t happening is a disservice to ourselves, our kids and our families.

VOLUNTEER

https://curesyngap1.org/volunteer-with-srf/

FUNDRAISE

https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats!

Smarts for Syngap - DC Trivia Night - Congratulations

Scramble for Syngap - 26 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

TV! https://www.wspa.com/your-carolina/scramble-for-syngap/

SynGAP Research Fund Gala - 39 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

Missense Account of the Fund $23,684

https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

Emmy $8,147

https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

Charmander $5,150

https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander

YOU?

https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

CALENDAR MANAGEMENT

Conference is 87 days away, WE HAVE A ROOMBLOCK & Registration is live!

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

Conference Registration - 89 for Science Day & 88 for Family Day (incl 19 patients)

CB Blood Donation accelerates Science! These samples are being used today!

PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

1,090 YouTube. https://www.youtube.com/@CureSYNGAP1
3,765 LinkedIn. https://www.linkedin.com/company/curesyngap1/
11,600 Twitter https://twitter.com/cureSYNGAP1
48k Insta https://www.instagram.com/curesyngap1/
429 TikTok https://www.tiktok.com/@curesyngap1

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 149 of #Syngap10 - Monday, September 9th, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

View Details

📝Full show notes: https://syngap.fund/n148

BACK TO SCHOOL 2024

Push the schools to do better, at every turn.

Different than 2023: https://curesyngap1.org/podcasts/syngap1-stories/syngap1-stories-episode-016-mike-graglia

STUDY

https://Syngap.Fund/UB (Unravel Biosciences)
3 forms to fill out, please let us know if you want to participate.

PRESIDENT & COO SEARCH

https://curesyngap1.org/blog/srf-is-hiring-position-of-president-chief-operating-officer-coo/

RESEARCH UPDATE

There are 293 papers on or related to SYNGAP1 since 1998, but 33 of those are in 2024! Tied for 3rd place, but this year will be over 43, I’m certain.

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

Latest: GOS UK team calls for more OT and ST vs other patients with DD/ID

https://pubmed.ncbi.nlm.nih.gov/39148034/

PRESS ABOUT FOF (Friends of the Fund)

Fondo joins FECOR -

https://www.instagram.com/p/C-8dJG7vEDd/?igsh=ZmYxYjQzMm43aHlp&img_index=1

JW - https://www.latimes.com/socal/daily-pilot/news/story/2024-08-02/newport-beach-family-seeks-to-ensure-rare-disease-funding-continues

TJB -

X https://x.com/JMGraglia/status/1825949467973136804
L

https://www.linkedin.com/posts/graglia_how-a-midwife-became-a-neuroscientist-to-activity-7231714648767479808-k13w?utm_source=share&utm_medium=member_desktop
F https://www.facebook.com/mike.graglia/posts/pfbid02UjRLWVQRzrD6j3YngnJx1R49cUBb188zKsxauvanSaZnAh7pW6UQntQB7QKFKqSwl

VOLUNTEER NEEDS

Thank you Grants, Aaron & Sarah

Fundraising and Finance
Volunteer! https://curesyngap1.org/volunteer-with-srf/

https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/

Smarts for Syngap - DC Trivia Night - 14 Days - September 4, 2024

Scramble for Syngap - 45 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

SynGAP Research Fund Gala - 59 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

Missense Account of the Fund $21,684

https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

Emmy $6,549

https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

YOU?

https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

CALENDAR MANAGEMENT

Conference is 106 days away, WE HAVE A ROOMBLOCK & Registration is live!

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

Conference Registration - 57 for Science Day & 66 for Family Day

CB Blood Donation accelerates Science! These samples are being used today!

PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

1,070 YouTube. https://www.youtube.com/@CureSYNGAP1
3,744 LinkedIn. https://www.linkedin.com/company/curesyngap1/
11,375 Twitter https://twitter.com/cureSYNGAP1
48k Insta https://www.instagram.com/curesyngap1/
420 TikTok https://www.tiktok.com/@curesyngap1

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 148 of #Syngap10 - Wednesday, August 21th, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

View Details

📝Full show notes: https://syngap.fund/n147

FDA Talk this week! Thank you Beacon! https://syngap.fund/fda24

SRF ADVOCACY - Don’t miss the chance to beef up your advocate muscles, after we get through FDA, the fun has just begun. JK & JJ are amazing.

https://curesyngap1.org/team/leadership-team/jackie-kancir/

ADULT ADVOCACY

SRF & UBC: https://curesyngap1.org/adults-with-syngap1-caregiver-resources/ also /Adult

Interview: https://www.youtube.com/watch?v=JDiD8Z3lWQk
Foundation: https://colinfarrellfoundation.org/

WaPo Article: https://www.washingtonpost.com/health/2024/08/08/what-is-angelman-syndrome-colin-farrell-son/

LEVERAGE PARTNERS

https://globalgenes.org/blog/global-genes-sweet-16th-birthday-success-stories/

Go to GG Rare Advocacy Summit Sept 26 & 27. https://globalgenes.org/week-in-rare/

SCIENCE TEAM

PROJECT ACES - Accelerating Clinical Excellence for SRD - CHCO & Data

PROJECT SBOM - SYNGAP1 Biomarker & Outcome Measures - Analysis

PROJECT SMART - SYNGAP1 Missense Analysis Research & Therapeutics - In flight

PROJECT PURPOSE - Repurposing - Ravicti, NAL, Nortriptyline - Unravel

PROJECT FACILITATE - Tools and Reagents - Mice work in flight

RESEARCH UPDATE

There are 292 papers on or related to SYNGAP1 since 1998, but 32 of those are in 2024! We are more than on track to set a record this year with the biggest annual output being in 2023 with 43 papers. I’ve seen multiple papers being submitted lately, it’a actually hard to keep up.

LINK

LATEST PAPER: https://www.eurekalert.org/news-releases/1053579

WEBINAR: https://curesyngap1.org/resources/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development/

FUNDRAISERS!

Go Australia! https://www.theland.com.au/story/8704556/support-syngap1-research-win-a-toyota-hilux-sr5/

3 state advocates on website & 17 ambassadors with more coming - still need volunteers for many states! Contact Jackie (Adv) or Corey (Amb)

Smarts for Syngap - DC Trivia Night - 24 Days!

Scramble for Syngap - 55 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

SynGAP Research Fund Gala - 68 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

Missense Account of the Fund $21,684

https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

Emmy $6,449

https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

YOU?

https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

CALENDAR MANAGEMENT

Conference is 116 days away, WE HAVE A ROOMBLOCK & Registration is live!

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

Conference Registration - 44 for Science Day (36 caregivers) & 52 for Family Day (36 caregivers, 13 kids/sibs)

CB Blood Donation accelerates Science! These samples are being used today!

PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

1,070 YouTube. https://www.youtube.com/@CureSYNGAP1
3,713 LinkedIn. https://www.linkedin.com/company/curesyngap1/
11,168 Twitter https://twitter.com/cureSYNGAP1
48k Insta https://www.instagram.com/curesyngap1/
418 TikTok https://www.tiktok.com/@curesyngap1

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Cafe Syngap1 #17

https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525?i=1000664777811

Episode 147 of #Syngap10 - Sunday, August 11th, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

View Details

📝Full show notes: https://syngap.fund/n146

Off to Adam’s Camp: https://www.youtube.com/watch?v=WBBEZPLRaBQ #S10e110

Newsletter #39 - syngap.fund/NL39

https://mailchi.mp/curesyngap1.org/thefutureisnow-17390566

Cafe Syngap16

https://curesyngap1.org/podcasts/cafe-syngap1/norma-herrara/

Zempleni Grant

https://curesyngap1.org/blog/syngap-research-fund-srf-continues-support-for-exosome-research-for-syngap1-related-disorders-srd-in-the-lab-of-professor-janos-zempleni-of-the-university-of-nebraska-lincoln-pr25/

Accelerating Clinical Excellence - PROJECT ACE - Multisite Multidisciplinary Prospective Natural History Study (MsMdProNHS) - CHOC

Webinar: https://curesyngap1.org/resources/webinars/91-syngap1-natural-history-study-at-childrens-hospital-colorado/

Will not collect for biobank!

Top 5 from Abbott webinar:

Colorado seeing less patients than CHOP, but could see more if the interest raises. Wherever you are, get to a site. The more data you have, the more industry interest.
This is a partnership between CHOP & CHCO. Data will be shared across all sites. Very good for SYNGAP1 research.
Model successful with other rares, ie CDKL5 and STXBP1.
Visit info: CHCO visits are split over 2 days. Visits will include behavioral support with neuropsych. Multidiciplinary clinic space itself is really nice and well-planned.
SRF board approved travel reimbursement.

Dinner on Saturday, talk to Lauren

To sign up for the Colorado clinic please contact SRF Ops Manager, Lauren Perry, Lauren@curesyngap1.org.

FUNDRAISERS!

Scramble for Syngap - 70 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

SynGAP Research Fund Gala - 83 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

Missense Account of the Fund $21,534

https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

Emmy $5,799

https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

YOU?

https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

CALENDAR MANAGEMENT

Conference is 131 days away, WE HAVE A ROOMBLOCK & Registration is live!

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

CB Blood Donation accelerates Science! These samples are being used today!

Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024)

HNRNPH2 conference (Seattle, WA, July 29-30, 2024)

PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

Hi Zoe! Do you have LGS?

Harmony Biosciences bought Epigenyx

https://www.prnewswire.com/news-releases/harmony-biosciences-acquires-epygenix-therapeutics-inc-adding-late-stage-epilepsy-franchise-to-growing-pipeline-of-innovative-cns-assets-302131000.html

This write is a bit incomplete as it just says 5-HT2, which is a just receptor family:

5-HT2A

5-HT2B - this the receptor linked to cardiac. Fenfluramine, a nonselective serotonin-releasing agent, its adverse effects were linked to activating this receptor

5-HT2C - bexicasarin selectively activates this.

SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

1,060 YouTube. https://www.youtube.com/@CureSYNGAP1
3,703 LinkedIn. https://www.linkedin.com/company/curesyngap1/
11,016 Twitter https://twitter.com/cureSYNGAP1
48k Insta https://www.instagram.com/curesyngap1/
417 TikTok https://www.tiktok.com/@curesyngap1

Here is a way to use it #SyngapSeizure

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 146 of #Syngap10 - July 27, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

View Details

📝Full show notes: https://syngap.fund/n145

2020 COBA GRANT

https://keck.usc.edu/news/ksom-researcher-awarded-130000-from-syngap-research-fund-to-study-rare-genetic-disease/

SYNGAP.FUND/IPSC > https://curesyngap1.org/ips-cell-models/

2022 QUADRATO GRANT & 2022/3 PAPER

MAY 22 PRE-PRINT: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v1.full

SRF PR: https://www.eurekalert.org/news-releases/1050685

2022 ANDERSON GRANT & 2024 PAPER

Webinar: https://curesyngap1.org/resources/webinars/evaluation-of-a-stem-cell-gene-therapy-approach-for-syngap1/

Announcement: https://www.linkedin.com/posts/curesyngap1_syngap1-srfresearch-stemcelltherapy-activity-7215557722614743041-rxOV

Angelman: https://pubmed.ncbi.nlm.nih.gov/33856035/

Transformatx Biotheraputics LLC:

https://cureangelman.org/fast-announces-formation-of-lentiviral-gene-therapy-company

MNDU3: https://www.fiercepharma.com/pharma/fda-wants-classwide-boxed-warning-all-commercial-car-t-therapies-amid-secondary-cancer

TAKEAWAY: Focus on the clinic, and let the best therapy win.

CLINICAL NETWORK / NHS UPDATE

COLORADO webinar postponed, still register, we will notify you via email of the new date. https://syngap.fund/Abbott

To sign up for the Colorado clinic please contact SRF Ops Manager, Lauren Perry, Lauren@curesyngap1.org.

CALIFORNIA SYNAPTOPATHY CLINIC (CSC) starting to see patients, if you are in CA call them.

https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/

FUNDRAISING

Missense Account of the Fund $10k+

https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

Emmy $5k+

https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

YOU?

https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

CALENDAR MANAGEMENT

Rare Across America is 24 days away, registration ends in 10 days!

https://everylifefoundation.org/rare-advocates/rare-across-america/

Conference is 146 days away & Registration is live!

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

CB Blood Donation accelerates Science!

STXBP1 conference (Philadelphia, PA, July 19-21, 2024)

Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024)

HNRNPH2 conference (Seattle, WA, July 29-30, 2024)

PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

1,050 YouTube. https://www.youtube.com/@CureSYNGAP1
3,685 LinkedIn. https://www.linkedin.com/company/curesyngap1/
10,724 Twitter https://twitter.com/cureSYNGAP1
48k Insta https://www.instagram.com/curesyngap1/
415 TikTok https://www.tiktok.com/@curesyngap1

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 145 of #Syngap10 - July 11, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

View Details

📝Full show notes: https://syngap.fund/n144

CENSUS = 1,454

https://curesyngap1.org/how-many-people-have-syngap1-census/

STX version! https://www.stxbp1disorders.org/news/stxbp1-census-q1-2024

FUNDRAISING

Missense Account of the Fund

https://www.linkedin.com/posts/curesyngap1_syngap1-srd-autism-activity-7213973153071472640-uSYE
Explainer - https://www.youtube.com/watch?v=C9bGOA2MFHc

Pipeline - https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/

Emmy

https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

YOU?

https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

PHARMA

https://www.longboardpharma.com/

http://longboardpharma.gcs-web.com/news-releases/news-release-details/longboard-pharmaceuticals-receives-breakthrough-therapy

CIRM

Petition - https://www.linkedin.com/feed/update/urn:li:activity:7210079591275626497

Post - https://www.linkedin.com/posts/nashafitter_rareasone-activity-7212446744511414272-B8qx

Talk - https://david293.substack.com/p/text-of-comments-by-mike-graglia

HOPE - Caring for your SYNGAPian

Rainy’s drive - https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/

My visit - https://www.facebook.com/permalink.php?story_fbid=pfbid0SFg2Mx8jxkS8oeStYn5yqEhYgWVAhhQeX8WiSGQqhPcxpTgtyG1TtbaPMBMTAmVGl&id=100088305909698

Keto is powerful, and tricky https://curesyngap1.org/resources/webinars/keto-mad-syngap-parents-experience-syngap1/

Heat is not good - We need a blog here…

Adenoids and tonsils are an issue - https://curesyngap1.org/blog/syngap-sleep-you-could-be-one-more-test-away-from-helping-your-syngapian-thrive/

CLINICAL NETWORK / NHS UPDATE

COLORADO webinar next week! https://syngap.fund/Abbott

July 11, 2024 at 9 Pacific.

CALIFORNIA SYNAPTOPATHY CLINIC (CSC) starting to see patients, if you are in CA call them.

https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/

CALENDAR MANAGEMENT

Rare Across America is 34 days away, registration ends in 10 days!

https://everylifefoundation.org/rare-advocates/rare-across-america/

Conference is 156 days away & Registration is live!

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

SHOUTOUTS

JACKIE NEW ED OF NCSA

https://www.ncsautism.org/blog/ed

Jess, Zoe, Lauren, Ed, Suzanne, Heather, Corey…

CB Blood Donation accelerates Science!

STXBP1 conference (Philadelphia, PA, July 19-21, 2024)

Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024)

HNRNPH2 conference (Seattle, WA, July 29-30, 2024)

PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

1,040 YouTube. https://www.youtube.com/@CureSYNGAP1
3,660 LinkedIn. https://www.linkedin.com/company/curesyngap1/
10,659 Twitter https://twitter.com/cureSYNGAP1
48k Insta https://www.instagram.com/curesyngap1/
415 TikTok https://www.tiktok.com/@curesyngap1

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 144 of #Syngap10 - July 2, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

View Details

📝Full show notes: https://syngap.fund/n143

BIO WAS GREAT
https://www.linkedin.com/posts/nashafitter_bio2024-activity-7204906035000582145-Meyp

GRANTS APPROVED

Multiple grants and agreements approved, wait for press releases. Thank you Aaron & Sarah, Lauren!

FUNDRAISING

Great work to MDBR - Almost $45k, that will be added to $30k! https://charity.pledgeit.org/t/jY577u7uMc Awesome Peter, Heather, Aaron, Justin Albrect & Kali Worth. Also Dr Jillian McKee!
Blane & Ashley Dallen in Canada raised almost $15k via a tournament.

NHS UPDATE

Colorado should start seeing patients in August! Don’t cancel CHOP appointments, some people have no choice.

CHATS WITH INDUSTRY

Prevalence:

They are easily missed. The math is clear. Lots of data. 1% of ID = 35k+

1/100k at 3.6m in 2023 = 36 a year, minimum with PTV.

5/100k = 180. A YEAR.

Caren is 65.

36 x 65 = 2,340 PTVs vs 400 SRF knows about)

https://curesyngap1.org/blog/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed/

CALENDAR MANAGEMENT

Rare Across America is 28 days away, register now:

https://everylifefoundation.org/rare-advocates/rare-across-america/

Conference is 170 days away & Registration is live!

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

CB Blood Donation accelerates Science!

STXBP1 conference (Philadelphia, PA, July 19-21, 2024)

Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024)

HNRNPH2 conference (Seattle, WA, July 29-30, 2024)

PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

SHOUTOUTS

Zoe https://curesyngap1.org/blog/parents-take-action-after-syngap1-related-disorder-diagnosis/
We need a Pavel award.

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

1,030 YouTube. https://www.youtube.com/@CureSYNGAP1
10,421 Twitter https://twitter.com/cureSYNGAP1
3,652 LinkedIn. https://www.linkedin.com/company/curesyngap1/
49k Insta https://www.instagram.com/curesyngap1/
397 TikTok https://www.tiktok.com/@curesyngap1

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 143 of #Syngap10 - June 18, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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Full show notes: https://syngap.fund/n142

BIG NHS UPDATE

66 Kids evaluated, 11 have had follow-ups, ~20 new kids scheduled.

Colorado should start seeing patients in August!

WHERE TO DONATE

MONEY: MDBR is next week, donate now! https://charity.pledgeit.org/t/jY577u7uMc Thanks to the team. https://Syngap.Fund/Unite

BLOOD: June 7 & 8, Loews Coronado Bay Resort, email CSO@cureSYNGAP1.org

TIME TO JOIN #TEAMSRF

Volunteer Webinar: https://syngap.fund/LT
Fifty families lent their good names to SRF in this wonderful blog: https://syngap.fund/Community
https://curesyngap1.org/volunteer-with-srf/

CHATS WITH INDUSTRY

Is IT delivery a blocker for precision therapies, NO!
2026 is feeling like the earliest we see trials.
BIO with Kathryn next week!

CALENDAR MANAGEMENT

Rare Across America is 66 days away, register now:

https://everylifefoundation.org/rare-advocates/rare-across-america/

Conference is 188 days away:

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

PUBLICATION ALERT

https://x.com/cureSYNGAP1/status/1795837761678962799

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

1,020 YouTube. https://www.youtube.com/@CureSYNGAP1
10,000 Twitter https://twitter.com/cureSYNGAP1
3,591 LinkedIn. https://www.linkedin.com/company/curesyngap1/
49k Insta https://www.instagram.com/curesyngap1/
392 TikTok https://www.tiktok.com/@curesyngap1

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 142 of #Syngap10 - May 31, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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JOIN SRF LT on Thursday:

Volunteer Info session with Leadership Team is this week:

https://syngap.fund/LT Thursday 5/23 at 5:30 Pacific.

MDBR is 3 weeks away! https://Syngap.Fund/Unite

$5k match https://x.com/phalliburton/status/1792288377049415835

It’s all about therapies. Precision Genetic and Repurposed.

Conferences are where we engage professional communities around SYNGAP1 & SRF.

Last week I was at Milken Global. All diseases are talking about biomarkers & endpoints. https://milkeninstitute.org/events/global-conference-2024/program
This week I was at the #Ultragenyx Bootcamp with our CSO

https://www.ultragenyx.com/video-this-bootcamp-helps-parents-advance-rare-disease-research/ So good to see Kathryn energized by this role.

ASGCT was last week and that means announcements…
Kathryn and I are off to BIO in June in San Diego.

Ionis for Angelman

https://www.linkedin.com/posts/cureangelman_exciting-news-for-the-angelman-syndrome-community-activity-7196872264976322563-_rvX

Capsida for STX https://www.linkedin.com/posts/graglia_capsida-biotherapeutics-presents-new-preclinical-activity-7194004214635716608-M01Y

Encoded for STX https://www.linkedin.com/posts/stxbp1-foundation_encoded-therapeutics-provides-pipeline-updates-activity-7196942568859787265-leKO

Nasha at FOXG1 https://www.youtube.com/watch?v=ELKijSx0uwQ

Repurposed therapies are just as important.

Cost effective. Globally available.
They are here now. We must act, the suffering is immense.
They show us what is improvable and therefore inform clinical trial design.
They are not compromising other trials. And to even suggest that is unethical if it suggests people should hold off on helping patients. How about we just diagnose more kids? Or think harder about which kids go to which trials?
Precision Genetic Therapies are going to be more effective than repurposed drugs, people will happily participate in trials.

Review of repurposed drugs:

RAVICTI Rx- 10+ patients with Dr. Grinspan, not all but a few have had significant seizure reduction. I remain worried about cost and look to STXBP1 and SLC6A1 for guidance here.

NORTRIPTYLINE Rx - Has helped me, a handful of families are getting a Rx. I am hopeful that some researcher does an investigator led trial. But until then, ask your Neuro.

ACETYL-LEUCINE is a Nutraceutical - Update 1 has really been noticed and Update 2 will share a few potential mechanisms of action. Many are trying this drug from https://bit.ly/tanganil24 Encouraging… no, updating. Please share data with us if you are trying. We are collecting case studies for Update 3. Thank you to the team here.

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

1,010 YouTube. https://www.youtube.com/@CureSYNGAP1
9,900 Twitter https://twitter.com/cureSYNGAP1
3,560 LinkedIn. https://www.linkedin.com/company/curesyngap1/
49k TikTok https://www.instagram.com/curesyngap1/

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 141 of #Syngap10 - May 20, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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Read Jackie’s article on profound autism, be grateful she is an SRF Leader.

https://helenjournal.org/april-2024/achieving-equity

Watch Brett’s 2 min talk on his son, he’s on your team too.

https://x.com/UFDTech/status/1785111914168594894

Look at all these families that raise a quarter million dollars via #Sprint4Syngap

2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ

$243k, 844 donors
Kaia’s event was wonderful https://curesyngap1.org/syngap-warriors/kaia/
Reef’s family also found connection by helping SRF, video coming soon.

Conferences are where we engage professional communities around SYNGAP1 & SRF.

Last week Vicky was at WODC. https://www.terrapinn.com/conference/world-orphan-drug-congress-usa/
This week Heather Mestemaker was at the GG DDC. https://globalgenes.org/event/rare-disease-drug-development/
Next week I’ll be at Milken Global, it takes a team. https://milkeninstitute.org/events/global-conference-2024/program

It takes a village.

We need to support efforts to help our kids and accept that the system will always fall short, the need for a strong SRF will only grow. The more we unify, the faster it grows.

v1 Drugs - Data - Biomarkers & Endpoints

v2 now we add Improve Clinical Care (NHS Expansion & Repurposing) - Build a sustainable organization.

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

SOCIAL MATTERS

990 YouTube. https://www.youtube.com/@CureSYNGAP1
3,552 LinkedIn. https://www.linkedin.com/company/curesyngap1/
9,852 Twitter https://twitter.com/cureSYNGAP1
49k TikTok https://www.instagram.com/curesyngap1/

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 140 of #Syngap10 - May 2, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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SRF is a “Get-to…” not a “Have-to..” Do something & Go big. #S10e139

Talking with John Get vs Have (https://www.youtube.com/watch?v=J5oBo9zcRUE)
SRF is the same:
- Raise Funds to Change the Future
- Volunteer, contribute to a larger effort
- Connect with other families
- Share our experience to make broader knowledge
- Learn from each other and scientists

Raise Funds

Sprint4SYNGAP 2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ

Newsletter https://mailchi.mp/curesyngap1.org/sprint4syngap?e=8531ca92fd
$197k, 521 donors
See you Saturday, enjoy it.
It’s a get to, people get to support our incredible efforts.

Volunteer
ACTION IS THE ANTIDOTE TO DESPAIR - Joan Baez
- State Reps - May 3rd!
- Advocates - Jackie Kancir and Jess Johnson are killing it.
- Many other roles
- DEI too.

Connect with other Families
- Jaxon Movie is up https://curesyngap1.org/resources/movies/
- Sprint events. Volunteer. Etc.
- Hope drove across the country
Fundraiser https://givebutter.com/zDUIfN
Reel https://www.facebook.com/reel/421525020629131
Interview https://curesyngap1.org/podcasts/syngap1-stories/ #28

Share our experience to make broader knowledge
- FB: www.facebook.com/groups/syngap/
- CHOP is at 99! endd@chop.edu
- Cinci is still recruiting too. Info - https://drive.google.com/file/d/1jLAIe6FTNRGlhPZpouDlYJNPv-d6ICNW/view?usp=drive_link; Survey - https://redcap.research.cchmc.org/surveys/?s=4CYCNJ47RCL7HLN8

Learn from each other & scientists
- https://curesyngap1.org/podcasts/cafe-syngap1/
- Coming soon: Missense Server is Awesome, Frogs too.
- NAL: https://curesyngap1.org/blog/drug-repurpose-update-1-tanganil-acetyl-leucine-for-potential-management-of-syngap1-related-disorder-symptoms/
- Remember new families have resources too! https://syngap.fund/Resources

I’m learning too! Just accepted to #LeadersLink of #FasterCures!
- Presshttps://milkeninstitute.org/article/leaderslink-cohort-2024-2025-fastercures
- X https://x.com/JMGraglia/status/1782778094589460812
- LinkedIn https://www.linkedin.com/posts/graglia_please-join-us-in-welcoming-the-newest-leaderslink-activity-7188548477889449987-DmAX

SOCIAL MATTERS
- 979 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1
- 3,529 Subscribers on LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 9,846 Followers on Twitter https://twitter.com/cureSYNGAP1

Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 139 of #Syngap10 - April 23, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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TOGETHER WE ARE STRONGER

1,400 strong, thank you Jess & team. https://curesyngap1.org/blog/syngap1-census-2024-update-61-in-q1-2024-total-1400/
Stoke webinar: one of the most important considerations for deciding which disease to work on was, “…how strong is the patient advocacy group?”
Stoke CMO Barry Ticho, MD, PhD, FACC during webinar 4/2/24 to discuss findings of STK-001

WELCOME AND CONNECT

New parents are coming fast, reach out to them, tell them how much hope to have.
Connect, connect, connect.
San Diego next week: https://curesyngap1.org/resources/movies/jaxon/
Hope https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/
TU to Emily Barnes who is at FasterCures meeting today in Boston, see #S10e98 to see my thoughts about this workshop https://www.youtube.com/watch?v=iOLjUdVUtqo

TEAM IS GROWING

BOARD - https://www.eurekalert.org/news-releases/1038978

CSO - https://www.eurekalert.org/news-releases/1040061

COO - You?

PRESS

UK https://www.channel4.com/news/govt-send-funding-boost-still-billions-short-says-tory-mp-with-affected-family/
GA https://www.gpb.org/news/2024/04/03/80-of-rare-diseases-are-genetic-thats-why-whole-genome-sequencing-can-help/

What does my genetic report mean?

We wrote a blog, but as I’ve had this conversation a few dozen times, my answer is simpler now. Is it missense or is it truncating? If missense, do more research, if truncating, it is in the first 4 exons (p. Address of 129 or lower).

Who else has it? Look on ClinVar and call SRF.

Blog: https://curesyngap1.org/blog/understanding-your-genetic-report-with-syngap1-a-rare-disease/

STUDIES

https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/

CHOP: ENDD@chop.edu

Adults:

Press Release: https://www.eurekalert.org/news-releases/1040062
Study Info: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view

QOL: https://Syngap.Fund/QOL24 39 and counting.

Sprint4Syngap 2024

Total: $168,572 from 347 people

Tavilla: $126,385 from 62

Big thanks to them and all teams especially those already over $1k, Phoebe, Kaia, Louie, Kiera, Theo, Hadley & Gracyn.

https://curesyngap1.org/events/featured/sprint4syngap-2024/

https://givebutter.com/ALjJXJ

REPURPOSING

NAL, blog coming.
Ravicti, enrolled, and blog on Butyrate coming.
Nortriptyline, has been game changing, discussing a larger trial.

REFLECTIONS

Family Medical Leave Act #FMLA https://www.dol.gov/general/topic/benefits-leave/fmla
Homeschooling… again, avoid the kneejerk. See #S10e64 https://www.youtube.com/watch?v=01uhSjxGgGE
Tony update. Grateful and grieving.

SOCIAL MATTERS

967 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1

3,483 Subscribers on LinkedIn. https://www.linkedin.com/company/18940628/admin/feed/posts/

Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 138 of #Syngap10 - April 4, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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Genetic Therapy Companies (ignoring small molecules, see our pipeline here https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/)

Stoke Therapeutics #StokedAboutStoke

Presser: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-landmark-new-data-support-potential

I did call this in #S10e111 https://youtu.be/i6EZUrqsn2g?si=RN3SLR2vHCjgAiGt&t=706

This study started in #S10e83 https://www.youtube.com/watch?v=7uK2dCs53Ew

Praxis Precision Medicines https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-11

Longboard Pharma https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-reports-full-year-2023-financial

Studies

https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/

CHOP: ENDD@chop.edu

Adults: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view

QOL: https://Syngap.Fund/QOL24

Fundraisers

247 supporters have us at $79k

Team Tavilla is over half of that at $47k

Big thanks to them and all teams especially those already over $1k, Phoebe, Kiera, Kaia & Gracyn.

Rifton bike for S4S anyone at $500+. 247 Supporters!
https://curesyngap1.org/events/featured/sprint4syngap-2024/

https://givebutter.com/ALjJXJ

Social Matters

953 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1

Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 137 of #Syngap10 - March 26, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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Do this study for UCB: https://Syngap.Fund/QOL24

Two killer publications:

Boston -

https://www.linkedin.com/posts/graglia_syngap-research-fund-announces-308000-multidisciplinary-activity-7173732255369035776-HC-9

Penn/ENDD -

https://www.sciencedirect.com/science/article/abs/pii/S153854422400021X

Email Info at CureSYNGAP1 dot org for PDFs!

Visit to UCSF - Exciting new proposal and wait for the Wilsey paper!

Background: https://www.youtube.com/watch?v=pagFzSmYK8E

Repurposing is moving apace! More as we have it. Ravicti. Butyrate. Nortriptyline. Acetylleucine.

Sprint4Syngap is our current fundraiser, get in there and join us!

https://curesyngap1.org/events/featured/sprint4syngap-2024/

https://givebutter.com/ALjJXJ

Sprint4Syngap Total: $33,704. Tavilla Total: $6,695

Nasha Fitter at WH, is a masterclass in advocacy. https://www.linkedin.com/posts/nashafitter_this-rare-disease-day-i-was-invited-to-be-activity-7170089524402802688-50tE

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 136 of #Syngap10 - March 16, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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DC was epic, come next year!

Board Meeting and Leadership Team.
Rare on the Hill - Nancy, John, Vicky, Kathryn, Marta, Suzanne, Jess Johnson!

https://www.facebook.com/suzanne.v.jones/posts/pfbid02pMjKxryjDej62FM2RRA6afyU5JPkdB37dXzVrXMLFzjsWmRTQV2wtR3BNaaFcTK4l

Last week of Feb, don’t miss it.

RareBrewCoffee has launched!

https://rarebrewcoffee.com/ use code SRF10

Reflecting on the latest Rick Huganir paper

This was in part supported (as acknowledged) by our first grant, 5 years ago we funded 10x that last year.
We are not a Rasopathy! https://x.com/cureSYNGAP1/status/1763644994685153654?s=20
We need to have Prof. Huganir do a webinar!

DEI #SyngapWhileBlack Nice work Petersen family

https://qcitymetro.com/2024/02/23/syngap-1-syndrome-autism-epilepsy-treatment/

State Coordinators and Advocates Sign up

We’re looking for state representatives and state advocates - fill out this form if you’re interested - https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewform
Syngap1 Stories Episode 27 - guest host Jessica Johnson with guest Jackie Kancir - released 3/2. Syngap.Fund/Stories

We still do warriors, 198 is from Poland!

https://x.com/cureSYNGAP1/status/1763006900939956252?s=20
https://curesyngap1.org/syngap-warriors/igor/
Are you are warrior yet? https://curesyngap1.org/syngap-warriors/

Repurposing - Thought for the week

When you try a new molecule, any new molecule, take notes, videos and pictures.
IF a drug increases cognition, expect frustration, at first.
Make sure you watch episode 134, even if it’s long because I really go deep on repurposing. https://youtu.be/luhVxDEXlcU?si=BUmyKmTkOvFMVN5Z

Notes, all on Youtube, make sure you subscribe there - 935 today let’s get to 1,000

https://www.youtube.com/@CureSYNGAP1

List of repurposed drugs:

Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8
Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws
NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ
Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs
Fycompa® (perampanel) - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469904/

Siblings - Order a kit, thank you UCB @UCBUSA

https://curesyngap1.org/sibling-support/

Ed’s notes:

Aaron Harding guest on DeafBlind Potter Podcast - "Navigating Life's Challenges: A Journey with SynGAP - An Interview with Aaron Harding" - https://youtu.be/cagNgqmolgk?si=s9vAX1_jl07e4kOY
Jansen Jones, daughter of BOD chair Suzanne, was one of two rare disease children featured in a Rare Disease Day article by Children’s Healthcare of Atlanta - https://drive.google.com/file/d/18lPSXcciyK3OHnSWDXxy1DDVZZvPc-sY/view
Newsletter issue 37 (2/25) includes these and more - https://curesyngap1.org/newsletter/

Scholarship

UCB USA Family Epilepsy Scholarship
Blog - https://Syngap.Fund/UCB24
Diagnosed with Epilepsy or immediate family member or caregiver
Seeking higher education
Application deadline March 15 https://drive.google.com/file/d/1PtAJfqOUkeXhX2NsyxvkB9A-pEHei5pc/view

Fundraising

Get Ready for Sprint - save the date 4/27/24 - sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises $500+ - Syngap.Fund/Sprint24 https://www.rifton.com/ (12 teams signed up as of 3/2 - we had 28 teams in 2023; already have $26,000+ in donations!!! Still a ways to go before we beat last year’s record.)
MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/
S.Carolina3rd annual Scramble 10/5 - link to past events is here: https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/
3rd SYNGAP1 Conference, hosted by SRF in LA
Pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre
Planning committee needs volunteers; if interested in helping, contact stacey@curesyngap1.org #SyngapConf

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 135 of #Syngap10 - March 3, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I

Rochester - Check. I asked in #S10e132 to do this and you stepped up, thank you. We hit 200!

Aparito time Fill this in: https://forms.gle/4EsW3wu8BG4TQrD7A

The intersection of biomarkers and repurposing: The latter could help us figure out which of the former to focus on which could be the difference between a drug making it.

Repurposing:

Friend message - “And I wanted to tell you about the worsening behavior with treatments: a friend of mine has a son with Dravet syndrome, and many years ago they started him on a drug that reduced the seizures quite a bit, and my friend used to say “with this new treatment cleaning his brain from all those EEG interferences, we are starting to see more of his personality… and we’ve realized that we don’t like him”. Very harsh but very real to say”

Morning Video SM vs ASO vs AAV https://www.youtube.com/watch?v=-xp3kTsBz38

List of repurposed drugs:

Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8
Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws
NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ
Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs
Fycompa® (perampanel) - Need to have a webinar on this.

Fycompa ® story from middle market country, Fycompa + Depakine + Risperadone. Wow.

Ethics. Is it ethical to sit back and let our kids suffer?

Thank you to Virginie who is helping with EEG grant and volunteers, we have her back from ciitizen! Thank you to those working on CZI grant too!

Congratulations to Encarnation and the SYNGAP1 European Team for this coverage https://english.elpais.com/health/2024-02-12/unraveling-the-mystery-of-celias-inexplicable-disease.html

Ed said:

Syngap1Stories Episode 26 guest Paulina Polanco - released 2/13. Includes her Family Day talk in Orlando. Syngap.Fund/Stories
Cafe Syngap1 Episode 11 guest Claudio Diaz - released 2/17 Syngap.Fund/Cafe
Get Ready for Sprint - save the date 4/27/24 - sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises >$500 - Syngap.Fund/Sprint24 https://www.rifton.com/ (9 teams signed up as of 2/23 - we had 28 teams in 2023;)
Orlando Family Day Videos
- Uploaded to YouTube (https://www.youtube.com/playlist?list=PLjpr3a14_ls3PKu4oB_aeU_tfyYLE6-jj)
- Added to Paulina’s blog recap of the day (https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/);
- Videos include Science Day Recap as well as a separate video of Mike’s recap on “Where are we now?”, a summary of how parents can prepare for what’s coming in the next couple of years (https://youtu.be/-xp3kTsBz38?si=_qHKRsYz2uJDJR_F).
SYNGAP1 Conference 2024 hosted by SRF - planning committee will start meeting soon; if interested in helping, contact stacey@curesyngap1.org #SyngapConf
SYNGAP1 Sibling Shanaye, a High School senior, is using her platform as the 2023 Hodgeman County Miss Teen Pageant winner to spread the word about SYNGAP1, which affects her younger sister Addison.
- YouTube Video - https://youtu.be/4L32aPNMSeM?si=EqNEhROdzvfGZxEQ
- Addison’s Warrior Story - https://curesyngap1.org/syngap-warriors/addison/
We teamed with Simons Searchlight for their annual Shine Your Searchlight Campaign - if you’re not signed up with Simons yet, sign up now - https://www.simonssearchlight.org/
Sydney & Sandy in S. Africa for Rare-X Rare Disease Conference - https://x.com/sandysmith317/status/1757669120928047520?s=20
We’re looking for state representatives and state advocates - fill out this form if you’re interested - https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewform
- State Representatives - provide a point of contact for SYNGAP1 families (especially newly diagnosed) in your state to assist with information about registries, studies, fundraising, and other resources
- State Advocates - help families in your state navigate difficult systems (education, healthcare, state services, legal, etc.)

Upcoming

Rare Disease Day - join us in DC; two blog posts:
- Rare Disease Day 2024 - what is it and how can you help SYNGAP1?
- You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill
- S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I

Fundraising

Getting organized:
- MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/
- 2nd annual Golf Tourn in Canada 6/8
- CFTC early-mid Sept? Link to past events is here: https://curesyngap1.org/events/fundraisers/cannonball-for-the-cure/
- 3rd annual Scramble 10/5 - link to past events is here: https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/
- 4th annual SRF Gala honoring Caren Leib 10/18 - link to past events is here: https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/
- 3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 134 of #Syngap10 - Feb 24, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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A. MRD5 - https://www.ncbi.nlm.nih.gov/medgen/382611

B. SYNGAP1 NSID - https://pubmed.ncbi.nlm.nih.gov/21237447/ (Hamdan, 2011)

C. SYNGAP1 NDD - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128754/ (Kilinc, 2011)

D. Confusing https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37189 (Parker, 2015)
De Novo, Heterozygous, Loss-of-Function Mutations in SYNGAP1 Cause a Syndromic Form of Intellectual Disability

E. SYNGAP1 DEE - https://pubmed.ncbi.nlm.nih.gov/30541864/ (Vlaskamp, 2019)

F. SYNGAP1 Related-ID - ICD-10 & Hopkins
- https://www.pnas.org/doi/abs/10.1073/pnas.2308891120 (Araki 2023)
- https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/ (ICD-10, 2021)

G. SYNGAP1 Related Disorders - https://www.chop.edu/conditions-diseases/syngap1-related-disorders

H. SYNGAP1 Syndrome - ICD-11
- https://twitter.com/cureSYNGAP1/status/1730629792137883800 (2024)

My vote (today) is that we have a disease that is a DEE called SYNGAP1 Related Disorders (SRD).

These monogenic disorders are anything but monolithic.

Disease vs. Syndrome, read this: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1480257/ (Cavalo, 2003)
A syndrome is a recognizable complex of symptoms and physical findings which indicate a specific condition for which a direct cause is not necessarily understood...Once medical science identifies a causative agent or process with a fairly high degree of certainty, physicians may then refer to the process as a disease, not a syndrome.

NDD vs DEE - We are a DEE
“Neurodevelopmental disorders (NDD) encompass highly prevalent conditions such as autism and epilepsy, with cognitive disabilities alone affecting 1-3% of the global population. Developmental epileptic encephalopathies (DEE) are NDD characterized by epilepsy and delayed development or loss of developmental skills. Although the prevalence of DEEs remains to be determined, studies estimate that single-gene epilepsies occur in around 1 in 2100 births annually.”
https://medicalxpress.com/news/2022-12-neurodevelopmental-epilepsy-disorder-genetic.html

Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

Episode 133 of #Syngap10 - Feb 13, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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TWO Gene therapy INDs approved in the past week!

JAG201 for SHANK3 https://pmsf.org/breaking-news-from-jaguar-gene-therapy/

ETX101 for SCN1A https://encoded.com/press-releases/encoded-therapeutics-announces-us-ind-clearance-and-australian-cta-approval-for-dravet-syndrome-gene-therapy-candidate-etx101/

Mike’s Gene Therapy Cheat Sheet

https://docs.google.com/spreadsheets/d/1jwH5piRH9gOmylz-pCNd_DFnpEHJ6EkFyoaMjidBk6c/edit?usp=sharing

TAKE THE ROCHESTER SURVEY

https://redcap.link/NDDCaregiverSurvey

SPRINT FOR SYNGAP24 is on!

https://Syngap.Fund/Sprint24

APARITO ANNOUNCEMENT

LI - https://www.linkedin.com/feed/update/urn:li:share:7157828674245783552/

X - https://x.com/cureSYNGAP1/status/1751969751621046667

FB - https://www.facebook.com/cureSYNGAP1/posts/pfbid07mabzGJhcZZZkm3vUy9EkZutAtTL16y4gytED52Xyzjayp3ew62zEXiDA8aEsuYWl

This is the program: https://www.aparito.com/patient-group-programme/

RAVICTI GROUP

https://www.facebook.com/groups/butyrate/

Give all three of our podcasts 5 stars everywhere.

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

This is a podcast subscribe!

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Episode 132 of #Syngap10 - February 6, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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SYNGAP1 is complex, we need to partner with our clinicians to improve care & get ready for repurposing. #S10e131

Three patient stories… with the same conclusion, we don’t know enough about this disease.

VNS, very few meds. If that is appealing, look for the VNS parents. www.facebook.com/groups/syngap1vns/
Little lady on Kepra finally getting a new drug.
Big man getting really odd care, based on EEG

These kids are so complicated and the system is just not ready. We can help by supporting the studies I mentioned in #S10e128

1 - NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey

2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca

3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu

4 - USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh!

5 - USA, East of the mountains: ENDD@chop.edu free natural history study! #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado. Please get in there ASAP.

6 - Texas: QEEG at Cook Childrens. Email Corey.

All studies are on https://curesyngap1.org/studies/

REPURPOSING

Also, repurposing is coming fast. 4PB is going into kids in the US and doctors in the Netherlands, Poland and Turkey are paying attention. We have a hit from Chow that we are validating. Rarebase validation is coming soon… The question is how and what to measure. The other question is cost, stay tuned here.

Grinspan https://youtu.be/Rwwdifsu1g8?si=jZSIiguKLMJv5nSh
Rarebase https://youtu.be/z0BdjDaWiMs?si=eTNo0R7kG321XQ8_

Chow https://youtu.be/TphYC3o2BJQ?si=_W66T0SqzE0AQJWm

I’m heading to PMWC tomorrow, really excited to share about SYNGAP1 with Justin, Yael and Nasha. https://pmwcintl.com/session/gene-and-cell-therapies-in-rare-diseases-track_2024sv

New Things to Know about!

CHANGES STUDY

New study in Edinburgh - “Changes Study” - Sydni Weissgold & Dr. Andrew Stanfield with Patrick Wild Centre, the University of Edinburgh - questionnaires, interview, & EEG on child; ages 2-15 with SYNGAP1 diagnosis or no neurodevelopmental diagnosis (for comparison); test is in Edinburgh, follow-up 1 year later

Changes Study - https://drive.google.com/file/d/1GQDl2qFHy0AH1I_z9Fl98wESdnurJPwO/view

All Studies: https://curesyngap1.org/studies/

UCB USA Family Epilepsy Scholarship - https://Syngap.Fund/UCB24

Application deadline March 15
Same org that is giving away Sibling & Caregiver support kits - https://curesyngap1.org/sibling-support/

New blog about our YouTube channel & what you’ll find there - https://Syngap.Fund/YT24 - 368 videos organized into 25 channels - S10, 5 years of Roundtables (Engl & Span), Events, Caren, hidden gems from long ago

Rare Disease Day

What is Rare Disease Day & why is it the last day in February?
You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill

Fundraising

Get Ready for Sprint - save the date 4/27/24
Getting organized:
MDBR 6/8
2nd annual Golf Tourn in Canada 6/8
3rd annual Scramble 10/5
4th annual SRF Gala honoring Caren Leib 10/18
3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre
New webpage - Ways to Give - small ways to encourage our network to give to SRF to fund research: https://Syngap.Fund/Ways

Give all three of our podcasts 5 stars everywhere.

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

Episode 131 of #Syngap10 - January 23, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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All week on an article (coming soon), but still time to…

Meet a couple of new parents, hi Stacey Miller. Conf planning for LA is ON! Stacey will be heading to Stanford. https://curesyngap1.org/events/conferences/syngap1-conference-2024/
See Corey's trip to NYC. You need countable seizures to participate. Watch his talk at the conf.https://youtu.be/Rwwdifsu1g8
Talk to STXBP1 about Natural History Studies. This is something we need to think about together. e.g. a consensus protocol could save us a placebo arm.

PubMed count is up to 2 for 2024, now a story from China. https://pubmed.ncbi.nlm.nih.gov/38171555/

Ed's been busy!

Cafe Syngap Episode 8 went live

https://curesyngap1.org/podcasts/cafe-syngap1/

Conference Family Day Recap by Paulina Polanco

https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/

Conference Science Day Presentation Videos are being added to the blog (both English & Spanish versions, though videos are only available in English); soon they’ll all be added to the blog as well as on YouTube

https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/
https://www.youtube.com/watch?v=dsztjHbsR38&list=PLjpr3a14_ls0mKD_Z6xD0vYHt2JtJ1YBD

Studies - Rochester (need 100 more) https://drive.google.com/file/d/1w35jLJRZC3zCviyCHNHCFeh0dETctzLA/view

CHOP/ENDD (need 50 more)

https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view

Newsletter #36 out Saturday AM Jan 6

https://mailchi.mp/syngapresearchfund.org/2023recap

Resolutions for 2024

https://docs.google.com/document/d/1D-vTe_lH2iyfmu-5DobGx0hT2x7XGwx-WNcW8ElwDBg/edit

Attend a conference or two (pre-register for Los Angeles)

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

Write a blog, make a movie, share your Warrior’s story, be a guest on Stories or Cafe (contact AFrye@curesyngap1.org or Merlina@curesyngap1.org)

Upcoming

Webinar #86 James Goss (Five Years of Funding Innovative Research for SYNGAP1) link https://Syngap.Fund/Five Jan 18, 12:00 ET, 9:00 PT
Rare Disease Day - join us in DC; two blog posts:

What is Rare Disease Day & why is it the last day in February?

https://curesyngap1.org/blog/what-is-rare-disease-day-why-is-it-the-last-day-in-february/

You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill

https://curesyngap1.org/blog/you-should-represent-syngap1-during-rare-disease-week-on-capitol-hill/

1 - NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey

2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca

3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu

4 - USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh!

6 - Texas: QEEG at Cook Childrens. Email Corey.

All studies are on https://curesyngap1.org/studies/

Give all three of our podcasts 5 stars everywhere.

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

Episode 130 of #Syngap10 - January 12, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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I talked about Longboard in #S10e71 (August 2022) https://www.youtube.com/watch?v=iPoOjKBwPfY, and e65 and e67. Here is the data:

https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-announces-positive-topline-data

Conf was really good, I got feedback from Industry today with a great idea: Theater program for trial recruitment. Not too early to pre-register for LA! https://curesyngap1.org/events/conferences/syngap1-conference-2024/

Publications matter, we have 44 in 2023 which is a record, if we keep growing we should have 1 a week! (But it's never linear.)

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=pubdate

Guess what the first pub in 2024 is about, CBD!

https://www.linkedin.com/feed/update/urn:li:activity:7148489940832505857

This reminds me of a crazy story I heard this week, I need to share:

Dr. won't add Clobazam
Dr. pulled rec for CHOP with silly argument, Why he was wrong:
- QEEG is different
- Experts are experts and too few
- IRB approved studies gather data in a consistent way and help identify endpoints.

Year in Review - we are moving mountains: https://curesyngap1.org/blog/srf-syngap1-the-year-in-review-2023/

Tony Update, 10 tomorrow.

It's been a rough year
MVSD has failed spectacularly
All the schools are full and the one that wanted to grow, can't.

1 - NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey

2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca

3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu

4 - USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh!

6 - Texas: QEEG at Cook Childrens. Email Corey.

All studies are on https://curesyngap1.org/studies/ (edited)

Give all three of our podcasts 5 stars everywhere.

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

Episode 129 of #Syngap10 - January 5, 2024

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer #S10e128

A few studies to make sure you are in over the holidays! One brand new!

NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey
GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca
GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu
USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh!
USA, East of the mountains: ENDD@chop.edu free natural history study! #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado. Please get in there ASAP.
Texas: QEEG at Cook Childrens. Email Corey.

All studies are on https://curesyngap1.org/studies/

Research Matters:

Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic - Free download until 2.1.24 1 with this link! https://authors.elsevier.com/c/1iFXZ5Qt1G-z5i - Webinar with 1st Author Ben Thomas coming in 2024!
43 Papers on Pubmed to date! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2023-2023&sort=pubdate

Fundraising - Let’s get to $2M!

Give Up Your Cup - https://Syngap.Fund/GUYC23
Hope for Harper is a great success - Thank you Justin and Ashley https://syngap.fund/harper

Reminder on resources:

Resources for Newly Diagnosed Families - https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families/
Tell your Warrior Story - Deanna@curesyngap1.org
Volunteer - https://curesyngap1.org/volunteer-with-srf/
New Sibling Page - https://curesyngap1.org/syngap-siblings/

Great Press Lately -

Suzanne! https://www.atlantanewsfirst.com/2023/12/21/georgia-parents-raising-awareness-their-daughters-rare-genetic-disorder/
Exciting! https://www.thetransmitter.org/spectrum/syngap1-findings-illuminate-links-between-mutations-intellectual-disability/
More on Organoids… https://news.wisc.edu/stem-cell-technology-developed-at-uw-madison-leads-to-new-understanding-of-autism-risks/
Chicagoland… https://phys.org/news/2023-11-approaches-gene-insufficiency.html

Pods to catch up on!
Cafe Syngap1 Episode 7 is live!

https://podcasts.apple.com/us/podcast/episodio-07-marisol-parra-y-su-hija-isabella-desde/id1705809525?i=1000638623895

The Juggle is Real

Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real

Give all three of our podcasts 5 stars everywhere.

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

Episode 128 of #Syngap10 - December 22, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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12/28/20 - SRF Blog - https://curesyngap1.org/blog/10-reasons-we-chose-ciitizen-for-the-syngap1-digital-natural-history-study-srfdociitizen/

9/7/21 - Invitae Press Release Acquisition - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2021/Invitae-to-Acquire-Ciitizen-to-Strengthen-its-Patient-Consented-Health-Data-Platform-to-Improve-Personal-Outcomes-and-Global-Research/default.aspx

9/20/22 - Praxis uses ciitzen data for FDA submission for SCN2A https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html

10/25/23 - Pre-print of paper on SCN2A EEG Biomarker where ciitizen was involved https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1

12/1/23 - AES Poster - https://x.com/JillianLMcKee/status/1731420167672942878/

12/13/23 - Invitae Press Release Divest - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2023/Inv[…]h-Data-Platform-and-Implements-Further-Cost-Cuts/default.aspx

12/13/23 - Ciitizen Announcement - https://www.ciitizen.com/announcement/

Dream Team

https://www.linkedin.com/in/nashafitter/

https://www.linkedin.com/in/faridvij/

https://www.linkedin.com/in/elli-brimble-82774798/

https://www.linkedin.com/in/deven-mcgraw-6650285/

Hope for Harper is still going, help us meet the $15k match!

https://syngap.fund/harper

https://givebutter.com/uNxleH

The Juggle is Real

Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real

Give all three of our podcasts 5 stars everywhere.

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

Episode 127 of #Syngap10 - December 14, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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Today a SYNGAP1 patient was dosed with 4PB. Thank you Dr. Grinspan!

Have you seen our new site? Thx Ed, Dan and team! www.cureSYNGAP1.org

Finances, we have two years of audited financials on https://curesyngap1.org/finances/

There are two reviews of the SYNGAP1 Conference and one of AES you need to read

S1 https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/

S1 https://www.draccon.com/dracaena-report/syngap2023

AES https://www.draccon.com/dracaena-report/aes2023

End of year Giving is afoot!

Give up your cup https://givebutter.com/Iuwfzd

Albrecht Match https://givebutter.com/uNxleH aka Syngap.Fund/Harper

General Giving https://curesyngap1.org/donate/

https://www.eurekalert.org/news-releases/1006753

Give all three of our podcasts 5 stars everywhere.

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

Episode 126 of #Syngap10 - December 12, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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ICD-11 = LD90.Y #LD90Y

https://x.com/cureSYNGAP1/status/1730629792137883800

Adult paper and study

https://x.com/AledoNeuro/status/1726206128390848604

AES - Lots of SYNGAP1 incl paper with ciitizen data

https://x.com/JillianLMcKee/status/1731420167672942878

RT23 - Science: Repurposing, VUS, Genetic Tx & Biomarkers

Chow https://x.com/CNSdrughunter/status/1730233903602872424
VUS https://x.com/CNSdrughunter/status/1730268276989571512
Genetic Therapies https://x.com/dretico/status/1730298959824875741

FD23 - 60 Families from 16 Countries. Awesome leadership.

Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)

https://www.eurekalert.org/news-releases/1006753

Give all three of our podcasts 5 stars everywhere.

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

Episode 125 of #Syngap10 - December 6, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123

Giving Tuesday - 11/28/23 - https://Syngap.Fund/GT23

SyngapConf https://Syngap.Fund/RT23

To help onsite with set up, registration, or anything else, contact Ashley (Afrye@curesyngap1.org), Kali (Kali@curesyngap1.org), Corey (Corey@curesyngap1.org) or Ed (Ed@curesyngap1.org) or see them in Orlando!

FasterCures https://www.harpercollins.com/products/faster-cures-michael-milken?variant=40641765802018

Bravo to Jess Johnson & EAN

https://moco360.media/2023/11/17/new-moco-based-organization-brings-advocacy-for-epilepsy-funding-to-congress/

Amazing paper out from USC

https://stemcell.keck.usc.edu/autism-linked-gene-syngap1-could-impact-early-stages-of-human-brain-development/

Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)

https://www.eurekalert.org/news-releases/1006753

Give all three of our podcasts 5 stars everywhere.

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

Episode 124 of #Syngap10 - November 18, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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Three Todos:

1 - Come to the #SRFconf and be sure to buy dinner tickets!

https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund

2 - DC Families, go to this 11/14 event EAN matters: https://shoutout.wix.com/so/c7OkLF5nz

3 - Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)

https://www.eurekalert.org/news-releases/1006753

EEGS MATTER

To get an EEG Biomarker, you need to collect EEGs. Not simple.

This eg from Angelman in 2021. (Syndrome defined in 1965, UBE3A in 1997)

https://www.sciencedirect.com/science/article/pii/S2667174321000380

Check out this 2023 example for SCN2A (gene 1989, patient 2001) https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1

SYNGAP1 (gene 1998 Huganir, patient 2009 Michaud)

Where’s our paper?

Beacon Biosignals is a company we know: https://beacon.bio/

You are entitled to a copy of your medical records under HIPAA and they have 30 days to get it to you.

https://www.hhs.gov/hipaa/for-professionals/faq/right-to-access-and-research/index.html

EEGs (in .edf format) are much bigger than the rest of your medical records (pdf and images). Check out Tony’s

https://drive.google.com/drive/folders/1vUMRMtnvTJJi7WEwcSrDSLArGL3vzFxH?usp=sharing

Give all three of our podcasts 5 stars everywhere.

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

Episode 123 of #Syngap10 - November 3, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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Study Invitation - Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials. Sign up now for this #SRFunded effort - #S10e122 #SRFFrazier

We need endpoints and assessment tools. We can help make it happen with this study. Let’s get to 100 participants.

SRFFrazier Grant 1 https://www.prnewswire.com/news-releases/syngap-research-fund-announces-srffrazier-grant-to-dr-thomas-frazier-of-john-carroll-university-301219503.html

How to join study! https://drive.google.com/file/d/1rbJ1zwX3UVDJzWq2oa8fWKL--Wik4gF-/view?usp=drive_link

Two papers already!!

Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndrome

https://pubmed.ncbi.nlm.nih.gov/37045800/

Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes

https://pubmed.ncbi.nlm.nih.gov/37534867/

Raise funds for SYNGAP1 Research via SRF

https://syngap.fund/give

https://syngap.fund/gt23 > https://givebutter.com/SwK5Gt

29 Days until the Conference - Join us!

https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund

SyngapConf Conference Agenda!

S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I

Detailed Agenda is here https://drive.google.com/file/d/1iKD-ZpDICXcaU85oBj0uWVVWuGrLJWJl/view

Give all three of our podcasts 5 stars everywhere.

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

Episode 122 of #Syngap10 - November 1, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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“The grant will fund the computational analysis of SYNGAP1  missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.”

Types of mutations

https://youtu.be/xYOK-yzUWSI

SYNGAP1 on Alphafold

https://alphafold.ebi.ac.uk/entry/F6SEU4

Dr. Underbake on Disordered/Unstructured Proteins

https://youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830

Common Missense

https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344

Young c.980T>C p.Leu327Pro

http://clinvar.com/ SYNGAP1 c.980C>T

2015 UK https://pubmed.ncbi.nlm.nih.gov/26079862/

2018 SK https://pubmed.ncbi.nlm.nih.gov/29390993/

SRF iPSCs

https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments

Dr. Courtney Grant

https://www.eurekalert.org/news-releases/957967

Dr. Courtney Webinar https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations

Dr. Haas Webinar

https://www.syngapresearchfund.org/webinars/functional-assessment-of-missense-variants-of-syngap1-kurt-haas

EpiMVP

https://epimvp.med.umich.edu/

https://leonandfriends.org/ started this work

https://www.syngapresearchfund.org/leon

S10e73 https://www.youtube.com/watch?v=FJgXP4l0cuk

35 Days until the Conference - Sign up by Halloween.

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf

SyngapConf Conference Agenda Announced!

S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I

Press release https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf

Give all three of our podcasts 5 stars everywhere.

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

Episode 121 of #Syngap10 - October 25, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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SyngapConf Conference Agenda Announced!

https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf

37 Days until the Conference - Sign up by Halloween.

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf

Dinner is Separate - Join us!

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-caregiver-dinner

Nancy is a gem

https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-020-nancy-kessler

Gala was a huge success

https://www.syngapresearchfund.org/families/caren-leib-gala-syngap-research-fund

PCEM2023 was fun

https://x.com/Science_Hood/status/1716471587275227389

Vicky’s at #BIOPatientSummit23

https://x.com/VickyAArteaga/status/1716506175024361836

https://x.com/VickyAArteaga/status/1716176260244611354

Give us 5 stars everywhere.

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

Episode 120 of #Syngap10 - October 24, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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My trip summary to CHOP.

Melissa and her family are remarkable. “Doing this for the next generation.”

Why are we afraid to hope? Because fear is winning. Everything comes from Fear or Love. Focus on the love. Feed that one.

https://www.demellospirituality.com/love-or-fear/

https://www.urbanbalance.com/the-story-of-two-wolves/

UFDCure Cannonball - October 4-6

$128,075.83 so far at 83.6%

https://www.youtube.com/watch?v=ilnPIwVy6oY

https://www.syngapresearchfund.org/cannonball
https://x.com/UFDTech/status/1711488218636357818?s=20

Scramble - October 7, 2023

Have you read the Syngap Story on Julie yet?

52 Days until the Conference - Sign up by Halloween - We need head counts.

Registration & Hotels

Conference and Wild Type Shirts:

Share your time and blood too!
Sign up for ciitizen! Sign up for CHOP! Volunteer!

Give us 5 stars everywhere. Like Apple podcasts!

This is a podcast subscribe!

Episode 119 of #Syngap10 - October 9, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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SyngapCensus

https://www.syngapresearchfund.org/post/syngapcensus-2023-update-59-in-q3-2023-total-1-297

UFDCure Cannonball - October 4-6

https://www.syngapresearchfund.org/cannonball

Effie on CBall https://effieparks.com/podcast/effisode-074-syngap-cannonball-for-a-cure

Pre-party https://x.com/UFDTech/status/1709366677261987862

Scramble - October 7, 2023

Stories https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-019

Site

https://www.syngapresearchfund.org/families/scramble-for-syngap-syngap-research-fund

PRAX-222 & ciitizen

Marcio https://youtu.be/ibgINIFPFRk?si=Rtxe3rlTUWdMYGvg

Pressers

9/20 https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html

10/2 https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-portfolio-update-2023-rd-day

mustread

Essay by Jennifer: https://effieparks.com/blog/2023/9/30/sometimes-there-is-no-silver-lining

Book: https://www.amazon.com/Self-Compassion-Proven-Power-Being-Yourself/dp/0061733520/

Wild Type Campaign

https://www.bonfire.com/wild-type-syngap1-1/

Conference - Sign up by Halloween - We need head counts.

Registration link: https://Syngap.Fund/Orlando

Hotels: https://Syngap.Fund/2023hotel

Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/

Share your time and blood too!
Sign up for ciitizen!
Sign up for CHOP!

Volunteer!

Give us 5 stars everywhere. Like Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here- https://www.syngapresearchfund.org/syngap10-podcast

Episode 118 of #Syngap10 - October 3, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Self-Compassion: The Proven Power of Being Kind to Yourself

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CALLS TO ACTION

Plan on Rare on the Hill - Week of February 25th in DC
Watch #S10e96 https://www.youtube.com/watch?v=MkCKK4Z7J2I
Timeline https://everylifefoundation.org/rare-advocates/rare-disease-week-2023/rare-disease-week-agenda-2024/
Apply for support https://www.surveymonkey.com/r/CJPHMS9
Take this survey
1. Survey https://unmcmmi.co1.qualtrics.com/jfe/form/SV_bxObDOAeWxesIBM
2. Tweet https://x.com/PedsGCAbby/status/1706446478904811750

Great papers

Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders

https://x.com/cureSYNGAP1/status/1706770818703953955

Context-dependent hyperactivity in syngap1a and syngap1b #zebrafish #autism models

https://x.com/cureSYNGAP1/status/1706772916543893597

Sensorimotor Integration Supporting Perception Requires Syngap1 Expression in Cortex

https://x.com/cureSYNGAP1/status/1707475941348540894?s=20

We’re at 248 before the BioRxiv

https://x.com/cureSYNGAP1/status/1707516877558501652?s=20

Watch the Epic Stanfield Webinar - Behaviour, Cognition and Sensory Processing in People with SYNGAP1

https://www.syngapresearchfund.org/webinars/82-behaviour-cognition-and-sensory-processing-in-people-with-syngap1

10/26 12PM ET Bryan Dickinson, PhD Webinar on Oligos that target translation to restore SYNGAP1 levels

https://www.syngapresearchfund.org/webinars/83-oligos-that-target-translation-to-restore-syngap1-levels

ILAE Interview on MAD https://www.ilae.org/journals/epigraph/epigraph-vol-25-issue-3-summer-2023/research-recap-modified-atkins-diet-and-health-related-quality-of-life-dr-magnhild-kverneland

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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Congrats to…
- Allan Blake on his airborne fundraiser for SRF UK
- Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes)
- Beacon on their FDA approval on the Sleep Headband Dream 3S
- Soiree 8/26 - $300K net raised by Suzanne

Katrien on the ILAE #SYNGAP10 #S10e115

Webinar coming up:

Behaviour, Cognition and Sensory Processing in People with SYNGAP1

Sept 28 @ 9am PT/ 5pm GMT

Still a classic: Mike to FDA on SYNGAP1 For ORCA https://www.youtube.com/watch?v=AObE7NhSlmg&t=447s

Events to mention in SYNGAP10

Global Genes, DEI - 9/18 - 9/23 - Vicky and Mike
2nd Scientific Conference in Spanish (virtual) 9/23
Cannonball 10/4-10/6; Brett, Peter, Monica & Reece listen to Stories Episode 12 MH!
Scramble 10/7 Julie Miles https://syngap.fund/scramble
Park City Epilepsy Mtg 10/15 - 10/17; Mike, JR
Gala 10/21 Nancy Kessler https://syngap.fund/CLG3
Conference 11/30 & 12/1 + Sea World or Disney 12/2

Conference - Sign up by Halloween - We need head counts.

Registration link: https://Syngap.Fund/Orlando
Hotels: https://Syngap.Fund/2023hotel
Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/

Share your time and blood too!
- Sign up for ciitizen!
- Sign up for CHOP!

Volunteer!

Donate to the biorepository in OH or IL:
- Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)

Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 116 of #Syngap10 - September 18, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up)

Katrien: https://www.syngapresearchfund.org/team/katrien-deckers-chairperson

Dr. Eschermann's Slides https://www.patre.info/2023/09/04/presentation-at-iec-2023/

EURAS Project Press Release https://euras-project.eu/

Hotels ASAP: https://Syngap.Fund/2023hotel
Merch https://www.bonfire.com/srf-syngap1-conference-2023/

Volunteer with SRF!

https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10
- https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:
- https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 115 of #Syngap10 - September 17, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt.
Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83

Pods - Review! Five stars!
- Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
- S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687
Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525

CHOP - Sign up! https://drive.google.com/file/d/1eCVGmQ5b3RfL0ZiMpjoWIgVpFaSfEVOh/view?usp=drivesdk

ILAE Dublin was a great success -
- Ana’s Tweet: https://twitter.com/CNSdrughunter/status/1699754342125847023
- Ana’s Webinar: https://www.syngapresearchfund.org/webinars/treatments-in-development-for-epilepsy-syndromes-opportunities-for-syngap1

Warriors - Sign up - https://www.syngapresearchfund.org/syngap-warrior/addison

Conference - Sign up by Halloween - We need head counts.

Registration link: https://Syngap.Fund/Orlando
Hotels ASAP: https://Syngap.Fund/2023hotel
Shirts https://www.bonfire.com/srf-syngap1-conference-2023/

Presentations

Pharma - To follow https://syngap.fund/23
UCB-Digital Health - Agenda - https://med.stanford.edu/ucbcollaborative/events/2023-digital-health-symposium.html#agenda
Sign up for Ciitizen. https://www.ciitizen.com/SYNGAP1/SRF/
It matters, this data is bringing data to companies & making SYNGAP1 more attractive. SHARE YOUR DATA.
If you have issues, email Virginie and Mequel.

CANNONBALL 3 is coming! October 4-6. Takeover coming soon.
- Monica is going on the road! https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012

Share your time and blood too!
Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund

Donate to the biorepository in OH or IL:
- Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)

Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 114 of #Syngap10 - September 10, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

View Details

Super Heroine: Vicky Arteaga

Fondo Syngap is tireless:

2 Congreso en Español on September 23, 2023

https://www.syngapresearchfund.org/professionals/2023-en-espanol

Spanish Podcast #CafeSyngap1e01

YouTube https://www.youtube.com/watch?v=dh0lPuLLUFg
Google https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9lNjAyMDgwMC9wb2RjYXN0L3Jzcw
Spotify https://spotify.link/MJZZVMoKGCb
Amazon Music https://music.amazon.com/podcasts/6e65b878-4506-4882-b6cd-1ea873c0ba7e/caf%C3%A9-syngap1

FondoSYNGAP

SRF is at ILAE

Let’s thank Katrien Deckers & Olga for representing SRF at ILAE in Dublin Sep 2nd - 6
Vicky on one of the panels on Saturday called: Clinical diagnostic challenges in the genetic epilepsies and opportunities for precision treatment

Super Heroine: Ashley Frye with Suzanne Jones and Samar Katnani

SyngapStories #KETO #MAD

Samar Interview https://twitter.com/cureSYNGAP1/status/1693987401952342442?s=20
Keto works, remember this old gem? https://www.syngapresearchfund.org/post/ketogenic-diet

Where have I been all week?

Syngap Stories about Tony https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-016

Soiree was AMAZING
- Tweet https://twitter.com/curesyngap1/status/1696595956467183904
- Ashley’s Speech https://www.youtube.com/watch?v=qw2mG3wTjfc

Super Heroine: Sydney Stelmazek

CHOP Update
16 seen so far
27 signed up
QEEG is SYNGAP1 compatible https://twitter.com/phalliburton/status/1694845802336641315?s=20

CANNONBALL 3 is coming! October 4-6.

Super Heroine: Dr. Danielle Andrade

Huge thanks to Dr. Andrade for this paper on Adults with SYNGAP1 https://twitter.com/DrDaniAndrade/status/1694717693080092976?s=20

Proposals came in today, we need to raise money!
Finally, we have at least 6 grant proposals received! Donate and Fundraise! https://www.syngapresearchfund.org/donate/donate

Share you time and blood too!
Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund

Donate to the biorepository in OH or IL:
- Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)

Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611

CONFERENCE

Registration link: https://Syngap.Fund/Orlando

Hotels ASAP: https://Syngap.Fund/2023hotel

Shirts https://www.bonfire.com/srf-syngap1-conference-2023/

Volunteer with SRF! Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 113 of #Syngap10 - September 2, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

View Details

Congratulations to Dr. Knowles, read our press release.

https://www.syngapresearchfund.org/post/syngap-research-fund-srf-awards-130-000-grant-to-advance-research-on-maladaptive-myelination-syngap1-related-epilepsy

Check out the CSC Clinic at Stanford

https://www.syngapresearchfund.org/post/srf-announces-stanford-launches-california-synaptopathy-clinic-syngap1

Don’t miss #S10e111 to learn about Dr. Helbig

https://www.youtube.com/watch?v=i6EZUrqsn2g

In you are coming to or near SF, please go to the Willsey Lab and do the breathing test with your SYNGAPian

https://www.syngapresearchfund.org/post/very-easy-non-invasive-irb-approved-study-open-to-all-syngap1-patients-available-at-ucsf

Congratulations to Dr. Kadam for the SRF supported Case Study

Publication: https://www.frontiersin.org/articles/10.3389/fneur.2023.1221161/full

Tweet: https://twitter.com/cureSYNGAP1/status/1692227117126439099

Hotels ASAP: https://Syngap.Fund/2023hotel
Merch https://www.bonfire.com/srf-syngap1-conference-2023/

Volunteer with SRF!

https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 - https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 112 of #Syngap10 - August 18, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

View Details

*Note, we aware part of the video froze; that’s life!

RESEARCH!

Dr. Helbig gave a killer presentation today… at Stanford. It was so cool to see SYNGAP1 mentioned. “Deciphering the Epilepsy Phenome – Understanding Longitudinal disease trajectories and outcomes” it showed how much data you can get form EHRs, ciitizen and NHS. We need them all. Sign up for Ciitizen! https://www.ciitizen.com/SYNGAP1/
SRF Supported work out of Huganir’s Lab is on BioRx! https://www.biorxiv.org/content/10.1101/2023.08.06.552111v1.full.pdf
Grants due on 9/1, already seeing good stuff. https://www.syngapresearchfund.org/professionals/grants/how-to-apply

VOLUNTEER SITE IS UP

https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund

WEBINARS ARE A VALUABLE RESOURCE

https://www.syngapresearchfund.org/families/resources/all-webinars/webinars
Yesterday, Dr. Underbakk, Previously with Dr. Courtney

NPR ARTICLE INCLUDING JACKIE KANCIR - https://wpln.org/post/episodes/the-cost-of-care-for-disabilities-and-chronic-illness

SYNGAP STORIES Ashley Frye is killing it. Suzanne Jones just did an episode. The CHOP team listens, so do clinicians. Call Ashley and share your story.

COMPANY UPDATES

Stoke had great news - https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-reports-second-quarter-financial-results-2
Praxis also having good results - https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-9
Have not heard from RegEl or Ionis.

EVENTS

Getting ready for the Soiree - August 26th.
Cannonball set for October 4-6
SRF SYNGAP1 CONFERENCE
Register, book etc. https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund
Watch #s10e109 https://youtu.be/to8SAwdzCmg

BIOMARKERS NEED BIOSAMPLES AND EEGS

Combined Brain collections are great Dr. TJB met our very own Pavel this weekend! Plasma, plasma, plasma.
UCLA Study is moving forward for EEG collection. Contact Declan via study page.

Upcoming times and places to do biosamples, thanks you Corey we are at 18 Syngapians and 21 Siblings. KEEP GOING

GLUT1 Deficiency, August 26th, 9am-5pm (Embassy Suites, 13700 Conference Center Drive South, Noblesville, IN 46060)
IRF2BPL Foundation, Sept 22nd-23rd 2023 (Home 2 Suites by Hilton, 7145 Liberty Centre Drive, Liberty Township, OH 45069, 513-644-2207)
KCNQ2 Cure Alliance Conference, Sept 29th-30th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611)
NARS1 Conference, October 1st, 9am-5pm (13550 Commerce Blvd Rogers, MN 55374)
Prader-Willi Syndrome/USP7 Foundation, October 5-7 (1672 Lawrence St, Denver, CO 80202)
TBRS Community, Oct 12th-14th 2023 (Morgan’s Wonderland, 5223 David Edwards Dr, San Antonio, TX 78233)
COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)
FAM177A1, Oct 29th 2023, 9am-5pm (2737 77th Ave Se Suite 101 Mercer Island, WA 98040)
ADNP Syndrome, Oct 30th-Nov 1st 2023 (Los Angeles, CA)
SYNGAP1 Research Fund, Dec 1st-3rd 2023 (8978 International Drive Orlando, FL, 32819)

—---

CONFERENCE

Registration link: https://Syngap.Fund/Orlando

Hotels ASAP: https://Syngap.Fund/2023hotel

Shirts https://www.bonfire.com/srf-syngap1-conference-2023/

Volunteer with SRF! Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 111 of #Syngap10 - August 12, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

View Details

Adam's Camp: Get on the mailing list! https://adamscamp.org/

Tony’s Slides! https://docs.google.com/presentation/d/1RVJekxVN6Bemx78Boy7FRbUrtHKAVE0bBzRBlIpyEeA/edit?usp=sharing

Compression Clothing https://calmcare.com/

Come to the conference https://www.youtube.com/watch?v=to8SAwdzCmg

—

CONFERENCE

Registration link: https://Syngap.Fund/Orlando

Hotels ASAP: https://Syngap.Fund/2023hotel

Shirts https://www.bonfire.com/srf-syngap1-conference-2023/

Volunteer with SRF! Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 108 of #Syngap10 - July 13, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

View Details

Guest Hosts: Ashley Frye & Lauren Perry

THE BASICS

Who: Everyone! Families (including extended), caregivers, scientists, industry reps.

What: SRF’s 2nd Annual SYNGAP1 Conference.

Registration link: Syngap.Fund/2023ConfReg

Where: Orlando, FLORIDA! Embassy Suites by Hilton Orlando International Drive Convention Center.

Room block: https://Syngap.Fund/2023hotel

When: Thursday, November 30th and Friday, December 1st, 2023. *Sea World outing is the Saturday following the conference. More to come on that.

Why: Once in a year opportunity to be in the same room with multiple Syngap families from not only around the US but around the world!

T-SHIRTS: https://www.bonfire.com/srf-syngap1-conference-2023/

—

Volunteer with SRF! Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 109 of #Syngap10 - July 20, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

View Details

Happy 5th Birthday SRF! https://mailchi.mp/syngapresearchfund.org/happy-5th-birthday-srf

FASTERCURES

See #S10e98 https://www.youtube.com/watch?v=iOLjUdVUtqo

https://milkeninstitute.org/centers/fastercures/building-nonprofit-capacity/train

Census https://Syngap.fund/census - 1,238

CHOP

McKee Grant via AES https://twitter.com/jillianlmckee/status/1674037974684647424?s=46&t=8Y3-Ue9XY-QOTy42vH52Fw

NHS Blog - https://www.syngapresearchfund.org/post/natural-history-study-at-childrens-hospital-of-philadelphia-is-a-natural-win-for-srf

What to expect - https://www.syngapresearchfund.org/post/what-to-expect-when-youre-preparing-to-visit-the-syngap1-natural-history-study

Their reflections: http://epilepsygenetics.net/2023/07/11/stxbp1-and-syngap1-natural-history-reflections-after-day-1-of-endd-clinic/

STUDIES

See #S10e107 for four opportunities, https://www.youtube.com/watch?v=boHYLi3S-Mk

But also: UCLA - EEG - West Coast!

Missense, let’s make cell lines… watch this: https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations/

PODCASTS

Brain and Life 1 and 2

https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with

Part 1 - English - https://www.brainandlife.org/podcast/community-stories-navigating-rare-epilepsy-diagnosis

Part 2 - Spanish - https://www.brainandlife.org/podcast/comunidad-sobre-como-afrontar-diagnostico-epilepsia-genetica

Podcasts - Syngap1 Stories - Ashley Evans (11) and Monica Harding (12)

Ashley - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-011

Monica - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012

CONFERENCE

Pre-registration link: https://Syngap.Fund/2023conf

Hotels ASAP: https://Syngap.Fund/2023hotel

Merch https://www.bonfire.com/srf-syngap1-conference-2023/

All this was in today’s newsletter! https://Syngap.Fund/News33

Ed is doing a great job with these, thank you Ed!

Volunteer with SRF! Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 108 of #Syngap10 - July 13, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

View Details

Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107

RECENT EVENTS

MDBR Blog https://www.syngapresearchfund.org/post/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration

Paddle Slap video https://www.youtube.com/watch?v=F9SaHPzd5bU

Paddle Slap blog https://www.syngapresearchfund.org/post/syngap-paddle-slap-is-a-thing

Family Video and Fundraiser:

Shaeffer Video https://www.youtube.com/watch?v=Z_dI059yPeM

Shaeffer Fundraiser https://secure.givelively.org/donate/syngap-research-fund-incorporated/support-srf-for-story-s-19th-birthday

SRF in the World:

SRF in Mexico - Our Voice is Getting Louder blog Syngap.Fund/Voice

SRF in Poland - https://twitter.com/beatasyngap1/status/1664996361585197057?s=20

STUDIES

ENDD S1 NHS - Email ENDD@chop.edu to sign up and please cc mike@curesyngap1.org, lauren@curesyngap1.org & sydney@curesyngap1.org - https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view#

CHOP NHS ENDD Blog: https://Syngap.Fund/CHOPNHS

CORNELL

English https://redcap.link/syngapcaregiversurvey

Spanish https://redcap.ctsc.weill.cornell.edu/redcap_protocols/surveys/?s=MWTW743PHENPPRPY

COMBINEDBrain Biorepository

https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1

STXBP1 Foundation, (July 21st-23rd 2023; 10600 Westminster Blvd, Westminster, CO 80020)
Yellow Brick Road Project, (July 30th-August 2nd (Ponte Vedra Lodge & Club, 607 Ponte Vedra Blvd, Ponte Vedra Beach, FL, 32082)

CINEMAS STUDY - Mild Intellectual Delay

https://cinemasstudy.com/#right_for_me

PRESS

Axios Fruit Flies article https://www.axios.com/local/salt-lake-city/2023/06/09/fruit-fly-medical-research-university-utah

FUTURE EVENTS

June 21 - Splash for Syngap https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap

August 26 - Syngap Soiree https://e.givesmart.com/events/wiH

October 7 - Scramble for Syngap https://secure.givelively.org/event/syngap-research-fund-incorporated/scramble-for-syngap-2023

October 21 - SynGAP Research Fund Gala Honoring Caren Leib - https://e.givesmart.com/events/wBy/

October 30-31 - Epilepsy Awareness Day at Disneyland https://epilepsyawarenessday.org/lobby-page/

Nov 30-Dec 1 - SYNGAP1 Conference 2023 hosted by SynGAP Research Fund https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund

Conference pre-registration link: Syngap.Fund/2023conf

Book hotels ASAP: https://Syngap.Fund/2023hotel

T-shirts https://www.bonfire.com/srf-syngap1-conference-2023/

WEBINARS

Upcoming: June 15 - Quantifying perturbed SYNGAP1 Function Caused by Coding Mutations - Dr. Michael Courtney from Turku in Finland https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations

Previous: Therapeutic Strategies for Autism: Targeting Three Levels of the Central Dogma of Molecular Biology - Presented to the SYNGAP1 Community - Lilia Iakoucheva & Derek Hong https://www.syngapresearchfund.org/webinars/78-therapeutic-strategies-for-autism-targeting[…]tral-dogma-of-molecular-biology-with-a-focus-on-syngap1

PODCAST

Syngap Stories, interviews, see #10 with Dani Williams https://www.syngapresearchfund.org/podcast-episodes/episode-010

Volunteer with SRF! Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 107 of #Syngap10 - June 14, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

View Details

Blane & Ashley Dallen & Melissa Oakley in Canada just raised over $10k together with two events.

SynGAP Paddle Slap *this woman knows how to run a successful fundraising event with very low overhead!

Stats: They had 12 teams play in the tournament. About 120 people joined the crawfish boil. Actual $ breakdown: Total Actual Income $23,250.00.

Article https://www.localmemphis.com/article/life/family/rare-disease-research-promoted-integra[…]1-austim-epilepsy/522-b805046b-d05e-4f17-a8ab-69421293f926

Minnie's article in the Chicago Tribune. (behind firewall) https://www.chicagotribune.com/people/health/ct-hayden-cheng-syngap-diagnosis-0525-20230527-zacxfmtrhbd4bm5gbc3su5hsr4-story.html

Vicky & Paulina in Chihuahua, Mexico at Sociedad Mexicana de Neurología Pediátrica's annual conference https://twitter.com/cureSYNGAP1/status/1659250923611496449

Two blogs en Español

https://www.syngapresearchfund.org/post/vacacionar-con-un-syngap1-147

https://www.syngapresearchfund.org/post/notas-de-terliz-mama-syngap1-145

STUDIES

ENDD S1 NHS - Email ENDD@chop.edu to sign up and please cc mike@curesyngap1.org, lauren@curesyngap1.org & sydney@curesyngap1.org https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view#

Watch #S10e105 https://www.youtube.com/watch?v=qy5YrPIlH0I

Cornell study

English https://redcap.link/syngapcaregiversurvey

Spanish https://redcap.ctsc.weill.cornell.edu/redcap_protocols/surveys/?s=MWTW743PHENPPRPY

COMBINEDBrain Biorepository - https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1

SCIENCE

1st Syngap Patient Derived Models from SRF grant to Dr. Araki & Dr. Huganir https://www.biorxiv.org/content/10.1101/2023.05.25.542312v2

"Eye of the Fly" Chow article - https://www.ksl.com/article/50638506/eye-of-the-fly-how-fruit-flies-could-help-find-treatment-for-a-rare-genetic-disease

EVENTS

June 10 - MDBR https://charity.pledgeit.org/t/Optdm6sOX9

June 21 - Splash for Syngap https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap

August 26 - Syngap Soiree https://e.givesmart.com/events/wiH

October 7 - Scramble for Syngap https://secure.givelively.org/event/syngap-research-fund-incorporated/scramble-for-syngap-2023

October 21 - SynGAP Research Fund Gala Honoring Caren Leib - https://e.givesmart.com/events/wBy/

CONFERENCE

Nov 30-Dec 1 - SYNGAP1 Conference 2023 hosted by SynGAP Research Fund https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund

Conference pre-registration link: https://Syngap.Fund/2023conf

Book hotels ASAP: https://Syngap.Fund/2023hotel Tshirts: https://www.bonfire.com/srf-syngap1-conference-2023/

WEBINARS

June 8 - Therapeutic strategies for autism: Targeting Three levels of the central dogma of molecular biology - Dr. Lilia Iakoucheva & Mr. Derek Hong https://www.syngapresearchfund.org/webinars/78-therapeutic-strategies-for-autism-targeting[…]tral-dogma-of-molecular-biology-with-a-focus-on-syngap1

June 15 - Quantifying perturbed SYNGAP1 Function Caused by Coding Mutations - Dr. Michael Courtney from Turku in Finland https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations

Recently - Dr. Baptiste Lacoste - Involvement of the brain endothelium in neurodevelopmental disorders https://www.syngapresearchfund.org/webinars/76-involvement-of-the-brain-endothelium-in-neurodevelopmental-disorders-syngap1

PODS

Syngap Stories, interviews, see #8 with Heather Bensch https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-008
Syngap Stories, interviews, see #9 with Lauren Perry https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-009

Volunteer with SRF! Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 106 of #Syngap10 - June 6, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org

This is the ENDD of excuses. Sign up for the CHOP ENDD Study.

There is so much work to do, volunteer Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 105 of #Syngap10 - May 19, 2023

biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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Long trip, but first…

Last Episode (#S10e103 https://www.youtube.com/watch?v=Tpz-8Uf6qcU) special thanks to Lauren Perry for doing this and for the detailed review. We missed on fabulous family also had an event
$243,794 of $250,000, 849 Donors

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Grand Total: $241,359 – Incredible! Congratulations to all the teams.

In-Person Events:

Team Tavilla raised $162,464…and counting

Hope for Hadley raised $10,059… and counting

Team Syngap America Latina raised over $2,000

Canada - Team Mya raised over $2800 & Team Chase raised over $2300

Team Andrew raised over $3,200

Team Emma Mae raised over $3,000

Team Kai raised over $2,600

Team Gracyn raised $1,864

Team Naya raised $1,795

Team Patrick raised $1,240

Kilometers4Kai raised $952

March4McKaela raised $550

Online Fundraisers:

Phoebe’s fight’s total is $32,269

Team Rocco 10,698

Team Fallyn total 1402

Team Saydee total 1123

Sprinting for Laila up in Canada raised $1029

Misko’s family in the Czech Republic is at $850

Team Teddy raised $600

Hope for Reef raised $553

Team Lizzy at $100

Rifton Giveaway

Congrats to Andrew who won the customize Rifton bike!

Sprint4Syngap 2024

Saturday, April 27

There is so much work to do, volunteer Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 103 of #Syngap10 - May 3, 2023 #Sprint4Syngap

fundraising #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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Webinars

McKEE 4/27 https://syngap.fund/mckee
- Ciitizen SYNGAP1 count is over 212

Sign-UP https://ciitizen.com/syngap1
Sign-IN & Update https://app.ciitizen.com/

SMITH 5/11 https://syngap.fund/smith
LACOSTE 5/18 https://syngap.fund/lacoste

Sprint4Syngap - 4 days, April 29, 2023

$210k, 652 donors.
https://syngap.fund/sprint
Fundraising page: https://syngap.fund/sprint23

What’s your neuro emergency plan?
https://twitter.com/cureSYNGAP1/status/1646170843503034368

Caregiver Connect from DSF

Video modules are broken down into four important topics: Taking Care of the Caregiver; Caregiver Burnout; Communicating Emotions, Needs & Concerns; and Managing Grief. Each module offers multiple videos that you can watch on demand, as your schedule allows, as well as a coordinating tip sheet. If this resource would be useful to you or your community, you can find it at:
- https://dravetfoundation.org/caregiver-resources/caregiver-connect/

aka https://syngap.fund/dsfcc

Rare News Updates

PGx, just do it.
1. https://www.nature.com/articles/s41397-020-00181-w
2. Invitae
Killer paper overview on therapy types
1. https://www.spectrumnews.org/opinion/q-and-a/the-future-of-autism-therapies-a-conversation-with-lilia-iakoucheva-and-derek-hong/
2. https://www.nature.com/articles/s41398-023-02356-y

MDBRSRF - 46 days - June 10, 2023

syngap.fund/mdbr23

SyngapConf - 219 days - book now, November 30, 2023

Conf pre-registration link: Syngap.Fund/2023conf
Book hotels ASAP: https://syngap.fund/2023hotel

Remember the Biorepository Roadshow - https://syngap.fund/roadshow

List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB

MED13L Foundation on April 30th, 2023 (Philadelphia, PA)
DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD)
KDVS Foundation, July 19th-21st 2023 (Orlando, FL)
STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO)
Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL)
(Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN)
(Potential) KAND, August 3rd-6th 2023 (Queens, NY)
(Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA)
IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH)
USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO)
TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX)
COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)
ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA)
(Potential) Angelman Foundation, November 2023 (Orlando, FL)
SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL)

There is so much work to do, volunteer Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 102 of #Syngap10 - April 25, 2023 #DNAday

biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101

What’s your neuro emergency plan?
https://twitter.com/cureSYNGAP1/status/1646170843503034368

Congrats to Dr. Frazier on the FIRST NET paper: https://twitter.com/cureSYNGAP1/status/1646573476353044481

Thanks to Kevin for going to Gatlinburg
- Kevin https://twitter.com/cureSYNGAP1/status/1646530060227346433
- ORCA https://twitter.com/cureSYNGAP1/status/1646212570649604097

Thanks to Brain & Life, part of AAN for this article "How Parents Advocate for Their Children with Rare Diseases” https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with

Sibling day
John https://youtu.be/J5oBo9zcRUE

LGS https://www.youtube.com/watch?v=kR1nWSEZPfY

Webinars

McKEE 4/27 https://syngap.fund/mckee

SMITH 5/11 https://syngap.fund/smith

Ciitizen SYNGAP1 count is over 2101

Sign-UP https://ciitizen.com/syngap1
Sign-IN & Update https://app.ciitizen.com/

Rare News Updates

Hot off Presses, Stoke is talking about TANGO and mentions their SYNGAP1 work with Acadia https://knowablemagazine.org/article/health-disease/2023/hope-for-haploinsufficiency-diseases
SCN2A Clinical Trial Site and Video, which is very good!
https://www.youtube.com/watch?v=z9SqMSO405I
https://scn2aclinicaltrials.com/
Frog update: See what Dr. Helen Willsey is doing here: https://youtu.be/Gp8sROAm5D8

Sprint4Syngap - 14 days, April 29, 2023

https://syngap.fund/sprint
Fundraising page: https://syngap.fund/sprint23

MDBRSRF - 56 days - June 10, 2023

syngap.fund/mdbr23

SyngapConf - 229 days - book now, November 30, 2023

Conf pre-registration link: Syngap.Fund/2023conf
Book hotels ASAP: https://syngap.fund/2023hotel

Remember the todos in #S10e100 - https://www.youtube.com/watch?v=CCjPkabkR1A

Education survey https://forms.gle/YZJZmJavMNKNEBg88
Biorepository Roadshow - https://syngap.fund/roadshow

List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB

MED13L Foundation on April 30th, 2023 (Philadelphia, PA)
DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD)
KDVS Foundation, July 19th-21st 2023 (Orlando, FL)
STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO)
Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL)
(Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN)
(Potential) KAND, August 3rd-6th 2023 (Queens, NY)
(Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA)
IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH)
USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO)
TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX)
COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)
ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA)
(Potential) Angelman Foundation, November 2023 (Orlando, FL)
SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL)

There is so much work to do, volunteer Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 101 of #Syngap10 - April 15, 2023

frogs #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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How is the podcast doing?

Episode 1 - 93 in ciitizen, 750 patients, on our first Sprint… https://youtu.be/aGDEc8Uwy-k
Episode 100 - 212 in ciitizen, 1,215 patients, on our 3rd Sprint!

What you can do this week?

Take the education survey https://forms.gle/YZJZmJavMNKNEBg88 and consider joining our advocacy group.
Tell me if you have any GI biopsies planned.
Plan your travel
Biorepository Roadshow - See end of shownotes or https://docs.google.com/presentation/d/1Ps3n6f62yQ9lMEsON-vbgvyOKiO8TohawZcUByxVg8g/edit?usp=sharing
Annual Conference - Preregister Syngap.Fund/2023conf

Any great press?

Polancos on TV https://twitter.com/cureSYNGAP1/status/1643967039214850048
Fosters in the KC Star https://twitter.com/cureSYNGAP1/status/1643357789966704643
Axonis/Tang Grant https://twitter.com/cureSYNGAP1/status/1643602756375298048

Rare News Updates

ONCE UPON A GENE - EPISODE 181 - Helping Undiagnosed Patients Who Experience Symptoms of Rare Disease Lukas Lange is the CEO and Founder of Probably Genetic. https://twitter.com/OnceUponAGene/status/1644079452211798016
Angelman Training for ASOs - https://twitter.com/cureSYNGAP1/status/1643768256468238336

Sprint4Syngap - 21 days, April 29, 2023

https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund
Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023

MDBRSRF - 63 days - June 10, 2023

syngap.fund/mdbr23

SyngapConf - 236 days - book now, November 30, 2023

Conf pre-registration link: Syngap.Fund/2023conf
We have signed with a hotel/venue, please stay tuned for room link
Large Latin Contingent too, just another this morning.

List of biorepository collection opportunities, watch this webinar for more information https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1

MED13L Foundation on April 30th, 2023 (Philadelphia, PA)
DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD)
KDVS Foundation, July 19th-21st 2023 (Orlando, FL)
STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO)
Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL)
(Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN)
(Potential) KAND, August 3rd-6th 2023 (Queens, NY)
(Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA)
IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH)
USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO)
TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX)
COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)
ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA)
(Potential) Angelman Foundation, November 2023 (Orlando, FL)
SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL)
SLC6A1 Connect, Dec 1st-3rd 2023 (Orlando, FL)

There is so much work to do, volunteer Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 100 of #Syngap10 - April 8, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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Watch the COMBINEDBrain / TJB Webinar!

https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1

Frogs are cool

https://www.spectrumnews.org/news/profiles/how-helen-willsey-broke-new-ground-frogs-in-hand/
See Figure 2D https://pubmed.ncbi.nlm.nih.gov/33497602/

SYNGAPcensus is at 1,251

https://www.syngapresearchfund.org/post/142-syngapcensus-2023-update-51-in-q1-2023

SYNGAP is HOT

https://www.youtube.com/watch?v=X4iDyHc4xUA

Sprint4Syngap - 28 days, April 29, 2023

https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund
Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023

MDBRSRF - 70 days - June 10, 2023

syngap.fund/mdbr23

SyngapConf - 243 days - book now, November 30, 2023

Conf pre-registration link: Syngap.Fund/2023conf
We have signed with a hotel/venue, please stay tuned for room link
Large Latin Contingent too, just another this morning.

There is so much work to do, volunteer Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 99 of #Syngap10 - April 1, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat.

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Milken Fastercures RPMM

So much strong work and thinking here!

https://milkeninstitute.org/centers/fastercures/train/toolkits/RPMM

Three floors: Start by doing what's necessary; then do what's possible; and suddenly you are doing the impossible. - St. Francis of Assisi
Cool Tweet: https://twitter.com/LindsayOkamoto/status/1639017493007335425?s=20

Why we need a house?

www.fpwr.org - www.jdrf.org - www.runx1-fpd.org

Press is key! Congrats to Peggy

https://www.newsandtribune.com/news/clark_county/floyd-family-seeks-to-lessen-funding-gap-for-rare-genetic-disorder/article_d16460f4-c8f8-11ed-a60c-170e5bfff4d6.html

Amazing Webinars

Jillian McKee - April 27th - https://syngap.fund/mckee

Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records

Sign-UP https://ciitizen.com/syngap1
Sign-IN https://app.ciitizen.com/

Sprint4Syngap - 36 days, April 29, 2023

https://syngap.fund/sprint
Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023

MDBRSRF - 79 days - June 10, 2023

syngap.fund/mdbr23

SyngapConf - 252 days - book now, November 30, 2023

Conf pre-registration link: Syngap.Fund/2023conf
We have signed with a hotel/venue, please stay tuned for room link
Large Latin Contingent too, just another this morning.

There is so much work to do, volunteer Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 98 of #Syngap10 - March 23, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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Community with families

Amazing time with the Hardings, thank you. https://www.facebook.com/monica.cruzharding/posts/pfbid02WPzjhp3jSMtetB2vHCvMDtyUzqFD2SdP6Ebi68XF8TZdqhvJoqMywVWASp4x8mVUl
Hattie and Tony at the pool with the Fosters
Foster movie link on website: https://www.syngapresearchfund.org/patient-stories/hattie/
Foster press - 3/13/23 - KMBC News: https://www.kmbc.com/article/we-re-so-hopeful-local-girl-fighting-rare-disease/43279999/
2/28/23 - Fox4KC https://fox4kc.com/news/kansas-city-area-family-helping-spread-awareness-after-daughters-rare-disease/
Throw them in occasionally.

Talking to 2 year olds

LA, NorCal, DC, NY - https://www.syngapresearchfund.org/post/140-my-reema-syngap1
You are fortunate to know.
Your future will be different and we have written that story, see McKee and Brimble
https://twitter.com/JillianLMcKee/status/1600202742269501442
https://twitter.com/cureSYNGAP1/status/1636177159059574784
We chose between Love and Fear, Hope and Despair https://www.demellospirituality.com/love-or-fear/
Choose hope, love you kiddo by joining SRF and working with us for a better future.

Amazing Webinars

From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development
Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1
Jillian McKee - April 27th - https://syngap.fund/mckee

Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records

Sign-UP https://ciitizen.com/syngap1
Sign-IN https://app.ciitizen.com/

Stoke and Praxis Updates

Stoke got permission to up the dose in the US, good news for patients and a sign that the FDA comes around. https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-fda-will-allow-administration
Praxis had good news on ET and will go to Phase 3, which is good, if you remember what happened with their last drug. https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-announces-topline-results-essential1
See Next 2023 from Global Genes, industry updates start on page 50 https://20173539.fs1.hubspotusercontent-na1.net/hubfs/20173539/2023%20NEXT%20Report.pdf

Sprint4Syngap

https://syngap.fund/sprint
Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023

There is so much work to do, volunteer Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 96 of #Syngap10 - March 6, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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RD Advocacy with Everylife Foundation was Epic.

https://everylifefoundation.org/rare-advocates/rare-disease-week/
Join us next year! Be in cool pictures like this
https://twitter.com/rareadvocates/status/1631421473842667520
https://twitter.com/RareAdvocates/status/1631038634936741890
Here were our asks:
https://everylifefoundation.org/wp-content/uploads/2023/02/ELF-FY24-Appropriations_One-Pager.pdf
https://everylifefoundation.org/wp-content/uploads/2023/02/BENEFIT-Act_One-Pager_Feb-2023.pdf
https://everylifefoundation.org/wp-content/uploads/2023/02/Rare-Disease-Caucus-One-Pager_2_22_23.pdf
https://everylifefoundation.org/wp-content/uploads/2023/03/Ask4.pdf

Sprint4Syngap

https://syngap.fund/sprint
Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
18 Teams! Fourteen are already raising funds: Team Tavilla, Phoebe, Rocco, Emma Mae, Teddy, Reef, Gracyn, Andrew, Naya, Hope4Hadley, Kai, Saydee, Lizzy, Allison, Patrick.
Remember, there is an adaptive bike in play!
New family has an event to go to… COMMUNITY

Amazing Webinars

From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development
Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1
Jillian McKee - April 27th - https://syngap.fund/mckee

Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records

Sign-UP https://ciitizen.com/syngap1
Sign-IN https://app.ciitizen.com/

Listen to #S10e95

There is so much work to do, volunteer Info@SyngapResearchFund.org [

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 96 of #Syngap10 - March 6, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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Rare Disease Day 2023 - Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95

It’s RARE DISEASE DAY! Hattie has a new video!

https://www.syngapresearchfund.org/families/movies

I’m off to DC for NIH Day and RD Advocacy with Everylife Foundation

https://ncats.nih.gov/news/events/rdd
https://everylifefoundation.org/rare-advocates/rare-disease-week/

We have a $20k match!

https://syngap.fund/rdd23
https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023

Deadline for Grants is 3/1

https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st

Sprint4Syngap

https://syngap.fund/sprint23
Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
15 Teams! Eight already raising funds: Team Tavilla, Emma Mae, Reef, Kai, Naya, Hope4Hadley, Teddy & Lizzy. Seven more ready to go.
Remember, there is an adaptive bike in play!
New family has an event to go to… COMMUNITY

Amazing Webinars

Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1
Jillian McKee - April 27th - https://syngap.fund/mckee

Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records

Sign-UP https://ciitizen.com/syngap1
Sign-IN https://app.ciitizen.com/

iPSCs & Missense Mutations/Variants

https://syngap.fund/ipsc
https://www.syngapresearchfund.org/ips-cell-models
30 lines, 3 missense on the list, 1 more in Europe I know about
I urge you to raise for cell lines if you are a missense. $4k for a line, $7k for an isogenic control, $11k to make sure a mutation has a chance to be studied. 30% risk on the first line.

There is so much work to do, volunteer

Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 95 of #Syngap10 - February 28, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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We have a $20k match!

https://syngap.fund/rdd23
https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023

Sprint4Syngap

https://syngap.fund/sprint23
Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
13 Teams! Four already raising funds: Team Tavilla, Team Naya, Hope4Hadley, Team Lizzy. Nine more ready to go.
Bonfire Shirts: https://www.bonfire.com/sprint-for-syngap-2023/

Amazing Webinars

Brain Surgery - Done https://www.syngapresearchfund.org/webinars/69-syngap1-and-epilepsy-surgery-is-it-time-to-consider-a-different-toolbox
Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1
Jillian McKee - Date TDB - https://syngap.fund/mckee

Killer Blogs on Free Genetic Testing

Simons https://www.syngapresearchfund.org/post/136-support-simons-searchlight-2023-campaign-sign-up
How to get testing https://www.syngapresearchfund.org/post/137-how-to-get-free-genetic-testing-for-people-with-autism-special-needs-epilepsy
Why it matters https://www.syngapresearchfund.org/post/138-why-getting-a-genetic-diagnosis-matters-especially-for-syngap1
List of things to do this year! https://www.syngapresearchfund.org/post/139-srf-attended-advanced-therapies-week-in-miami-when-will-you-go-to-a-conference-for-syngap1

PRAX-222 Day!

https://twitter.com/cureSYNGAP1/status/1628189201232699393
https://clinicaltrials.gov/ct2/show/NCT05737784?term=seizures&cond=Epilepsy&sfpd_s=02%2F08%2F2023&sfpd_d=14&sel_rss=new14

Syngap Stories is on!

https://www.syngapresearchfund.org/syngap-stories

Ciitizen is over 200! Update your Ciitizen Records- Sign-IN https://app.ciitizen.com/

Sign-UP https://ciitizen.com/syngap1

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 94 of #Syngap10 - February 23, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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-Beacon - EEGs are critical for us. https://beacon.bio/

-Diagnosis: Heather

Survey: https://syngap.fund/maybe
Learn about this here: https://www.syngapresearchfund.org/post/probably-genetic-three-month-program-update - #CouldItBeSYNGAP1
https://sparkforautism.org/
s10e91 - https://www.youtube.com/watch?v=JBQNGKiYQEE
OUAG - Testing Poem - Roses are red, Violets are blueYou gave a diagnosis of #ASD, But that's not really true. https://twitter.com/onceuponagene/status/1623714824332128261

-Rare Disease Swarm - So many genes, moving so fast.

Tweet: https://twitter.com/JMGraglia/status/1625007454244462595?s=20&t=DptFQ_8zFEZSc-FmeG2R7w
Updated graphic: https://twitter.com/JMGraglia/status/1625013756714717184?s=20&t=DptFQ_8zFEZSc-FmeG2R7w
Hotels are cool, start planning for a great weekend in December in Florida now…
Short Link: https://syngap.fund/2023conf
Long link https://docs.google.com/forms/d/e/1FAIpQLSfetAr8YH41nbJrJy1uXqJeS37nQD6khjDn-LiFxIWo5oUBjA/viewform

-Grief: https://twitter.com/curesyngap1/status/1623934799009419265

ENDD Webinar hosted by STXBP1
Tweet: https://twitter.com/cureSYNGAP1/status/1624860304466415616
Youtube: https://www.youtube.com/watch?v=uOcMAO4oVSE
More links in Episode 92 #S10e92 https://www.youtube.com/watch?v=AYMx0SbQ1H8

Ciitizen is over 200! Update your Ciitizen Records- Sign-IN https://app.ciitizen.com/

Sign-UP https://ciitizen.com/syngap1

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 93 of #Syngap10 - February 12, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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Last week RegEl announced that their CNS Pipeline: Dravet, SCN2A & SYNGAP1
1. News https://twitter.com/cureSYNGAP1/status/1621293977579442177
2. Follow her https://twitter.com/navneetkmatharu
3. And him https://www.linkedin.com/in/jordane-dimidschstein-a1114852
Yesterday, Penn announced a $25m grant to the ENDD Program which is a dream team.
1. Announcement: https://twitter.com/curesyngap1/status/1623000399300153344?s=46&t=GQBKtxA44lny0qsvNyEkAw
2. Prosser Webinar: https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides
3. Heller Webinar: https://www.syngapresearchfund.org/webinars/dr-elizabeth-heller-phd-upenn-understanding-syngap1
Ingo updated his famous gene timeline chart and included SYNGAP1 - we are on the map https://twitter.com/ingohelbig/status/1615693871769321472?s=46&t=XfQ6xkKY7cQaFZnRTbaSNw
Praxis had an earnings call, and it looks like they will have a big year and enough cash to get to next year. https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-7
We have a new podcast! Yes, SRF was one of the first to create its own podcast and now we have two. https://www.syngapresearchfund.org/syngap-stories
Grants are due on March 1 and we already have a few! https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st
Rare Disease Day is end of month https://www.syngapresearchfund.org/post/133-what-is-rare-disease-day-why-is-it-the-last-day-in-february-syngap1
Three ways to raise money!
1. We have a match for all donations this month up to $20k, donate! https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023
2. Sprint for Syngap: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
3. MDBR: https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-million-dollar-bike-ride-mdbr-2023-for-syngap1
We have a clinical trials page. Check it out. https://www.syngapresearchfund.org/families/resources/clinical-trials
Many other signs of progress
1. RSRT Gene Therapy Announcement. https://twitter.com/cnsdrughunter/status/1617522729900707840?s=46&t=XW7hz9hgm6v3IAOPAmS_Kg
2. Rare Revolution Magazine on Siblings. https://rarerevolutionmagazine.com/rare-reports/
3. Poison Exon Dance from the Carvill Lab. https://www.youtube.com/watch?v=jV3Ne0nmmNU

Ciitizen is over 200! Update your Ciitizen Records- Sign-IN https://app.ciitizen.com/

Sign-UP https://ciitizen.com/syngap1

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 92 of #Syngap10 - February 8, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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Press is good! - Short link: https://syngap.fund/nw

Long link: https://www.newsweek.com/my-son-syngap1-rare-genetic-condition-1776362

Jo Ashline in Invitae: https://blog.invitae.com/finding-andrews-truth-a-family-s-unexpected-rare-disease-diagnosis-e21e97da6baf

Episode 90 was good, remember to listen, #S10e90 https://www.youtube.com/watch?v=Mp4jHg-GXjE

Ciitizen is over 200! Update your Ciitizen Records- Sign-IN https://app.ciitizen.com/

Sign-UP https://ciitizen.com/syngap1

Conference Videos are up from Science Day!

https://www.syngapresearchfund.org/post/2022-syngap1-conference-roundtable

Grant applications due March 1, 2023

https://www.syngapresearchfund.org/professionals/grants/how-to-apply

Priority Areas: - Biomarkers & Endpoints

VUS Resolution - Characterizing SYNGAP1 patients in the literature
SYNGAP1 Translational ScienceHelp Research with this brief survey. Tell a friend and share these links - 200 & counting, $50 each.
Short link: https://syngap.fund/UCSF_survey
Long link: fd91u8h6784.typeform.com/to/cvMzzG9z?utm_source=advocacy_org&utm_medium=email&utm_campaign=predictive_tool_survey&utm_term=syngap_research_fund

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 91 of #Syngap10 - January 31, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

View Details

Seven Ways to help:

Post a video with a seizure
Take a 10 minute survey
Tell us how you feel about Simons and Rare-X
Signup for or Update Ciitizen
Signup for or share a Wednesday Warrior
Buy JR’s book and give it to someone
Plan your fundraiser this year

Videos of kids with seizures. #SYNGAPseizure

biomarker

Help Research with this brief survey. Tell a friend and share these links - 150 & counting, $50 each.

Short link: https://syngap.fund/UCSF_survey
Long link: fd91u8h6784.typeform.com/to/cvMzzG9z?utm_source=advocacy_org&utm_medium=email&utm_campaign=predictive_tool_survey&utm_term=syngap_research_fund

Simons and Rare-X - What do you think?

https://syngap1.rare-x.org/
https://www.simonssearchlight.org/research/what-we-study/syngap1/

Update your Ciitizen Records- Sign-IN https://app.ciitizen.com/

Sign-UP https://ciitizen.com/syngap1

Another special Wednesday Warrior, please read - 17 year old

https://www.syngapresearchfund.org/syngap-warrior/eli-2
https://www.syngapresearchfund.org/get-involved/advocacy/share-your-story

JR WEBINAR - MORE OF EVERYTHING - BOOK

Recording Available - https://syngap.fund/jr- Buy the book: https://www.amazon.com/More-Everything-extreme-special-emotional-ebook/dp/B0BQ2C7HNL

Congrats to the Stromgaard Lab on a big award.

https://twitter.com/cureSYNGAP1/status/1614948835067068416?s=20&t=KxO5w7Fk9MuOvc6wHyUWUw

Thank you to Ingo for updating your graphic on genes

https://twitter.com/ingohelbig/status/1615693871769321472?s=46&t=XfQ6xkKY7cQaFZnRTbaSNw

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 90 of #Syngap10 - January 21, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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JR’s book, ORCA & RareX, Data talks, Update Ciitizen, Syndrome Management, ASOs for the Brain, Libby & Espy #S10e89

JR WEBINAR - MORE OF EVERYTHING - BOOK

Thursday January 17, 2023 - https://syngap.fund/jr - Direct link: https://us02web.zoom.us/webinar/register/WN_EMzPKDWiRluBMmslT0wpdA

ORCA Progress and Rare-X - Sign up now and if signed up, take the ORCA.

Login/Signup for Rare-X https://syngap1.rare-x.org/
Take the ORCA

Ingo’s CNS talk shows us what is possible with Ciitizen Data, other data. And how distinct SYNGAP1 is…

Thread https://twitter.com/JMGraglia/status/1612978647107002368
Distinct https://twitter.com/JMGraglia/status/1612978675053658113
SYBGAP1 Poster https://twitter.com/JillianLMcKee/status/1600202742269501442

Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/

Sign-UP https://ciitizen.com/syngap1

All about Syndrome Management, let’s get beyond seizures.

https://twitter.com/CNSdrughunter/status/1612863006148366356

PRAX-222 is number 3. So exciting. To see ASOs go into the Brain.

Stoke with #SCN1A
Ultragenyx with Angelman Syndrome
Praxis with #SCN2A via #PRAX222
Who will 4 be? Will it be #CDKL5? #STXBP1? SYNGAP1?

Very special Wednesday Warrior, please read - 19 year olds

https://twitter.com/cureSYNGAP1/status/1613263197930422272

Ellen’s Dx Journey - 40 year old

https://www.syngapresearchfund.org/post/131-is-it-genetic-my-40-year-journey-of-misdiagnoses-for-my-son

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 89 of #Syngap10 - January 14, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

View Details

NEW GRANT - Cobb & Kind #AAV Grant by SRF US & UK

LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7016828620451053568

Twitter https://twitter.com/cureSYNGAP1/status/1611059709301362688

Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02McP84y7CP3FuGVS9huTGmP7A5NBGr6AQn26pYih1y3WptpVuDkRD118V65NpMQrWl

Announcement https://www.syngapresearchfund.org/post/pr-14-syngap-research-fund-u-s-and-syngap-research-fund-uk-award-grant-to-the-university-of-edinburgh-medical-schools-patrick-wild-centre-centre-for-discovery-brain-sciences

RAREAFFAIR #JPM23 WAS AWESOME - KAKIS FOCUSED ON BIOMARKERS

https://www.linkedin.com/in/allyson-berent-36621523/

Saving Ryan -

BIOMARKER - BIOLOGICAL AND DIGITAL ARE NEEDED

https://www.linkedin.com/posts/graglia_jpm2023-precisionmedicine-biotech-activity-7018331014909353984-NLLL

GLOBAL #RAREBEARS FOR A KIDDO NEAR YEAR YOU

https://www.rarescience.org/rare-science-partner/syngap1-research-fund/

SYNGAP1 in BEYOND THE ION CHANNEL

https://twitter.com/cureSYNGAP1/status/1611459555250311171 http://epilepsygenetics.net/2023/01/06/syngap1-three-things-to-know-in-2023/

HELLERLAB FUNDED BY #MDBR FOR ANOTHER YEAR

https://twitter.com/eahellerphd/status/1611414154946183169 #S10e14 https://www.youtube.com/watch?v=VpNJqjL0I-w

NOSPHARMA HAS #SYNGAP ON THE PIPELINE

https://www.linkedin.com/posts/anmolsnagpal_nospharma-innovating-treatments-for-rare-activity-7017271522109083648-Oeip/

See #S10e75 https://www.youtube.com/watch?v=lWFLyqLLVQQ

Episode 88 of #Syngap10 - January 10, 2023

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

View Details

SRF BY THE NUMBERS IN 2022

Twitter https://twitter.com/JMGraglia/status/1610633778015383552
Source https://www.syngapresearchfund.org/post/srf-2022-the-year-in-review-by-the-numbers

GREAT PRESS

Diagnosis of a 40 year old #SYNGAPian

Twitter https://twitter.com/cureSYNGAP1/status/1610656947447169025
Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02mur5g8SLEwjNNWafdQCzEJdUxRshVL4zwE1qRdZdHyTUHUrnFXU5D11JNJBew3Nkl
LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7016425793358626816

Inside Precision Medicine Profile

Twitter https://twitter.com/cureSYNGAP1/status/1610793389544570882
Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02xVVu69w4bAMA8kPe7kcAVg6HkvVrMcsEmBmMM56wxWCu7VbUHpAunr5YgNMPVwgrl
Linkedin https://www.linkedin.com/posts/curesyngap1_rare-parents-tackling-rare-diseases-activity-7016560489325375488-prUZ

DNAtoday Podcast

LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7014595296269586432
Twitter https://twitter.com/cureSYNGAP1/status/1608911995625164800
Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02V5WJnsGZaVj1MR9fotCY2NGEAuWZoNPKrmFf5YaWuQjhSRL3WM6BiHtf63KGFfAcl
Source https://dnapodcast.com/episodes/2022/12/30/217-syngap1-with-mike-graglia-and-elli-brimble

DEANNA IS AMAZING

Wednesday Warrior https://www.syngapresearchfund.org/families/support/syngap-warriors
Sign up to be a warrior https://www.syngapresearchfund.org/get-involved/advocacy/share-your-story
Photos https://twitter.com/JMGraglia/status/1610790226607366144

Episode 87 of #Syngap10 - January 4, 2023

Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

View Details

PRE-REGISTER FOR NEXT YEAR

https://twitter.com/cureSYNGAP1/status/1608462863819067397

https://docs.google.com/forms/d/e/1FAIpQLSfetAr8YH41nbJrJy1uXqJeS37nQD6khjDn-LiFxIWo5oUBjA/viewform

Buy this book on Amazon or on JR’s website - #MoreOfEverthing by JR

https://janiereade.com/ https://www.amazon.com/More-Everything-extreme-special-emotional-ebook/dp/B0BQ2C7HNL

JACKIE KANCIR STORY

https://www.facebook.com/cureSYNGAP1/posts/pfbid0gTTnF77VdbTirweTyKqKxHzDkNz66jUxxnvwMzjUxzwzFU1Q1U4HYrDywFMoBeAkl

https://twitter.com/cureSYNGAP1/status/1608216895240671232?s=20&t=INvuB36y5oJM-bL_RKtscg

https://www.linkedin.com/feed/update/urn:li:activity:7013986280099250177

CIITIZEN DATA BY CHOP

https://twitter.com/JillianLMcKee/status/1600202742269501442

ciitizen.com/syngap1

SCIENCE DAY AGENDAhttps://twitter.com/sandysmith317/status/1598322472037801984

FAMILY DAY AGENDA

8:30 AM SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky 10:45 AM REGISTRIES - Invitae, Simons, Rare-X w/Q&A

12:15 PM GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia

1:15 PM PRAXIS

1:40 PM TAKING ON BEHAVIORS - Jackie Kancir, SYNGAP1 Mom & Advocate

2:30 PM MORE OF EVERYTHING BOOK LAUNCH - Janie Reade, SYNGAP1 Mom & Author

3:20 PM SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky

3:45 PM SRF YEAR IN REVIEW - Rebecca, Peter, Pavel

4:30 PM LOOKING TO THE FUTURE - Mike

6:30 PM COMMUNITY DINNER

Episode 86 of #Syngap10 - December 29, 2022

Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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AES2022 clearly showed us that SRF & SYNGAP1 have arrived… #S10e85

Dr. Grinspan on AES

https://www.neurologylive.com/view/partnering-clinicians-parents-motivator-pediatric-epilepsy-research-zachary-grinspan

Ana Mingorance on SYNGAP1 and #EscapeVelocity https://www.draccon.com/dracaena-report/aes2022

Dr. Dennis Lal on AES & Geneticshttps://twitter.com/LalDennis/status/1600617199110070286

Mike’s Talk at AEShttps://twitter.com/LouisTDang/status/1598753675714887684

https://twitter.com/IDreamofGenes/status/1598753872172191745

https://twitter.com/john_oldenhof/status/1598756993073717249

CAMP4 Poster by Ali Al Abdullatif, MsChttps://twitter.com/camp4tx/status/1601222388317917186

Episode 85 of #Syngap10 - December 29, 2022

Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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InpatientOptimism is the appropriate feeling for this moment… #S10e84

Targeting Epilepsy Meeting at St. Jude:

https://www.stjude.org/research/initiatives/pediatric-translational-neuroscience-initiative/targeting-epilepsy-translating-advances-in-research-to-genetic-epilepsy-therapy.html

Praxis and PRAX-562 for #SCN2A and #SCN8A https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-advance-prax-562-phase-2-study

Go Team Canada and Overcome for Bowie Small Molecule Grant! https://www.eurekalert.org/news-releases/960181 https://twitter.com/cureSYNGAP1/status/1597268138793762817?s=20&t=g1cxR6D2qqzIp-6-q6sY3g

John Oldenhof, an #STXBP1 dad talks about two key points. https://www.biopharmaservices.com/blog/research-roundtable-for-epilepsy-a-reflection-by-dr-john-oldenhof/

S10e83 on Stoke and TimeOnDrug

https://www.youtube.com/watch?v=7uK2dCs53Ew

GivingTuesday - Support SRF!

https://secure.givelively.org/donate/syngap-research-fund-incorporated/givingtuesday-2022

Genomenon: https://www.streetinsider.com/Press+Releases/Genomenon+Partners+with+Three+Rare+Disease+Foundations+to+Advance+Precision+Drug+Development/20904631.html

Combined Brain: https://combinedbrain.org/

Thank you Heather and Spark! https://sparkforautism.org/discover_article/autism-answers-research/ https://twitter.com/cureSYNGAP1/status/1597348804021583872?s=20&t=g1cxR6D2qqzIp-6-q6sY3g

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 84 of #Syngap10 - November 29, 2022

Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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ASO in episode #S10e80: https://youtu.be/xeo94GViXiw?t=240

I am #StokedAboutStoke

BW Press Release with Link to their presentation: https://www.businesswire.com/news/home/20221114005268/en/Stoke-Therapeutics-Reports-Third-Quarter-Financial-Results-and-Provides-Business-Updates

Stoke announced partnership with Acadia in Episode 43 of Syngap10… https://www.youtube.com/watch?v=jElXobgYfCQ

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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Soiree: incredible, Boston: Fabulous & two todos before SYNGP-A-PALOOZA ‘22, NASHVILLE #S10e82

ATLANTA was an incredible event and a success for more reasons than you think - Check out this video: https://www.youtube.com/watch?v=NEEob7CzlfY - Family connection is everything - Raised funds from Atlanta community, it’s us folks.

Real but not True: https://www.psychologytoday.com/us/blog/finding-true-refuge/201702/real-not-true

BOSTON dinner, last night, was magical too. Check out this video: https://www.facebook.com/634352803/videos/512400737470459/

You have a WEEK to do RARE-X! Data to be shared at our meeting. https://syngap1.rare-x.org/ They will pull the data on Nov. 25th.

Send Summer a photo: Summer@SyngapResearchFund.org

Today! Stoke Update on STK-001 Phase 1/2a studies https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-host-webinar-and-conference-call-present

PMC 11/14-15 https://www.personalizedmedicinecoalition.org/events/Events/Personalized_Medicine_and_the_Patient

188+ Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/

SYNGAP1 ANNUAL MEETING aka “SYNGAP-A-PALOOZA”

NASHVILLE 12/1 & 2 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

8-8:30 WELCOME AND BREAKFAST - Lauren 8:30-10:45 SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky Sansbury & Nancy Kessler 11:00-12:00 REGISTRIES - Invitae, Simons, Rare-X w/Q&A 12:00-12:30 LUNCH 12:30-1:15 GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia 1:30-1:55 PRAXIS - Title TBD 1:55-2:40 TAKING ON BEHAVIORS - Jackie Kancir 2:40-3:10 MORE OF EVERYTHING BOOK LAUNCH - JR 3:25-3:50 SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky Arteaga 3:50-4:35 SRF YEAR IN REVIEW - Rebecca Kohlhepp, Peter Hallburton, Pavel Gerovich 4:35-5:00 LOOKING TO THE FUTURE - Mike Graglia 6:30-8:30 Community Dinner @ Deacon's New South

JOIN US - 12/1 RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377

JOIN US - 12/2 DINNER: https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-caregiver-dinner

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

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Episode 80 of Syngap10 - November 10, 2022

Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap

Stoke Update on STK-001 Phase 1/2a studies https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-host-webinar-and-conference-call-present

PMC 11/14-15 https://www.personalizedmedicinecoalition.org/events/Events/Personalized_Medicine_and_the_Patient

188+ Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/

SYNGAP1 ANNUAL MEETING aka “SYNGAP-A-PALOOZA”

NASHVILLE 12/1 & 2 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

JOIN US - 12/1 RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377

JOIN US - 12/2 DINNER: https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-caregiver-dinner

GENETIC THERAPY UPDATES

S10e80 https://youtu.be/xeo94GViXiw
:-) https://www.nytimes.com/2022/11/09/health/pompe-disease-treatment.html
:-/ http://www.cureffi.org/2022/11/01/asos-hydrocephalus/
- “we are working to develop an ASO against PRNP as a therapy for prion disease…
- Overall, it’s hard to know whether there exists an association between nusinersen and hydrocephalus; if there is, the effect size is not huge and the frequency appears low. No patients appear to have died from it.
- I don’t believe that the tragic results reported for valeriasen should hold us back from bringing a prion disease ASO into trials. But, this is one more reminder that clinical trials are experiments, and the first-in-human dose of a drug is really the starting line and not the finish line.”

SMA: THREE DRUGS! BIG Pipeline. https://www.curesma.org/sma-drug-pipeline/

Angelman Trials: 3 recruiting. https://clinicaltrials.gov/ct2/results?cond=Angelman+Syndrome&term=&cntry=&state=&city=&dist=

Dravet Trails, 7 recruiting, 1 is ASO with Stoke. https://clinicaltrials.gov/ct2/results?cond=Dravet+Syndrome&Search=Apply&recrs=a&age_v=&gndr=&type=&rslt=

CANNONBALL 2.0 - $156,802 Listen to the Radio interview! https://www.syngapresearchfund.org/cannonball

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

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Episode 80 of Syngap10 - November 10, 2022

Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/

Thx Alok: https://twitter.com/aloktayi/status/1587093289156517888

CANNONBALL 2.0 - $156,802

Press: https://www.cnbc.com/2022/10/29/dads-road-trip-for-syngap1-raised-150000-for-rare-genetic-disease-.html

Total: https://www.justgiving.com/fundraising/ufd-cftc-2022

Tweet: https://twitter.com/UFDTech/status/1585640994652889089

Interview with Prosser: www.youtube.com/watch?v=gFLEj_Uq1k8

Interview with Rarebase: https://www.youtube.com/watch?v=HuUjJ7XyXhU

S10e79 https://www.youtube.com/watch?v=VDTwnaq9qIU

FOUR EVENTS

LA: 11/1: https://epilepsyawarenessday.org/event-info/information/

ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap

BOSTON: 11/13 Call Sandy.

NASHVILLE 12/1 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377

Another incidence paper! Thanks Maddie Gillentine, PhD:

https://twitter.com/maddieag/status/1586421844566908928

4/100 number: https://twitter.com/maddieag/status/1586422427076022273

ASOs

ASO 101 - 12 minute mark: https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides

Sad news KCNT1

News: https://twitter.com/cureSYNGAP1/status/1585613781467484160 Response: https://twitter.com/KCNT1_Epilepsy/status/1585616246132936705

Trials are afoot: Dravet with Stoke: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-presents-data-phase-12a-monarch-study-stk-001

Angelman: https://www.tandfonline.com/doi/full/10.1080/13543784.2021.1939674

Minor Miracle - Milasen - https://www.wired.co.uk/article/milasen-aso-gene-therapy

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

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Episode 80 of Syngap10 - October 31, 2022

Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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CANNONBALL!

Donate now, it’s matched: https://www.justgiving.com/fundraising/ufd-cftc-2022

Brett talking about CB2 https://www.youtube.com/watch?v=2Wb0RO74UIo UPenn interview https://www.youtube.com/watch?v=gFLEj_Uq1k8 Twitch: https://www.twitch.tv/ufdisciple

Brett: https://twitter.com/UFDTech Peter: https://twitter.com/phalliburton Kevin: https://fryereeves.com/kevin-w-frye/

VISITS

Pavel: https://twitter.com/SydneyStel/status/1584233335554854915/photo/2 Sydney: https://twitter.com/SydneyStel/status/1583079166014263296?s=20&t=YGu_OlFePZ5_jEhZvMj97g Rebecca: https://twitter.com/SydneyStel/status/1584233335554854915/photo/3 Virginie: https://twitter.com/McNamarVirginie/status/1583871153231183872?s=20&t=YGu_OlFePZ5_jEhZvMj97g Lauren: https://twitter.com/UFDTech/status/1584003603463045120?s=20&t=YGu_OlFePZ5_jEhZvMj97g

RAREBASE

https://www.rarebase.org/

AMAZING PRESS

TV - CBS - NY https://www.cbsnews.com/newyork/news/dads-take-dares-for-donations-on-cross-country-road-trip-raising-money-for-syngap1-research/

FORBES https://www.forbes.com/sites/billroberson/2022/10/21/electric-cannonball-run-dads-drive-a-tesla-model-y-cross-country-to-fight-a-disease-affecting-their-sons/

FOX https://www.foxnews.com/us/dads-drive-across-country-expand-awareness-kids-rare-disease

TONY

https://threadreaderapp.com/thread/1582766217810493441.html

UPCOMING EVENTS

NOVEMBER IS GIVING SEASON!

3 Weeks: - November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap - November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient

6 Weeks: December 1&2 in TN - SYNGAP1 CONFERENCE 2022: Charting our rare disease treatment path https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://syngap.fund/10a

Episode 79 of Syngap10 - October 23, 2022

Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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EVENT RECAPS

October 8th -New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala

South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap

UPCOMING EVENTS

8 Days: - October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase

NOVEMBER IS GIVING SEASON!

4 Weeks: - November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap - November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient

7 Weeks: December 1&2 in TN - SYNGAP1 CONFERENCE 2022: Charting our rare disease treatment path https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://syngap.fund/10a

Episode 78 of Syngap10 - October 13, 2022

Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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INCREDIBLE MEETING, THANK YOU GC FOR THE HOSPITALITY! https://www.linkedin.com/feed/update/urn:li:activity:6982842796319657984 https://www.forbes.com/sites/greglicholai/2022/10/03/renaissance-in-precision-neuroscience-expected/?sh=61d48fa0c8a3

GRANT ALERT Coller mRNA Work at Hopkins https://www.eurekalert.org/news-releases/966873

COMPANY UPDATE Stoke Tx https://www.stoketherapeutics.com/ Praxis Medicine https://praxismedicines.com/ Rarebase https://www.rarebase.org/ Beacon Biosignals https://beacon.bio/ Jaxon Labs - 2 Mice in Progress. https://secure.givelively.org/donate/syngap-research-fund-incorporated/patient-derived-mice-models-at-jax Ionis - See Prosser Webinar! (Webinar 63) https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides https://www.syngapresearchfund.org/post/unite-to-bike-syngap-research-fund-rides-in-person-at-the-million-dollar-bike-ride Tevard https://tevard.com/

EVERY PATIENT MATTERS Census is now at 1,135 Patients. https://www.syngapresearchfund.org/post/123-syngapcensus-2022-update-37-in-q3-2022 https://twitter.com/cureSYNGAP1/status/1576246751974944768

GLOBAL FILE SRF Site is now in all Languages! Colombia/LatAmerica 🇨🇴- Vicky is amazing hosting a dinner at https://simposio.acmgen.org/ see - https://twitter.com/JMGraglia/status/1577319370081980416 - https://www.linkedin.com/posts/graglia_syngap1-activity-6983238494441672704-4ihv

EVENTS ARE COMING NEXT WEEK on October 8th! New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala

South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap News Report: https://www.youtube.com/watch?v=a7sBTkL5KLo

2 Weeks: October 12-15 in OH - Child Neurology Society

3 Weeks: October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase

NOVEMBER IS GIVING SEASON!

6 Weeks: November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient

8 Weeks: December 1 in TN - Syngap Science Meeting - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

etc.

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://syngap.fund/10a

Episode 77 of Syngap10 - October 4, 2022

Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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EVERY PATIENT MATTERS

Lots of work with doctors these days. e.g. Tony: DOI: 10.1159/000492706 https://www.karger.com/Article/FullText/492706 e.g. Jaxon: https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344

WE ARE GLOBAL

SRF Site is now in all Languages!

Ukraine/Poland 🇺🇦🇵🇱- https://www.syngapresearchfund.org/post/122-a-letter-of-thanks-from-a-ukrainian-syngap-family #S10e72

Greece 🇬🇷- Greek framily from #S10e72 now working with expert in Spain. Thank you Dr. Aledo!

Colombia/LatAmerica 🇨🇴- Vicky is amazing. https://simposio.acmgen.org/

Netherlands 🇳🇱- We have a Rare-X Platform and everyone should engage. Sign up at https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program Watch #S10e71 starting at 5:30 https://youtu.be/iPoOjKBwPfY?t=333 Sign up: https://syngap1.rare-x.org/

UK 🇬🇧- News coming.

EVENTS ARE COMING

2 Weeks on October 8th! New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala

South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap

3 Weeks: October 12-15 in OH - Child Neurology Society

4 Weeks: October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase

NOVEMBER IS GIVING SEASON!

7 Weeks: November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient

10 Weeks: December 1 in TN - Syngap Science Meeting - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://syngap.fund/10a

Episode 76 of Syngap10 - September 25, 2022

Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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GLOBAL GENES WAS GREAT

Panel was impressive, will be sharing when recording is live, one point was small molecules…

GlobalGenes #CareAboutRare

EVENTS ARE COMING

3 weeks! October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap

8 weeks! November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree

11 weeks! December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat

RAREBASE

Talked about this in #s10e27 https://youtu.be/r3bS9YepQ4s

We are investing in small molecule repurposing as fast as we can. Four lines…

Cannonball 2.0 is on! Checkout UFDtech on 21 October 2022!

LINK#UFDtech #CannonballForTheCure #RareBase

NOSPHARMA

Talked about Bowie in #s10e69 https://www.youtube.com/watch?v=xl_r4hoDlf8

Nospharma leverages unique biological causes of brain disorders within the context of what is already known, to deliver effective treatments. By placing biology-first, we've created new drugs and repurposed on-the-market drugs to improve treatment success. We aim to deliver the most effective therapeutics for some of the most severe brain disorders, as quickly as possible. …from https://www.linkedin.com/company/nospharma/

NOSpharma

SIMONS/INVITAE PARTNERSHIP

Two of the most important players in the Rare Epilepsy Ecosystem are partnering and it’s great news for SYNGAP1 and SRF. https://www.prnewswire.com/news-releases/invitae-and-simons-searchlight-partner-to-accelerate-research-through-data-sharing-301621469.html Tweet: https://twitter.com/cureSYNGAP1/status/1569326298790789122

SimonsFoundation #Autism #Invitae #ciitizen

Satterstrom paper associates SYNGAP1 with Autism strongly https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250485/ See figure 2B https://pubmed.ncbi.nlm.nih.gov/31981491/#&gid=article-figures&pid=figure-2-uid-1

AUTISM BRAIN NETWORK

Webinar: https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet Site: https://www.autismbrainnet.org/

etc.

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

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Episode 75 of Syngap10 - September 18, 2022

Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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Praxis + Ciitizen = PROGRESS #S10e74

PRAXIS & CIITIZEN

Webinar On-Demand Registration - https://pages.questexinfo.com/invitaereg09082022/

Twitter - https://twitter.com/cureSYNGAP1/status/1568223901628637184?s=20&t=_UdtyirDq-dfLJD9Eo3GPw/

Facebook - https://www.facebook.com/cureSYNGAP1/posts/pfbid02usJYQPSQEr5yrUkhkfmcwhfit6WLgUFK56VXCaEVypCuVvxNb74pnkTiXqgZsdFtl/

LinkedIn - https://www.linkedin.com/feed/update/urn:li:activity:6973995629647720448/

LEON

Light a candle for Leon here https://www.bestattung-huettner.at/sterbefall/52048/?action=gedenkkerzen

GRANTS

So much good news coming. We need to raise more money! Please see list below!

GLOBAL GENES IS NEXT WEEK!

If you can’t come in person, register virtually! https://globalgenes.org/event/rare-patient-advocacy-summit/

STUFF I DIDN’T TALK ABOUT BUT WILL SOON

Rarebase
EXN ;-)

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://syngap.fund/10a

Episode 74 of #Syngap10 - September 9, 2022

GlobalGenes #PRAX090 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

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SRF Page on Leon - https://www.syngapresearchfund.org/leon

SRF Grant with Leon & Friends - https://www.eurekalert.org/news-releases/957967

Light a candle for Leon - https://www.bestattung-huettner.at/sterbefall/52048/

SRF on Social for Leon -https://www.facebook.com/cureSYNGAP1/posts/pfbid0RqALzmaTh8zGeT1KMUbfiXgv9o7PPR2JJPcZNPpR91ce7tYz5foWmb47652r8c2Ml - https://twitter.com/cureSYNGAP1/status/1564626096640901121 - https://www.linkedin.com/feed/update/urn:li:activity:6970394298483630080

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a

Episode 73 of #Syngap10 - September 2, 2022

CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

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SUPPORT OUR PATIENT IN UKRAINE

Fundraiser: https://secure.givelively.org/donate/syngap-research-fund-incorporated/help-syngap-family-escape-ukraine/

Tweet: https://twitter.com/JMGraglia/status/1563362473327005698

LONGBOARD PHARMA & RAREBASE

Watch #S10e71 https://www.youtube.com/watch?v=iPoOjKBwPfY

SEIZURE TRACKER

Watch #S10e70 https://youtu.be/g6R9ejJnYbw More detail in Webinar64 https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker

WEBINARS

PRAXIS & INVITAE - SEPT 8th at 10 PT https://pages.questexinfo.com/invitaereg09082022/?pk=Invitae

BEN PROSSER - SEPT 29th at 9 PT https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides

COME TO THE CONFERENCE

Book a room: Link on the registration page.

LOTS OF EVENTS TOO!
2 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/
5 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
5 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
10 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
13 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://syngap.fund/10a

Episode 72 of #Syngap10 - August 27, 2022

SalvaUkrani #helpneeded #Stoke #Acadia #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

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RAREBASE https://www.rarebase.org/

We announced a partnership at year ago, check out #S10e27 https://www.youtube.com/watch?v=r3bS9YepQ4s Now we are doing phase 2… stay tuned.

LONGBOARD PHARMA https://www.longboardpharma.com/

STUDY- https://pacific.researchstudytrial.com/ (Shared in #S10e65 - https://www.youtube.com/watch?v=hSK21-y8fQI)

TALK - https://www.youtube.com/watch?v=s7l7wnrEX5E (Link shared in #S10e67 - https://www.youtube.com/watch?v=dVpl1UEBVXA)

SEIZURE TRACKER

Watch #S10e70 https://youtu.be/g6R9ejJnYbw More detail in Webinar64 https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker

WEBINARS

PRAXIS INVITAE - SEPT 8th at 10 PT https://pages.questexinfo.com/invitaereg09082022/?pk=Invitae

BEN PROSSER - SEPT 29th at 9 PT https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides

REGISTRIES: CIITIZEN, SIMONS, RARE-X

CIITIZEN FIRST in US (MEDIAL RECORDS)

Refresh by logging into https://app.ciitizen.com

Profile update: https://intercom.help/ciitizen-corp/en/articles/6421786-ciitizen-profile-update

SIMONS GLOBALLY (GC INTERVIEWS)

Simons Searchlight participants can be from any country, as long as they speak English, Spanish, French or Dutch. Click Join Us on https://www.simonssearchlight.org/research/what-we-study/syngap1/

RARE-X (QUESTIONS)

Webinar: https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program

COME TO THE CONFERENCE

Book a room: Link on the registration page.

6.COVID DEE SURVEY

https://www.surveymonkey.com/r/DEEsCOVID19

LOTS OF OTHER EVENTS TOO!
3 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/
6 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
6 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
11 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
14 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://syngap.fund/10a

Episode 71 of #Syngap10 - August 23, 2022

PRAXIS #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

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REFRESH RECORDS COLLECTION

Go to your providers and see what records were collected and when, if you have been back since then, ask them to recollect.

If you are signed up for ciitizen, you have an email from “Invitae Research Studies - research-studies@invitae.com”

The subject is “Invitation to participate in Invitae's Ciitizen rare neurological disorders research study”

DO IT EVERY DAY FOR 30 DAYS

WATCH THE WEBINAR (Number: 64)

FB: https://www.facebook.com/cureSYNGAP1/videos/5755953431123242/

YT: https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker/

IF YOU HAVEN’T ALREADY, SIGN UP FOR CIITIZEN www.ciitizen.com/syngap1

LEARN ABOUT PRAXIS: https://www.youtube.com/watch?v=Kh7O1bxXsSE

KEY REMINDERS

FUNDRAISERS

BOWIE/ID in US syngap.fund/bowie

BOWIE/ID in CANADA syngap.fund/overcome

MICE: Help us Make 2! https://syngap.fund/2mice

BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers

EVENTS

4 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/

8 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala

8 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap

9 Weeks: October 12-15 in OH - Child Neurology Society https://www.childneurologysociety.org/colleagues/network/cns-annual-meeting/

13 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree

13 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient

16 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://syngap.fund/10a

Episode 70 of #Syngap10 - August 12, 2022

PRAXIS #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

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First grant: You can learn more about the Courtney grant in episode 66? #s10e66 https://www.youtube.com/watch?v=_eVw6Oc_V_Y (Like these and subscribe to our YouTube channel).

Second grant: Here is the press release and social media on the Bowie grant. - Facebook: https://www.facebook.com/cureSYNGAP1/posts/356581543313514 - Twitter: https://twitter.com/curesyngap1/status/1552642957546700800 - LinkedIn: https://www.linkedin.com/feed/update/urn:li:activity:6958432905563955200 - Press Release: https://www.eurekalert.org/news-releases/960181

1. We have LOTS of requests for support, many are good. So you should join us in supporting this one. 2. This is exciting - Quality and Focused - We said yes.

The Bowie Grant story. Excellent and committed to SYNGAP1. Can’t help but like the guy.

Key words from press release: Prof. Bowie believes that by correcting targets downstream of these synapses, a specific combination therapy can result in a common improvement of the ID phenotype. This grant will support his lab in investigating the efficacy of this therapy via SYNGAP1 mouse models…to test our idea of using a small molecule approach to target the molecular pathways giving rise to intellectual disability. I am excited to see what new insights this research will uncover.

3. Global Collaboration - Overcome and Campdraft/SRF-Australia

Tax deductible Donations in TWO Countries for this grant: - US syngap.fund/bowie - CANADA syngap.fund/overcome

4. Reminder: Infrastructure is huge and it’s here for you.

Don’t take for granted the work that is required to give you opportunities to fund. Diligence, Grants to leading researchers, Webpages, Tax receipts, funds flowing directly to well governed organizations. It’s here for you, fund the work!

FUNDRAISERS

BOWIE/ID in US syngap.fund/bowie
BOWIE/ID in CANADA syngap.fund/overcome
MICE: Help us Make 2! https://syngap.fund/2mice
BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers

EVENTS - 6 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ - 10 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/- fundraising/caren-leib-gala - 10 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - 11 Weeks: October 12-15 in OH - Child Neurology Society https://www.childneurologysociety.org/colleagues/network/cns-annual-meeting/ - 15 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - 15 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient - 18 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a

Episode 69 of #Syngap10 - July 29, 2022

Bowie #McGill #IntellectualDisability #overcomesyngap1 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

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Remember Episode 67? https://www.youtube.com/watch?v=dVpl1UEBVXA (Like these and subscribe to our YouTube channel).

Monday

Invitae Announcement

https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Announces-Strategic-Business-Realignment-to-Accelerate-Its-Path-to-Positive-Cash-Flow-and-Realize-Full-Potential-of-Industry-Leading-Genetics-Testing-Platform/default.aspx

Sign up for Ciitizen: https://syngap.fund/ciitizen
CMO email: “While the announcement focused primarily on our operations and product portfolio, I wanted to take this opportunity to reinforce that Invitae remains unwavering in its commitment to patients. Cultivating strong relationships with Patient Advocacy Groups remains central to our business and our patient-centric philosophy.

We will continue to collaborate closely with our Patient Advocacy partners and communities to educate patients and their families on the value of genetic testing in diagnosing and potentially preventing disease. Together with you, we remain steadfast in empowering and supporting patients and highlighting the many opportunities where genetic testing may be beneficial. “

Pharmacogenetics in case you are curious: https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Launches-Expanded-Pharmacogenomics-Panel-and-Specialized-Mental-Health-Panel/default.aspx

Tuesday

Prosser Pre-Print - Mapping PTBP splicing in human brain identifies targets for therapeutic splice switching including SYNGAP1
“We find that PTBP2 binding to SYNGAP1 mRNA promotes alternative splicing and non-sense mediated decay. Antisense oligonucleotides that disrupt PTBP binding sites on SYNGAP1 redirect splicing and increase gene and protein expression.”
https://twitter.com/cureSYNGAP1/status/1549408144987652104?s=20&t=u5iAtpoucdyaiT06Vt77pg

Wednesday

Sample collection at Stanford.
Planning for end of year, see below.

Thursday - CHOP Update

https://www.helbiglab.io/
https://www.youtube.com/watch?v=JVTnkQCtQNo

Friday - Disease concept interview, Rarebase & Colombia

WCMC is looking to add to the pile of disease concept studies, which we VERY MUCH need. For the pile see Vlaskamp 2019, Jimenez-Gomez 2019, Smith-Hicks 2021, Wright 2022, Lyons-Warren 2022.
https://www.rarebase.org/
Vicky is also building community in LatAm, there is a reunion this weekend!

https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w

FUNDRAISERS

MICE: Help us Make 2! https://syngap.fund/2mice
BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers

EVENTS

7 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/
10 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
10 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
11 Weeks: October 12-15 in OH - Child Neurology Society
15 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
16 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient
18 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 68 of #Syngap10 - July 25, 2022

Ciitizen #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

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COMMUNITY

Two blogs you must read:

Charlie https://syngap.fund/charlie
MDBR https://syngap.fund/unite

Vicky is also building community in LatAm, there is a reunion this weekend!

https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w

LEARNING

Community is big, think Genetic Epilepsies, Remember the Dravet meeting? Well now you can go too: https://dravetfoundation.org/events/dsf-conference/

Stoke: https://www.youtube.com/watch?v=xHCYFDSwf-o
Longboard: https://www.youtube.com/watch?v=s7l7wnrEX5E
Epigenyx: https://www.youtube.com/watch?v=a-fBOr1W3Dw
Ingo: https://www.youtube.com/watch?v=JVTnkQCtQNo

Check out this trial: https://pacific.researchstudytrial.com/?utm_source=other&utm_medium=Longboard&utm_campaign=patient_recruitment&r=16

FUNDRAISERS

MICE: Help us Make 2! https://syngap.fund/2mice
BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers

EVENTS

8 Weeks: September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/
11 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
11 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
16 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
19 Weeks: December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 67 of #Syngap10 - July 18, 2022

CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

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SyngapCensus for 2q22 is 1098!

https://www.syngapresearchfund.org/post/syngapcensus-2022-update-43-in-q2-2022

Incidence and Prevalence Article

https://www.syngapresearchfund.org/post/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed

GRANT TO COURTNEY LAB - Spread the word

-Twitter: https://twitter.com/JMGraglia/status/1544634675808722946

-LinkedIn: https://www.linkedin.com/posts/curesyngap1_missense-collaboration-syngap1-activity-6950413553703030784-6VHG/

-Facebook: https://www.facebook.com/cureSYNGAP1/posts/pfbid02JshtwTaK1eSPJ4kUy9Ga1ZrQGAyvk7DyrK1tPWk5UauYDx8mTY8ENeYCUfCnPwXEl

-Press Release: https://www.eurekalert.org/news-releases/957967

GENETICS

Missense: https://www.genome.gov/genetics-glossary/Missense-Mutation Protein Truncating:

Nonsense: https://www.genome.gov/genetics-glossary/Nonsense-Mutation
Frameshift: https://www.genome.gov/genetics-glossary/Frameshift-Mutation

FUNDRAISERS - MICE: Help us Make 2! https://syngap.fund/2mice

EVENTS

-September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/

-October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala

-October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap

-November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree

-December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 66 of #Syngap10 - July 6, 2022

CareAboutRare #Ciitizen #Ambry #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

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WEBINARS

Susan on Fundraising: https://syngap.fund/susan
Go to the CIITIZEN Webinar tomorrow (June 29th @ 11:30 ET) https://syngap.fund/virginie
Sign up! https://www.ciitizen.com/syngap1/

FUNDRAISERS

SHARE & SUPPORT by Thursday, all funds matched in June! https://www.facebook.com/donate/435907651714018/336149052023430/
MICE: Help us Make 2! https://syngap.fund/2mice

DRAVET WAS AMAZING

Mike’s Tweet-threads about the event
Day 1 https://twitter.com/JMGraglia/status/1540061343813885952
Day 2 https://twitter.com/JMGraglia/status/1540339186187788289
Day 3 https://twitter.com/JMGraglia/status/1540709603406540803
DSF https://dravetfoundation.org/
Conference https://dravetfoundation.org/events/dsf-conference/
Dr. Andrade / AGE - https://www.uhnresearch.ca/researcher/danielle-andrade
Dr. Perry & Dr. Papadelis at Cook Children’s
Article about Perry/Cook https://www.checkupnewsroom.com/rare-disease-day-carter--many-patients-treated-cook-childrens-syngap-rare-disease-seizures/
Dr. Perry on the Twitter: https://twitter.com/TheNotoriousEEG
Link with the Dr. Papadelis study: https://www.cookchildrens.org/services/neurosciences-research/funding/
Longboard
https://www.longboardpharma.com/
https://pacific.researchstudytrial.com/
Epigenyx
https://www.epygenix.com/
Baraban Lab https://barabanlab.ucsf.edu/
Clemizole Tweet https://twitter.com/JMGraglia/status/1540712480975884288

EVENTS

September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/

October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala

October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap

November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree

December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 65 of #Syngap10 - June 28, 2022

CareAboutRare #CureDravet #DSFinDFW #Ciitizen #LongboardPharma #Epigenyx #CookChildrens #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

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TELL EVERYONE

New mom chat
Kali’s article and twitter
https://www.insider.com/my-child-diagnosed-rare-genetic-condition-syngap1-2022-6
https://twitter.com/WorthKali
Tavillas: https://syngap.fund/susan (6/22/15)

CHECK OUT THIS CONFERENCE: https://syngap.fund/treat

DRUG CO NEWS

Anglemans and Ionis! https://www.prnewswire.com/news-releases/ionis-treatment-for-angelman-syndrome-receives-orphan-drug-and-rare-pediatric-disease-designations-from-us-fda-301566169.html
Praxis update: At the end, scroll down.

CIITIZEN

Webinar was awesome https://syngap.fund/virginie
Sign up! https://www.ciitizen.com/syngap1/

PROBABLY GENETIC IS WORKING!

Assessment: syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap/
Webinar: https://syngap.fund/PG
Sponsored testing with Mahzi! https://mahzi.com/

REMEMBER NOT TO MISS

June 2022 https://mailchi.mp/syngapresearchfund.org/june22
Sign up for the EF Panel: https://bit.ly/efmen

FUNDRAISERS

MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22
MICE: Help us Make 2! https://syngap.fund/2mice

EVENTS

June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon.
September 12-14 in San Diego - #GlobalGenes Meeting. Link soon.
October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast

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Episode 64 of #Syngap10 - June 14, 2022

F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration #EpilepsyFoundation #Praxis #ProbablyGenetic #Mahzi

Copy from letter from Praxis:

Monday morning, June 6th, we published an 8K filing announcing news involving multiple programs at Praxis Precision Medicines. One of these announcements pertained to the FDA’s clinical hold on our recent IND filing for PRAX-222 in SCN2A, so we wanted to share further context for it.

On May 25, 2022, the Company received a communication from the U.S. Food and Drug Administration (the “FDA”) providing additional information on the clinical hold placed on the Company’s Investigational New Drug application (the “IND”) for the study of PRAX-222, an antisense oligonucleotide, for the treatment of patients with SCN2A gain-of-function mutations. The communication indicated that our IND could be cleared once we submit additional documentation related to the preclinical non-human primate toxicology study that supports the proposed starting dose in the clinical study. We’re requesting a Type A meeting with the FDA to confirm the study design and further clarify the requirements for dose escalation beyond the starting dose. This surely will leave our SCN2A community with questions about the timing of our path forward. While the protocol and the discussions being held with the FDA remain confidential, we will do our best to maintain transparency and responsiveness throughout the process.

We continue to be fully committed to advancing PRAX-222 to clinical study. We also want to restate that this news is specific to PRAX-222, without impact on our PRAX-562 program for SCN2A, SCN8A and TSC. In Monday’s press release, we reiterated our focus on driving toward proof of concept for PRAX-562. We’ll provide further updates on PRAX-562 as we approach major milestones on this path. In addition, our other programs in PCDH19 and SYNGAP1 remain on-track.

Beyond epilepsy, Monday’s 8K filing announced significant news pertaining to our Aria study of PRAX-114 in Major Depressive Disorder (MDD). It is with great regret that we announce the failure of the Aria Study, a study to determine the efficacy of a GABBA PAM extrasynaptic preference medicine to achieve fast-acting, lasting reduction of symptoms of MDD. After reviewing the data and our operational controls and observing failure to achieve our primary endpoint, we determined that PRAX-114 was indeed safe but not efficacious, and no further research and development of PRAX-114 is warranted. This conclusion has a negative impact on the study of PRAX-114 to treat Post-Traumatic Stress Disorder and Essential Tremor. This is a difficult decision for the Praxis team; but our commitment and capacity to researching and developing genetic insight-based treatments for people living with disorders of the CNS is in no way diminished.

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CHECK OUT THIS CONFERENCE: https://syngap.fund/treat

PROBABLY GENETIC IS WORKING!

Assessment: syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap/
Testing: syngap.fund/ambit - https://www.ambitcare.com/registration-syngap-research-fund
Webinar: https://syngap.fund/PG - Thursday, June 9th at 9am PT/Noon ET/5pmBST

DON’T MISS OUR NEWSLETTER

June 2022 https://mailchi.mp/syngapresearchfund.org/june22
Sign up https://www.syngapresearchfund.org/families/newsletters
Please make sure we are not going to Spam

FATHERHOOD & RARE

Sign up for the EF Panel: https://bit.ly/efmen - https://us06web.zoom.us/webinar/register/WN_Iv8d06ffT_uDbRDXAAWKOg
SFN Dad To Dad Podcast: https://www.spreaker.com/user/specialfathers/dad-to-dad-204-mike-graglia

LINKS FORM EF #PIPELINECONFERENCE 2022

Agenda: https://www.epilepsy.com/research-funding/pipeline-conference
Kayak study for #SCN8A: https://kayakstudy.com/
Prax562: https://www.globenewswire.com/news-release/2022/01/18/2368578/0/en/Praxis-Precision-Medicines-Announces-Publication-of-Preclinical-Data-Highlighting-Differentiated-and-Potent-Antiepileptic-Activity-of-PRAX-562.html
$PRAX https://seekingalpha.com/news/3845864-prax-stock-on-watch-as-lead-asset-fails-in-depression-trial
Engrail: https://www.businesswire.com/news/home/20220607005544/en/Engrail-Therapeutics-Announces-Positive-Results-of-ENX-101-Phase-1b-Clinical-Study-and-Prepares-for-Initiation-of-ENACT-Phase-2-Trial-in-Focal-Epilepsy

FUNDRAISERS

MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22
MICE: Help us Make 2! https://syngap.fund/2mice

EVENTS

June 11 in Philly - Support our team https://syngap.fund/srfmdbr22

June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon.

September 12-14 in San Diego - #GlobalGenes Meeting. Link soon.

October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala

October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap

November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree

December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat

EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 63 of #Syngap10 - June 7, 2022

F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration #EpilepsyFoundation #Engrail #Praxis #Neurocrine #ProbablyGenetic #AmbitHealthcare

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OUR LEADERS ROCK

Thank you to the US Board https://www.syngapresearchfund.org/home/our-team/meet-the-team-board-of-directors
Thank you to the UK Trustees https://www.syngapresearchfund.org/home/our-team/team-srf-united-kingdom
Thank you to the EU Board https://www.syngapresearchfund.org/home/our-team/team-srf-eu
Thank you to Fondo Syngap https://www.syngapresearchfund.org/home/our-team/fondo-de-investigacion-syngap

PROBABLY GENETIC IS WORKING!

https://syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap

WEBINARS

Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” https://syngap.fund/Splice - Thursday, June 2nd - 10am PT/1pm ET/ 6pm BST
Lukas “Finding patients with Probably Genetic” https://syngap.fund/PG - Thursday, June 9th @ 9am PT/ Noon ET/5pm BST
Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” https://syngap.fund/Holly was great, watch the recording!

FUNDRAISERS

MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22
MICE: Help us Make 2! https://syngap.fund/2mice
MIKE: I’m matching all donations in May! https://www.facebook.com/donate/1933159523538117/1611962155842267
YOU: Remember to use your birthday on Facebook to do an SRF fundraiser! You get a gift card to the SRF shop as a thank you! https://www.facebook.com/cureSYNGAP1/fundraisers

EVENTS

June 11 in Philly - Support our team https://syngap.fund/srfmdbr22
June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon.
September 12-14 in San Diego - #GlobalGenes Meeting. Link soon.
October 8 in NJ - Caren Leib Gala - https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
October 8 in SC - Scramble for SYNGAP - https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
December 1 in TN - Syngap Science Meeting - Stay tuned

EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 62 of #Syngap10 - May 28, 2022

F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

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LET’S FIND MORE PATIENTS (of color) - https://www.syngapresearchfund.org/syngap-warrior/ethan - https://syngap.fund/maybe -> https://symptom-checker.probablygenetic.com/syngap/

WEBINARS - Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” - https://syngap.fund/Holly- Thursday, May 26th 9am PT/12pm ET/5pm BST - Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” - https://syngap.fund/Splice - Thursday, June 2nd/10am PT/1pm ET/6pm BST - Lukas “Finding patients with Probably Genetic” https://syngap.fund/PG - Thursday, June 9th - 9amPT/Noon ET/5pm BST

FUTURE IS COMING - Went to PMC last week and it was epic https://twitter.com/JMGraglia/status/1527311983069908992?s=20&t=lV5BL43vS5h8LrYlPWjbTQ #permedconf

GETA was GREAT https://www.geneticepilepsyteam.com.au/conference-2022/livestream/

STOKE NEWS Tango with Ed. https://globalgenes.org/rare-cast/episode-387/

NEW GRANT in FINLAND! https://twitter.com/SyngapNetwork/status/1527660584011022336

FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice - MIKE: I’m matching all donations in May! https://www.facebook.com/donate/1933159523538117/1611962155842267/ - YOU: Remember to use your birthday on Facebook to do an SRF fundraiser! You get a gift card to the SRF shop as a thank you! https://www.facebook.com/cureSYNGAP1/fundraisers

EVENTS:

June 11 in Philly - Support our team https://syngap.fund/srfmdbr22
June 25 in DFW - Join us for a family meeting and hear from Dr. Perry
October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
November 12 in GA - Sparks of Hope Gala https://www.syngapresearchfund.org/get-involved/fundraising/syngap-soiree
December 1 in TN - Syngap Science Meeting - Stay tuned

EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 61 of #Syngap10 - May 23, 2022

F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #HunterSyndrome #Praxis

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PREPRINT - SRF Tweet https://twitter.com/cureSYNGAP1/status/1524110425494745088 - Actual paper: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v2

WEBINARS - #Syngap Grandparent and USC Law Professor, Richard Peterson did an amazing job, check out his slides and watch the presentation at https://syngap.fund/IDEA - Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” https://syngap.fund/Holly/ - Thursday, May 26th 9am PT/12pm ET/5pm BST - Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” https://syngap.fund/Splice - Thursday, June 2nd 10am PT/1pm ET/6pm BST

FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice - MIKE: I’m matching all donations in May! - YOU: Remember to use your birthday on Facebook to do an SRF fundraiser! You get a gift card to the SRF shop as a thank you! https://www.facebook.com/cureSYNGAP1/fundraisers

STORYTELLING Watch these incredible sessions from our friends at DSF. And practice telling your story.

PRAXIS NEWS

Here is the thread on Praxis with the updates! https://twitter.com/cureSYNGAP1/status/1521852433713950721

HUNTERSYNDROME

Kim’s comments: https://www.facebook.com/571178176/posts/10158874132988177/
Press release: https://www.biospace.com/article/takeda-drops-hunter-syndrome-therapeutic-changes-tactics-

GETA: Conference, sign up to hear Ingrid & Steve: https://www.eventbrite.com.au/e/geta-2022-sydney-tickets-302049868287

EVENTS:

June 11 in Philly - Support our team https://syngap.fund/srfmdbr22
June 25 in DFW - Join us for a family meeting and hear from Dr. Perry
October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
November 12 in GA - Sparks of Hope Gala https://www.syngapresearchfund.org/get-involved/fundraising/syngap-soiree
December 1 in TN - Syngap Science Meeting - Stay tuned

EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 60 of #Syngap10 - May 13, 2022

F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #HunterSyndrome #Praxis

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Congrats to everyone who did #Sprint4Syngap. Thanks to Stoke for joining! https://twitter.com/StokeTx/status/1523651977594703872

WEBINAR: This Thursday May 12, 2022 join us for the Webinar with #Syngap Grandparent and USC Law Professor, Richard Peterson. Register at https://syngap.fund/IDEA

STUDY: Have you signed up for the Eye Tracking study yet? https://syngap.fund/eyetrack

TWITTER: Here is the thread on Praxis: https://twitter.com/cureSYNGAP1/status/1521852433713950721

GETA: Conference, sign up to hear Ingrid & Steve: https://www.eventbrite.com.au/e/geta-2022-sydney-tickets-302049868287

MICE: Help us Make 2! https://syngap.fund/2mice

RESEARCH: Ben talking about his SYNGAP1 work: https://www.youtube.com/watch?v=U6Z4UDYgGi4

EVENTS:

June 11 in Philly - Support our team https://syngap.fund/srfmdbr22
June 25 in DFW - Join us for a family meeting and hear from Dr. Perry
October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
November 12 in GA - Sparks of Hope Gala https://www.syngapresearchfund.org/get-involved/fundraising/syngap-soiree
December 1 in TN - Syngap Science Meeting - Stay tuned

EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 59 of #Syngap10 - May 9, 2022

F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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Praxis included SYNGAP1 in their Epilepsy Day Press Release and indicated they expect a candidate for SYNGAP1 in 2023! https://www.globenewswire.com/news-release/2022/04/27/2430231/0/en/Praxis-Precision-Medicines-Showcases-Largest-Targeted-Epilepsy-Portfolio-in-Industry-at-2022-Epilepsy-Day.html

Links mentioned -SRFRT1: https://www.syngapresearchfund.org/post/standing-room-only-at-srf-1st-annual-syngap-roundtable-srfrt -Praxis: https://praxismedicines.com/ -Steve fully dedicates his time to Praxis: https://www.globenewswire.com/news-release/2021/12/02/2344901/0/en/Praxis-Precision-Medicines-Announces-Management-Team-Appointments.html -RogCon: https://www.rogcon.com/company/#partners

EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/

2nd Annual Sprint4Syngap was a global success! Still time to donate: https://syngap.fund/sprint2022 and check out this thread on Twitter to see all the events: https://twitter.com/cureSYNGAP1/status/1520606983241437187

WEBINAR: Next week on Thursday May 12, 2022 join us for the Webinar with #Syngap Grandparent and USC Law Professor, Richard Peterson. Register at https://syngap.fund/IDEA

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 58 of #Syngap10 - May 2, 2022

F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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We need funding to make incredible science happen faster, so go listen to Dr. Anderson on Thursday and then help us raise some money on Saturday!

THURSDAY

Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg

SATURDAY 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022

I went to the bootcamp last week! https://www.pharmavoice.com/news/Ultragenyx-CEO-bootcamp-rare-disease-drug-development/621916/

We need great clinicians, let us know if you find one: https://Syngap.Fund/Docs

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 57 of #Syngap10 - April 25, 2022

F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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First, because patient data is organized, we have 172 people signed up for Ciitizen, make sure you are part of the first 200! Sign up now at https: www.ciitizen.com/SYNGAP1

Second, because there is a credible partner to help them work with patients, researchers and clinicians, see www.SyngapResearchFund.org ;-)

We do cool things like get ICD-10 codes. I got ANOTHER call (google #S10e48 & #S10e54) about ICD-10 codes. We are so lucky to have this code, USE IT. F78.A1

Third, because they believe they will find more patients and we believe that too. Here are three ways we are working on this:

First, we are working on reaching out to the communities of color to increase genetic testing for NDDs. If you know someone who would like to support another SRF Movie, please let us know.

Second, we need to resolve VUS patients. There are too many VUS patients with SYNGAP1. That is low hanging fruit for finding more patients.

Third, our work with Probably Genetic is going well. Over 1,750 people have taken that survey and we are going to reach out to ~80 people who we think need to pursue testing… PUSH OUT THIS LINK: https://syngap.fund/maybe

Check out this wonderful video from the Kyle and Kelli channel! https://www.youtube.com/watch?v=9KKi_1QG4FU

This is the article about the meeting Mike will be joining this week to represent the SynGAP community: https://www.pharmavoice.com/news/Ultragenyx-CEO-bootcamp-rare-disease-drug-development/621916/

Dates you need to know:

Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg

2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 56 of #Syngap10 - April 18, 2022

F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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Sprint4Syngap is just 3 weeks away! #S10e55

Special guest host, Peter Halliburton, Development Director at Syngap Research Fund and Syngap dad.

Sprint4Syngap

Learn more at http://Syngap.fund/sprint
What is Sprint4Syngap? SRF’s annual fun run fundraiser.
Create a team http://Syngap.fund/sprint2022
Banners http://Syngap.fund/banner

Fundraising For a Cause

Dr. Michael Courtney, University of Turku in Finland - $180k joint grant with Leon & Friends to focus on missense variants. https://bioscience.fi/research/neuronal-signalling-pathways/profile
Dr. Zach Grinspan, Weill Cornell Medicine - $270k grant looking at clinical trial for drug Ravicti showing promising results in other central nervous system disorders. https://vivo.weill.cornell.edu/display/cwid-zag9005
Rarebase will be coming back to us with a non-trivial sum for their drug repurposing screen. https://www.rarebase.org/

Questions? Reach out to Peter! peter@syngapresearchfund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 55 of #Syngap10 - April 9, 2022

SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Sprint4Syngap

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Census was launched today: https://www.syngapresearchfund.org/post/syngapcensus-2022-update-70-in-q1-2022

Industry news! - Fintepla for LGS! Great news for our LGS folks. https://twitter.com/cureSYNGAP1/status/1508573464810074113 - Tevard licensed tech from Prof. Jeff Coller. https://twitter.com/TevardB/status/1509511595663282178

We announced models to two labs with RDMM and Hasan, thank you! https://www.syngapresearchfund.org/post/syngap-research-fund-srf-announces-grants-to-dr-kurt-haas-and-dr-graziella-dicristo-in-partnership-with-canadas-rare-diseases-models-and-mechanisms-network-rdmmn

Thank you Julie for your help making mice, we are really having fun accelerating science. Thank you JR, Hans and Marta for joining meetings with a company to talk about other options for SRF. All costs $.

Global: Victoria is at Dravet in Spain with Katrien from the Netherlands. How cool is that? Denmark is next week.

BTW, remember episode 48 (google #S10e48) I got another call, the ICD-10 debacle continues. We are so lucky to have this code, USE IT. I had two meetings this week looking at health economics, this code is showing up and it is going to help us understand cost and find doctors. USE THE CODE… F78.A1

Probably Genetic, our partnership there continues and good things are coming, over 1,000 people have taken that survey and we are going to reach out to 40 people who we think need to pursue testing… PUSH OUT THIS LINK: https://syngap.fund/maybe

Advice time:

Build #TeamYourKid
1. Our kids don’t get simpler or smaller
2. Babysitters and community members who know them now are their advocates later
Double up on Neuros (unless you being seen by rockstars who are close)
1. Everyone needs a good local neuro, few have them, so keep that relationship, both for higher quality care and for someone close in emergencies.
2. If you have the time and the insurance, it's also a good idea to also be seen by a regional medical center. This is for three reasons
  1. Second opinions never hurt
  2. The regional folks will see more patients and are in an academic setting, so they are more likely to see patterns and publish case studies.
  3. When it's clinical trial time, companies won't call local doctors, they will call regional medical centers, you want to be on their list.

Reminder in last episode (google #S10e53) for all the events this year, but coming up fast:

Jackie’s webinar on Severe Behaviors, Wednesday April 6th. https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw
Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg
2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 54 of #Syngap10 - April 1, 2022

SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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Three events to plan on:

Jackie’s webinar on Severe Behaviors, Wednesday April 6th. https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw
Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg
2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022

Here are the dates to think about for the rest of the year…

April 7-8

5th Dianalund International Conference on Epilepsy - Implementing Epilepsy Genetics in Clinical Practice

Denmark

April 30

Sprint for Syngap

Worldwide

May 13-15

EpiCon Convention

Nashville, TN

June 5 – 6

Epilepsy Foundation Pipeline Conference

Santa Clara, CA

June 11

Million Dollar Bike Ride

Philadelphia, PA

June 21

Splash for Syngap

Worldwide

June 23-25

2022 DSF Family & Professional Conference

Fort Worth, TX

June 25

Dr. Perry presenting exclusively to Syngap1 families

Fort Worth, TX

July 11-13

World Orphan Drug Congress

Boston, MA

September 26

Global Genes Patient Advocacy Summit

San Diego, CA

October 8

Scramble for Syngap

Travelers Rest, SC

October 8

2nd Annual Caren Leib Gala

New Jersey

Oct 31-Nov 1

Epilepsy Awareness Day Expo

Anaheim, CA

November 2

Epilepsy Awareness Day Disneyland

Anaheim, CA

November 12

Sparks of Hope

Atlanta, GA

November 29

Giving Tuesday

Worldwide

December 1

Scientific Meeting hosted by SRF

Nashville, TN

December 2-6

AES & the 4th Annual Synapse Roundtable

Nashville, TN

Thank you to #UFDTech for your fundraiser today, check it out: https://www.youtube.com/watch?v=Whkborgb-90

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 53 of #Syngap10 - March 25, 2022

SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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SRF UK is taking off, support Trustee Ray’s fundraiser https://www.justgiving.com/fundraising/srfuk

SRF Cell Line project is working! https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments

2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 52 of #Syngap10 - March 21, 2022

s10e52 #Ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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Mike takes a break from all the updates to put things in perspective. This work is critical.

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 51 of #Syngap10 - March 14, 2022

s10e51 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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Post RDD -

Last day of Feb, b/c rarest day
What did we do?
Raised $25k!
Newsletter went out! Read and subscribe please https://twitter.com/cureSYNGAP1/status/1498256918371917824
Jess and Ray represented the Global Team at PWC/Edinburgh https://twitter.com/Cdnchick74/status/1498275297011056644
Jansen and Kimberly were shared, and that is a win for all of us.
https://variantyx.com/2022/02/25/jansens-story/
https://www.raredisease.org.uk/rduk-news/our-syngap1-story/
Announced #CouldItBeSyngap1 300+ already https://www.syngapresearchfund.org/post/syngap-research-fund-deploys-coulditbesyngap1-screening-tool-in-partnership-with-probably-genetic
Webinar madness!
Two down
https://www.syngapresearchfund.org/webinars/the-use-of-milk-exosomes-to-increase-the-expression-of-syngap1-expression-in-syngap1-mice
https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program -> https://syngap1.rare-x.org
Two to go
Saturday: https://www.syngapresearchfund.org/webinars/estrategias-para-quitar-el-panal
Thursday March 10th! https://www.syngapresearchfund.org/webinars/syngap1-service-dogs -> syngap.fund/julian -> https://secure.givelively.org/donate/syngap-research-fund-incorporated/service-dog-for-julian
SEVEN (7) New families this week
Six welcomed today in post https://www.facebook.com/groups/376862123195518/posts/939459816935743
One not on FB, but reached out after finding us… via this podcast! Yeah.

That’s right, there is a work outside of Facebook, we are on Twitter and LinkedIn and Tiktok and Youtube too!

Follow us everywhere with @cureSYNGAP1
We are doing a #followfriday on Twitter, so get on that, and meet some families and share your story… you never know where those go. https://twitter.com/cureSYNGAP1/status/1499751768435175429?s=20&t=CcoXMTECIG6MZVzRo-IXqg
And it’s good for studies. I could only talk about people who were in the public domain here: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant
Happy Birthday Kyle! syngap.fund/kyle Follow this channel: https://www.youtube.com/c/KelliKyle

Thank you to SAB and CAB

We have stellar advisors, check them out: https://www.syngapresearchfund.org/home/our-team/sab and https://www.syngapresearchfund.org/home/our-team/team-clinical-advisory-board
They are working hard looking at some of the seven grant proposal we received! It’s going to be a great investment in the future of our loved ones…

Sprint4Syngap!

2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!
Sign up now: https://syngap.fund/sprint2022
Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/

What else?

ORCA, thank you Kali, we have one person left and then we are locked and loaded for the next phase of that important project.
Great meeting with Overcome and partnering on Canadian grants.
One family, older, needed a neuro and we got them hooked up in a day. Love it.
One more survey, if you can for our friends at CNF: https://syngap.fund/cnf22

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 50 of #Syngap10 - March 5, 2022

s10e50 #sprint4syngap #CouldItBeSYNGAP1 #probablyGenetic #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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COOL START TO THE DAY

https://twitter.com/cureSYNGAP1/status/1496855893324926977?s=20&t=S7QHkcWewhu0hi-I_XlQBA Grief in convo with Kali about Rare Disease Diagnosis.

NEWS

We dropped the Zempleni Presser! How cool is this? Cool enough for the Exosome Industry News to write about it https://twitter.com/ExosomeRNA/status/1496907785535049729

Zempleni Webinar: Milk exosomes to increase the expression of SYNGAP1 in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni

More is coming soon. We have a few press releases in the hopper! One just made possible by a $70k donation from Unlock Defi https://www.unlockdefi.com/ thank you so much. Learn more about that via this interview we did in November https://www.youtube.com/watch?v=A840uoG1Wj0

PRESENTATIONS

Jess is presenting on SRF to the UK Community this weekend at Edinburgh, congratulations!

Marta gave a presentation at one of our Pharma partners all-staff for Rare Disease Day. Thank you to her and congratulations. It is powerful to talk about our disease.

The Data Sharing Panel was exceptional, if you missed it, watch the recording here: https://syngap.fund/data

Get your EEG Tracings! In EDF format. Just ask them at the lab, remember you have a right to your data in all Geographies.

AMAZING ASKS

Profs at Oxford and McGill have reached out with exciting opportunities. Rarebase is getting noisy. I’m told to expect a proposal from WCM and we have one from Finland. We need more funding… start talking to families now. We are asking Leon and Overcome to co-fund with us too.

FUNDRAISING

Suzanne in GA on Sparks of Hope Julie in NC on Scramble Nancy in NJ on Gala YOU where you are on Sprint eg. Tavilla

2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 49 of #Syngap10 - February 25, 2022

datasharing #biorasi #EEG #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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The Data Sharing Panel next week will be epic, don’t miss: https://syngap.fund/data Tweet: https://twitter.com/curesyngap1/status/1493282864263090181

Use you ICD Codes! F78.A1 if you want background: https://syngap.fund/icd10 - https://syngap.fund/icd11 - https://syngap.fund/F78A1 SRF Case Study here: https://ICDCodeRoadmap.org

Get your EEG Tracings! In EDF format.

Make sure you connect with us to be connected with the community, either on our reg page or on Facebook:

https://syngap.fund/fb goes to https://www.facebook.com/groups/syngap https://www.syngapresearchfund.org/families/connect-with-us

Zempleni Webinar: Milk exosomes to increase the expression of SYNGAP1 in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni

2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 48 of #Syngap10 - February 18, 2022

datasharing #biorasi #EEG #ICD10 #F78A1 #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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The ABN webinar was solid, watch it here: https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet

Remember the Poduri grant, here is the press release if you don’t: https://www.biospace.com/article/releases/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-children-s-hospital/

2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!

Sign up now: https://syngap.fund/sprint2022
Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/

Reminders:

Great webinar coming up: the use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 47 of #Syngap10 - February 14, 2022

trialdesign #braindonation #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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You can’t do this alone, don’t try. But do Plan. Lots of planning from SNTs to Brain Donation to Service Dogs.

HEADLINE: YOU CAN”T DO THIS ALONE, DON’T TRY

-Please don’t try to muscle raising a SYNGAP1 child, connect with the community, share tricks, joys and sorrows. We cannot do this alone.

PLANNING

One parent just asked how to think about planning for the future, here is what I said.

Part of the answer is a simple SNT (special needs trust) and Life Insurance payable to the trust, this is more affordable than you think.
The desire not to burden your other kids is natural, but not always helpful. I'd leave that up to them, in most of the families that I have had the privilege of getting to know... at least one sibling WANTS to step up, and plans their life accordingly. Look at Nancy, just watch https://syngap.fund/caren
Regardless of money, all of our kids will need state services throughout their life if we don't get a therapy into their brains (this is what SRF works on). And even then they will need support, but less. At this point, I would ask yourself two things:
3a. Are you going to live in this place for good? If so, get all over services in your state. The rules and realities vary considerably by state.
3b. If you are flexible, is there another place you could live and what are services like there? I've seen a few families take a deep breath, ask these questions and move.
Our kids don't get less complicated, I think you have signed up for Ciitizen, but whoever cares for your loved one will be so grateful that you have put all his medical records in one place. https://ciitizen.com/Syngap1
Get to know this community, we have a STRONG SRF Crew having other families close is huge. Not to mention they know the rules in your state (see #3a).

WEBINARS

-An Introduction to Autism BrainNet Thursday, February 10 @ 9 am PT/12 pm ET https://syngap.fund/ABN

-The use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni

SERVICE DOGS

SRF works with Meridus K9, if you are interested, please reach out to Cecilia! https://www.meridusk9.com/

FUNDRAISING IS ALWAYS IMPORTANT

https://syngap.fund/hopeforhadley $12.5k
https://Syngap.fund/joinforjackson $800
https://Syngap.fund/raylan

2nd Annual #Sprint4Syngap is coming April 30, 2022.

Sign up now: https://syngap.fund/sprint2022
Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/

THIS IS A PODCAST - SUBSCRIBE!

Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a

Episode 46 of #Syngap10 - February 7, 2022

servicedogs #braindonation #ciitizen #privacy #SYNGAP1 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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Old School Syngap10 - Lots of great content in 10 minutes. Fundraising. Blogs. Webinars. Patient stories. Ciitizen.

IT ALL TAKES MONEY

Emily’s Fundraiser #HopeForHadley https://secure.givelively.org/donate/syngap-research-fund-incorporated/hope-for-hadley
2nd Annual Sprint for Syngap is coming April 30, 2022.

WEBINARS

La intención comunicativa en SYNGAP1 el sábado 5 de febrero | 9am Miami / 3pm Madrid https://syngap.fund/intencion
An Introduction to Autism BrainNet Thursday, February 10 @ 9 am PT/12 pm ET https://syngap.fund/ABN
The use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni

BLOGS

Diapers: https://www.syngapresearchfund.org/post/diapers-pull-ups-for-older-kids-a-moms-experience
Missense: https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344

- https://www.genome.gov/sites/default/files/tg/en/illustration/missense_mutation.jpg

MUTATION STORIES

c.3583-6G>A Europe and East Coast, connected!
c.333del and c.490 C>T Facebook Groups
Data https://docs.google.com/spreadsheets/d/13dAPdXJnF-ST4lJnKrgxEJ_03e7shyXg7jwiqeXSR7c/edit?usp=sharing

CIITIZEN

Privacy https://ciitizen.com/privacy
Sign up https://ciitizen.com/SYNGAP1
Nobody does it better.

EXTRA CREDIT

Gene Fixers was VERY GOOD. Here is the replay. This is worth a listen. www.clubhouse.com/room/m26dGYr4?utm_medium=ch_room_xerc&utm_campaign=RgMbPQTckJlMoxenxVxCiQ-38225

REMEMBER

Raise funds at https://syngap.fund/give
Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a

Episode 45 of #Syngap10 - January 28, 2022

braindonation #specialneedsdiapers #missense #ciitizen #privacy #SYNGAP1 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

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Read Paediatric Neurologist, Clinician-Scientist, Laureate Professor Ingrid Scheffer, AO’s piece in the Lancet Neurology: https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(22)00002-3/fulltext

Here is the quote Mike read:

“It will not be feasible to design a gene therapy for each pathogenic variant of every genetic disease, so clever strategies, such as those mentioned earlier, will need to be developed to enable these life-changing therapies to reach a wide variety of patients.

The future of child neurology is bright—indeed, far more promising than at the turn of the 21st century. Many devastating diseases now have real hope of targeted therapies, which can cure not just one but all manifestations of the disease and offer the child and family the promise of a normal life.”

SRF article on IPSCs: https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments

SRF article on reading your genetic report: https://www.syngapresearchfund.org/post/understanding-your-genetic-report-with-syngap1-a-rare-disease

SRF article on VUS: https://www.syngapresearchfund.org/post/does-your-genetic-report-contain-a-variant-of-unknown-significance-vus-in-syngap1

REMEMBER Raise funds at https://syngap.fund/give

Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a

Episode 44 of #Syngap10 - January 21, 2022

missense #SYNGAP1 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

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Stoke Therapeutics & Acadia Pharmaceuticals are working on SYNGAP1

BIG NEWS! https://www.businesswire.com/news/home/20220110005334/en/

FIVE KEY LINKS - Dr. Kaye’s presentation - Listen to it again and again https://investor.stoketherapeutics.com/events/event-details/40th-annual-jp-morgan-healthcare-conference - AES 2018 Poster https://www.stoketherapeutics.com/wp-content/uploads/Stoke-Poster-Dec-1.pdf - STOKE Patent https://patents.google.com/patent/WO2017106377A1/en - #OneYearSooner - How we can make clinical trials happen faster https://www.syngapresearchfund.org/post/oneyearsooner - Sign up for Ciitizen - www.Ciitizen.com/SYNGAP1

SPREAD THE WORD Twitter.com/cureSYNGAP1/status/1480546972645793794?s=20

Linkedin.com/feed/update/urn:li:activity:6886314132866506753

Facebook.com/cureSYNGAP1/posts/946801809535615

WHO IS WHO AT STOKE https://www.cshl.edu/research/faculty-staff/adrian-r-krainer/ PhD Harvard 1986

https://www.linkedin.com/in/huwnash/ PhD Harvard 1997, EIR ATP since 2014

https://www.oligotherapeutics.org/officers/isabel-aznarez-ph-d/ PhD Toronto 2006

https://www.linkedin.com/in/barryticho/ MD PhD Chicago

https://www.linkedin.com/in/edward-kaye-0a46a710/ MD Loyola Chicago

COMPANIES Stoke https://www.stoketherapeutics.com/ $ACAD Acadia https://www.acadia-pharm.com/ $STOK

OTHER GREAT LINKS DSF on the Monarch https://www.dravetfoundation.org/wp-content/uploads/2020/04/Stoke-Community-FAQ-April-2020.pdf

It starts with Spinraza https://www.ninds.nih.gov/About-NINDS/Impact/NINDS-Contributions-Approved-Therapies/Nusinersen-Spinraza%C2%AE-%E2%80%93-Spinal-Muscular aka https://en.wikipedia.org/wiki/Nusinersen

Grant made in 2003, Phase 1 in 2011 (dec) FDA approval in 2016 (Dec) https://www.curesma.org/fda-approves-spinraza-for-sma/

From: https://www.bizjournals.com/boston/news/2018/01/04/ex-sarepta-ceo-takes-helm-of-genetic-disease.html Kaye said he was recruited by Stoke co-founder Adrian Krainer, with whom he previously worked at Genzyme before joining Sarepta in 2010. Krainer is perhaps best known for being an inventor of another “antisense” drug targeting a genetic disease, Biogen’s spinal muscular atrophy treatment Spinraza.

“He was one of the real originators of RNA therapy,” Kaye said. “I thought (Stoke) was at a point where it needed to be shepherded from preclinical development into the clinic. It was a really exciting opportunity.”

Stoke Origins: https://endpts.com/gene-therapy-startup-stoke-therapeutics-secures-another-90m-in-series-b-funding/ $40M from ATP in 2018. https://www.appletreepartners.com/portfolio#stoke-therapeutics

IPO June 2019 $163M/ https://www.spglobal.com/marketintelligence/en/news-insights/trending/OTV6RnpzTCGYyRs_gx1m7A2

REMEMBER Raise funds at https://syngap.fund/give

Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a

Episode 43 of #Syngap10 - January 14, 2022

StokedAboutStoke #ASO #SYNGAP1 #AcadiaPharma #StokeTx

F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

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How to tell your family about SYNGAP1

As you process your loved ones’ recent SYNGAP diagnosis, when do you tell your family? How?

When? As soon as you can!

How, well that’s what we talk about today:

This is a big deal, let’s not minimize it.
I need your help
1. Learn with me
2. Fight insurance with me
3. Help me rearrange my life
4. Help with my SYNGAPian or their siblings
5. Jump into my life, don’t give me space
Raise funds with me to help bring therapies and cure closer to reality
Raise funds at https://syngap.fund/give
Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a

Episode 42 of #Syngap10 - January 7, 2022

family #thetalk #F78A1 #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

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2021 by the numbers, 985 patients counted, exciting work ahead!

Mike quantifies the work of SRF in some statistics, it’s been three years: https://syngap.fund/2021numbers
The #SyngapCensus is at 985! https://syngap.fund/census
Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are at 154 in the US!
Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a

Episode 41 of #Syngap10 - December 31, 2021

phenylbutyrate #F78A1 #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

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Episode 40 of #Syngap10 - December 17, 2021

Dennis’ tweet: https://twitter.com/LalDennis/status/1469502987173310466
Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are over 150!
Clinical Trials link showing adult enrollment for Angelmans. https://www.clinicaltrialsregister.eu/ctr-search/trial/2019-003787-48/NL
ORCA Work, learn more about it: https://populationhealth.duke.edu/research/center-health-measurement/expanding-observer-reported-communication-ability-orca-measure
Learn about the Lighthouse: https://www.linkedin.com/posts/graglia_thelighthouse-activity-6877396385088471040-_ia_ & https://effieparks.com/podcast/episode-094-mike-and-nasha
Add to the schedule June 11, 2022 -- Million Dollar Bike Ride! https://www.milliondollarbikeride.org/
Emmitt got a #VNS https://twitter.com/SydneyStel/status/1470766587795972096
phenylbutyrate

-https://www.statnews.com/2021/06/03/parents-hoped-an-existing-drug-might-keep-their-kids-from-having-seizures-then-they-saw-the-price/

-https://www.biorxiv.org/content/10.1101/2021.12.08.471799v1.full.pdf

-https://www.clinicaltrials.gov/ct2/show/NCT04937062?cond=slc6a1&draw=2&rank=1

-Start at 40:40 https://vimeo.com/610301620

Raise some money! https://srf.salsalabs.org/srfdidyouknow
What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a

phenylbutyrate #MDBR #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

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Episode 39 of #Syngap10 - December 10, 2021

Isoform paper https://www.biorxiv.org/content/10.1101/2021.12.05.471306v1
Treatment one year sooner https://www.syngapresearchfund.org/post/oneyearsooner
Syngap merch https://www.syngapresearchfund.org/shop
SRF’s Blog https://www.syngapresearchfund.org/blog
Fundraise https://syngap.fund/give
Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1
What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10

TalentTuesday #volunteer #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

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Let’s make sure SYNGAP1 is cured in our lifetime. It’s up to us. Episode 38 of #Syngap10 - December 4th, 2021

Roundtable 3 #SRFRT3 was a great success, special thanks to all speakers.

The #FAST #Angleman meeting is incredible. https://cureangelman.org/events/gala2021

Raise funds for SYNGAP1

Facebook Fundraisers: http://syngap.fund/FBFun
Giving Tuesday Fundraiser: https://syngap.fund/gt21
What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10

F78A1 #FAST #Angelman #SRFRT3 #SyngapaseRT #Syngap1 #syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

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Support SRF this GivingTuesday! With guest host, Caitlin Kaspar, Syngap sibling, nonprofit professional

Getting diagnosed with Syngap1 as an adult
It’s a fact; nonprofits have overhead
SRF founders cover all overhead! www.syngapresearchfund.org/post/7-reasons-smartdonors-fight-syngap1-via-srf
SRF is all about transparency syngap.fund/finance
SRF has 600K out in grants in 2021 syngap.fund/grants
End of Year Giving
Shop and donate at Amazon Smile bit.ly/SRF_Smile
GivingTuesday Nov 30 syngap.fund/gt21
End of year giving letter created for families to share syngap.fund/eoy

Episode 37 - November 26th, 2021 https://www.syngapresearchfund.org/syngap10-podcast

overhead #ciitizen #givingtuesday #adultswithdisabilities #leadership #GlobalGenes #minted #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

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Top 5:

10 to go! https://syngap.fund/NHS or https://www.ciitizen.com/syngap1/
https://syngap.fund/gt21
https://syngap.fund/rt3
Studies:
ORCA - Full
FRAZIER - email Corey@syngapresearchfund.org
SIGN UP ALL ONLINE https://syngap.fund/adults and email Lauren@syngapresearchfund.org

Old Guard:

Aaron, Olga, Rebecca,
Virginie, Hans https://www.syngapresearchfund.org/post/meet-the-globalvillage-of-syngapleaders by Jo!
Marta, Vicky, Peter, Kali, Summer
Pavel, Nancy, Sydney
Tavillas
Lauren Perry

New wave of leaders:

Alexis https://syngap.fund/naya
Corey Baysden
Jen & Dan Robert
Suzanne Jones
Caitlin Kasper
Ashley Frye

GET YOUR CARDS! Minted.com FUNDRAISESYNGAP

Episode 36 - November 19th, 2021 https://www.syngapresearchfund.org/syngap10-podcast

grateful #studies #ciitizen #givingtuesday #SynapseRT #adultswithdisabilities #leadership #careaboutrare #GlobalGenes #minted #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

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Episode 35 of #Syngap10 - November 12th, 2021

HOLIDAY GIFTS - GET SRF #MERCH

5 days left to order Hoodies, T-shirts, other gear:

https://syngap.fund/LHC or https://syngap.fund/BKC
Get your holiday cards at Minted.com and use code FUNDRAISESYNGAP

FOUR STUDIES are enrolling now/soon:

Dr. Andrade - Watch the video and let us know if you have an adult who would like to participate. https://youtu.be/WyhRDePe0Jc
Dr. Frazier - Reach out to info@syngapresearchfund.org to participate. Here is the webinar. https://www.syngapresearchfund.org/webinars/improving-the-assessment-of-syngap1-by-creating-online-measures-for-parents-and-patients
ORCA - Once we get the greenlight from FDA we will start recruiting. Here is a link with more info: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant
We have less than 20 spots left in this cohort of Ciitizen, sign up in the next 10 days: https://Ciitizen.com/SYNGAP1

CRYPTO

Jack Shi interview on

https://twitter.com/cureSYNGAP1/status/1459165110862168066?s=20

https://www.linkedin.com/feed/update/urn:li:activity:6864944054384279552

https://www.facebook.com/cureSYNGAP1/posts/910882546460875

Donate Crypto to SRF https://syngap.fund/block

HELP US RAISE FUNDS FOR SYNGAP

Facebook Fundraisers: http://syngap.fund/FBFun
Giving Tuesday Fundraiser: https://syngap.fund/gt21
What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10

NFTs #crypto #unlockdefi #Bonfire #minted #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

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Episode 34 of #Syngap10 - November 5th, 2021

3rd Annual Synapse Roundtable will be Dec 3, 2021, sign up at https://syngap.fund/rt3
We have 22 spots left in this cohort of Ciitizen, sign up in the next 10 days: https://Ciitizen.com/SYNGAP1

-Three more studies are enrolling now/soon:

-Dr. Andrade - Watch the video and let us know if you have an adult who would like to participate. https://youtu.be/WyhRDePe0Jc

Dr. Frazier - Reach out to info@syngapresearchfund.org to participate. Here is the webinar. https://www.syngapresearchfund.org/webinars/improving-the-assessment-of-syngap1-by-creating-online-measures-for-parents-and-patients
ORCA - Once we get the greenlight from FDA we will start recruiting. Here is a link with more info: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant
Great newsletter, make sure to read it: https://syngap.fund/Nov
Giving Tuesday Fundraiser: https://syngap.fund/gt21
ICD-10 Code: https://syngap.fund/F78A1 ICD11 Effort: https://syngap.fund/ICD11
What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
Sign up for this 10 minute #podcast #SYNGAP10 herehttps://syngap.fund/10
Happy GC Awareness Day!

SynapseRT #F78A1 #ICD10 #ICD11 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

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Episode 33 of #Syngap10 - October 29th, 2021

-Caren Leib Gala was an epic success - #SRFGala - syngap.fund/gala

-Partnering with Dr. Danielle Andrade in Toronto who is including SYNGAP1 in gene study and is looking for at least 30 families with adult Syngapians. It’s a huge opportunity. https://www.uhnresearch.ca/researcher/danielle-andrade

Be hopeful- there is a lot of progress happening below the surface and we have more coming! syngap.fund/grants
Support SRF - syngap.fund/give
What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10

F78A1 #ICD10 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics #SRFGala

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Happenings

Tomorrow is the GALA https://syngap.fund/gala

In two Thursdays! Investigating the functional single cell biology of SYNGAP1 pathways Thursday, November 4th Register: http://Syngap.Fund/mc

NOW (Crypto Art Auction) https://syngap.fund/sungap

ICDs & Medical Care - Corey ICD-10 issue https://syngap.fund/F78A1 - ICD-11 is happening too! Not kidding: https://www.syngapresearchfund.org/post/icd-11-is-coming-soon-and-we-need-your-help - Medical Considerations Guide is up! www.syngapresearchfund.org/families/doctors

Thank yous

Thank you to Ashley and Forbes for giving SRF some air time!

https://www.forbes.com/sites/kevindowd/2021/10/20/after-helping-pfizer-speed-up-its-vaccine-trials-saama-strikes-a-430-million-deal-with-carlyle/

Thank you to Ira for the opportunity, longer interview today on Potential, Progress, Possibilities, on https://syngap.fund/mike or directly at https://youtu.be/RGnStUPmUkI
Spectrum for featuring two SRF Grantees work. https://www.spectrumnews.org/news/autism-linked-gene-syngap1-molds-synaptic-plasticity-learning/
Thank you to Jansen’s parents for going big on this fundraiser: https://syngap.fund/Jansen $90k+

Data Deadlines - Sign up for #Ciitizen, we have until November 15 to be in the next release: https://www.ciitizen.com/syngap1

December 3rd is the third annual SYNAPSE Roundtable #SynapseRT https://www.Syngap.fund/RT3

etc.

What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10

F78A1 #ICD10 #ICD11 #Syngap1 #SYNGAP #SUNGAP #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

Episode 32.

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Episode 31 of #Syngap10 - October 15th, 2021

We just gave BCH a large grant to work on #SYNGAP1 #ciitizen data, thanks to all our donors, press release: https://www.syngapresearchfund.org/post/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-childrens-hospital
Sign up for Ciitizen, we have until November 15 to be in the next release: https://www.ciitizen.com/syngap1
Huge thanks to UFDtech for the #UFDcure Cannonball, $151k! https://www.justgiving.com/fundraising/ufdcure
Consider donating to our fundraiser for RareBase syngap.fund/RB.
Oct. 23rd is the gala & auction in NJ. Dr. Ben Prosser, SRF Director Nancy Kessler and co-founder Ashley Evans will be speaking. syngap.fund/gala
December 3rd is the third annual SYNAPSE Roundtable #SynapseRT https://www.Syngap.fund/RT3
What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
Sign up for this 10 minute #podcast #SYNGAP10 here syngap.fund/10

F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

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Cannonball’s last day TODAY. Three dads driving across the US. syngap.fund/cb
Family fundraiser: syngap.fund/jansen
Consider donating to our fundraiser for RareBase. syngap.fund/rb
SYNGAP1 Patient Voice Publication. syngap.fund/pvp

F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

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Go see the SRF TikTok account: syngap.fund/tiktok.
Find us everywhere at our handle @curesyngap1.
It's October 1! #SYNGAP1 ICD-10 code F78.A1 is live TODAY. Ask all your clinicians to start using it. syngap.fund/F78A1
Cannonball 5 DAYS . 3 dads driving across the US syngap.fund/cball #UFDcure.
Consider donating to our fundraiser for RareBase syngap.fund/RB.
SYNGAP Census! There are 883 diagnosed Syngapians worldwide. This is +75 in the last 3 months. Learn more at syngap.fund/census.
Medical Considerations Guide is up! www.syngapresearchfund.org/families/doctors.
Oct. 23rd is the gala & auction in NJ. Dr. Ben Prosser and co-founder Ashley Evans will be speaking. syngap.fund/gala
October Newsletter: read it here: syngapresearchfund.org/news.
Sign up for this 10 minute #podcast #SYNGAP10 here syngap.fund/10

This was Episode 29 of #Syngap10 - October 1st, 2021

F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

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Correction: Last week, reminder, we are here to clear the path for whomever wins, we don't care who wins we want this race to be won and easier to finish for everyone.
Big thought: Complex Population, about to get more complex, "Post-Intervention"
Sign up for Ciitizen: https://www.ciitizen.com/syngap1/
Remember that Duke presentation, here it is: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant/
Next week, lets' get connected Global Genes Conference https://globalgenes.org/event/rare-patient-advocacy-summit/
Simons Searchlight in Spanish, English is still being scheduled: https://syngap.fund/SimonsSearchlight/
Interesting paper on #SYNGAP1 and Sleep, the best part is the suggestion at the end to use this for a clinical endpoint! https://twitter.com/cureSYNGAP1/status/1439825860245090306?s=20
Not Alone Coloring Book! https://syngap.fund/notalone
Cannonball 11 DAYS . 3 dads driving across the US https://syngap.fund/cball #UFDcure
Go to the GALA! 29 DAYS! https://syngap.fund/gala
Easy to do https://syngap.fund/GNP
Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR
Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10
What is #SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1

This was Episode 28 of #Syngap10 - September 24th, 2021

F78A1 #ICD10 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

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Rarebase (explained) and also, they helped us find another another family. Here is the press release: https://www.rarebase.org/post/rarebase-launches-a-neuroscience-drug-discovery-platform-collaborating-with-15-rare-disease-patient-organizations #FUNCTION #RareBase
Cannonball 18 DAYS did you see this article? https://thealmanac.net/news/upper-st-clair-resident-plans-to-livestream-cross-country-ride-for-charity/article_09570da8-119f-11ec-b1a1-fbe2d9f2526a.html 3 dads driving across :us: and focusing on endurance, can you sponsor? https://www.syngapresearchfund.org/cannonball #UFDcure
Billy shoes: 10% off with https://Syngap.Fund/Billy watch our interview at https://youtu.be/mAz1PT_JziE
Company conversations: Q-State Pipeline
Reminder, we are here to clear the path for whomever wins, we don't care who wins we want this race to be won.
Have you bought your tickets to the Gala yet? 35 DAYS! https://www.syngapresearchfund.org/gala
San Filippo has a 10 min podcast and we love it. Honestly, it's been a great way to connect and I urge everyone to try it out.

This was episode 27 of #Syngap10 - September 17th, 2021

SYNGAP1 #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAP #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics #epilepsy #autism #geneticcounseling #raredisease #Podcast #SYNGAP10

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SYNGAP10 - Episode 26 - September 10th, 2021 - The future is coming, let’s build it!

A wonderful letter from a parent “on an island” that reminded us of the https://Syngap.fund/lens with http://joashline.com/ made my week.

Digital Lighthouse concept in the 12 Commandments Interview with Effie: https://effieparks.com/podcast/episode-094-mike-and-nasha

First principles, we are here to change the future and help each other.

The future is coming: Invitae & Ciitizen

Read this FAQ https://www.ciitizen.com/announcement/
Sign up for Ciitizen https://ciitizen.com/syngap1

We make the future by raising funds and building community, that is happening twice over with #UFDcure Cannonball & Care Leib Gala.

https://syngap.fund/cball -> https://www.syngapresearchfund.org/cannonball 25 Days,
https://syngap.fund/gala -> https://www.syngapresearchfund.org/gala 43 days (19 for tix)

Two big announcements next week!

Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR

This was episode 26 of #Syngap10

What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1

F78A1 #ICD10 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

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-That incredible webinar https://Syngap.fund/ana was a source of hope!

-The newsletter came out yesterday; it’s really good: https://syngap.fund/sept

-Families in the US, UK, Canada & Australia are reminded to sign up for the largest collection of SYNGAP1 data on earth for free: https://ciitizen.com/syngap1

-Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR

-Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10

-What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1

This was episode 25 of #Syngap10 - September 3rd, 2021

F78A1 #ICD10 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

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SYNGAP10 - Ep. 24 - August 27th, 2021 - Two conversations with the same conclusion...

Next Webinar: https://Syngap.fund/ana Sept 2 at 10 am. PST

Two conversations with the same conclusion, sign up for Ciitizen https://ciitizen.com/syngap1

Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR

What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1

Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

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Episode 23 of #Syngap10 - August 10th, 2021

Eduardo webinar was amazing, it's on FB Live and we will have the YouTube up soon. Remember to register for Ana in September https://Syngap.Fund/Ana

SYNGAP1 is on the Compassionate Access List (CAL) for the SSA. This just happened and it's due to the work of one of our families, thank you! https://Syngap.Fund/SSA

Great scientist conversations this week. * New researcher looking into SYNGAP1, connecting with local families * Rockstars reviewing a multi-gene grant * One senior scientist called to say he's got Fish and we should let people know.

Stories I will tell to help bring home how not simple this life is. * Jadyne https://www.facebook.com/whatweneedyesterday * Kyle https://www.youtube.com/channel/UCCbBNmkHLwba--nQ8LX0WCQ * Carter https://www.youtube.com/watch?v=f6DsFUz-6HM * Emmitt https://www.youtube.com/watch?v=tOampbK0uy0 * Amelia https://www.youtube.com/watch?v=gvwJqF_kuBI

What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1

Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR

Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

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Episode 22 of #Syngap10 - August 13th, 2021

Webinars

-https://Syngap.fund/eduardo August 19 at 10 am PST

-https://Syngap.fund/ana Sept 2 at 10 am PST

Mugs mugs mugs

-https://twitter.com/AAledo/status/1426207246149636099

Blog: Genetics article is a must read for new families
https://www.syngapresearchfund.org/post/what-should-i-ask-in-my-genetics-appointment-for-syngap1
Genetic Counselors
Tell me about your experience
What do they need to know?
Hug them
Ciitizen
Count 110 + 12, let's keep going, 28 spots left!
Panel https://www.facebook.com/cureSYNGAP1/videos/221755526409431/
Sign up https://ciitizen.com/syngap1
Cure
Rarebase article https://www.rarebase.org/post/what-does-it-mean-to-find-a-cure-for-a-disease
See episode 19. Yes, we need to reach for this
We may not know what is coming, but we need to work for it
One Upon a Gene
94 https://effieparks.com/podcast/episode-094-mike-and-nasha
41 https://effieparks.com/podcast/episode-41-syngap-research-fund
Cures go through clinical trials. Get ready: https://syngap.fund/ctr - $36k!

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SYNGAP10 - Episode 21 - August 2, 2021 - Connection is everything!

-Thank you for all the connections this week!

-San Diego with the Harding Family

-https://www.facebook.com/groups/SyngapResearchFund/posts/810210336527359

-New Jersey with Nancy Lieb Kessler

-https://www.thesandpaper.net/articles/genetic-testing-solves-a-familys-medical-mystery/

-Ashley in Boston

-https://twitter.com/SYNGAP1mom/status/1420457356836495360

-Juan and Vicky did a wonderful video!

-https://www.youtube.com/watch?v=T_W_3IuJCrI

-https://fb.watch/78guUyW3pp/

-Support our current effort at https://syngap.fund/CTR

-Subscribe to this podcast at https://syngap.fund/10

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SYNGAP10 - Episode 20 - July 23, 2021 - Great things afoot! Join us.

Thank you to you know who you are, & welcome to three new families this week!
https://syngap.fund/CTR is happening, worked on data this week
https://ciitizen.com/SYNGAP1 sign up, we are filling cohort 3!
Next grant on drug discovery is already in the works
A few announcements
- Wed July 28 - San Diego, see you next week
- Sunday August 1 - Gathering in Jersey
- Tuesday August 24 - UC Davis meet the researchers
- Interested in getting a service dog? https://www.meridusk9.com
Make sure you track us on social: @cureSYNGAP1 on all platforms
Look for a cool podcast on August 5th with Mike & Nasha, be sure to follow OUAG: https://effieparks.com/podcast

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-Working with Duke on the ORCA, let us know about your SYNGAPian here https://syngap.fund/comms

-Ciitizen, we are in the 3rd cohort, sign up quick: https://ciitizen.com/SYNGAP1

-Still fundraising for https://syngap.fund/ctr

-All social media is now on @cureSYNGAP1

-https://Facebook.com/cureSYNGAP1 -https://Twitter.com/cureSYNGAP1 -https://Linkedin.com/company/curesyngap1 -https://Instagram.com/curesyngap1 -https://Tiktok.com/@curesyngap1 -https://YouTube.com/c/@cureSYNGAP1 -Yep, we said it, and we mean it.

-Subscribe to this podcast at https://syngap.fund/10

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SYNGAP10 - Ep. 18 - "Seizures, Communication, Behavior, Sleep, Other" Is that right?

https://Syngap.Fund/CTR - $26k and growing.
Birthday Fundraisers, $25 per $250, we will find and thank you!
https://Syngap.Fund/blog - Make sure to read the latest on variants
Events: Webinar & Meetups
- https://syngap.fund/webinar - Next week, Saturday, July 17th @ 9 Pacific.
- San Diego Family Meetup - SRF Syngap Meet-Up, July 28th @ 3 pm, Details in SRF NA Group.
- Beach Haven, NJ Meetup - August 1st 11-5, details in the SRF NY Group. Caren will come! https://Syngap.Fund/caren t-shirts.
121 Warriors - https://syngap.fund/warrior - Egypt, Texas, Quebec & Argentina. Great work.
We are working on a poster for a meeting, stay tuned, we are learning it’s not easy to explain this life… a couple of stories
- Order of Symptoms
- 8 weeks from Seizure to Dx in Ireland, wow, 3.5. Great work Temple St, Dublin.
- Meds overload. Always check levels and loop with doctors…

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SYNGAP10 - Episode 17 - 2 July 2021

Thanks for listening, now please share!
Newsletter: https://Syngap.Fund/July
Census: https://Syngap.Fund/Census Honestly, it’s low. Remember Covid.
Frazier: 7/17 9 AM https://www.syngapresearchfund.org/webinars/improving-the-assessment-of-syngap1-by-creating-online-measures-for-parents-and-patients
Palma: 8/19 10 AM https://www.syngapresearchfund.org/webinars/interpretation-of-syngap1-variants-srf
Just talking yesterday to someone who redid testing: Genetic Testing needs to be updated every few years.
July 1 paper: “We strongly recommend that ES/GS be considered as a first- or second-tier test for patients with CA/DD/ID.” https://www.nature.com/articles/s41436-021-01242-6
Time for some fundraising: https://Syngap.Fund/CTR Deal done, Board reviewed. Post-docs staffed. Let’s make it happen… everyone can help.
Remember, SRF is the best deal ever: https://syngap.fund/smartdonors
Subscribe at https://syngap.fund/10

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SYNGAP10 - Episode 16 - 25 June 2021

REMINDER - Put your own mask on first.
THANKS - #syngapLOVE photos were great, check out our header image
THANKS - DISORDER Channel - Thank you for Dad’s mention. https://www.facebook.com/rarediseasefilmfestival/videos/924558798278718
GIVE - https://Syngap.Fund/CTR - We need to raise some money folks!
WORK - Fundraisers are getting real, need to organize some events, email Peter@syngapresearchfund.org
PROGRESS - Ciitizens got gift cards! Yeah, sign up now. Ciitizen.com/SYNGAP1
STORY - ICD-10 Story of two codes: F78.A1 is our one and only code. https://syngap.fund/icd10

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SPLASH4SYNGAP is on MONDAY.

3 days until June 21st!
Take photos with the flyer https://syngap.fund/love = https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap
Use hashtag #SYNGAPlove & #Splash4SYNGAP

DSC & BCH - It’s go time! Let’s raise some funds. Read the blogs * Syngap.fund/biomarker = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development * Syngap.fund/BCH = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development

ICD-10

EveryLife case study! https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13
Dravet Business Cards. Copying is great! Copy us.
ONE YEAR SOONER: Reminder why all this matters https://www.syngapresearchfund.org/post/oneyearsooner

ORCA: Via CB we are in. Stay tuned here. SYNGAP1 is one of the validation teams * Rett Press Release https://www.prweb.com/releases/rett_syndrome_research_trust_announces_development_o[…]on_ability_of_individuals_with_rett_syndrome/prweb18012275.htm * DUKE FDA GRANT https://populationhealth.duke.edu/news/orca-measure-expands-more-neurodevelopmental-diseases

GRANDPARENTS group is going strong * Tell your parents about https://syngap.fund/grand = https://www.syngapresearchfund.org/post/loving-a-grandchild-with-syngap1 * Also had the c.333del (6!) and regular wednesday bit.ly/SRFHH at 5 PM Pacific.

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We are seeing some great photos! https://Syngap.fund/Love which is https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap #SyngapLove

COMMUNITY

- I don’t want the questions. It’s hard to go out in public, our kids are so damn cute.

Connecting on a gene/geno pheno. https://www.syngapresearchfund.org/post/understanding-your-genetic-report-with-syngap1-a-rare-disease

BLOGS

- Check out life expectancy blog. https://www.syngapresearchfund.org/post/whats-the-life-expectancy-of-someone-with-syngap1

- SRF Equine Therapy Articles, http://syngap.fund/horse which is https://www.syngapresearchfund.org/post/hippotherapy-equine-therapy-syngap1

UPENN

- Thx Dr. Heller for your impressive progress report!

- Speaking of UPenn! #MDBR21SRF tomorrow! Thanks Aaron Harding and support the team at Syngap.Fund/GIVE

- Coba Press Release https://syngap.fund/coba2

- #Rarecast with Nasha Fitter of Ciitizen. https://syngap.fund/RCNF

- Sign up for Ciitizen: Ciitizen.com/SYNGAP1

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SYNGAP10 - Ep. 6 - 16 April 2021

SRF Newsletter yesterday, make sure you sign up!
- SSB is off and running.
- Webinars, another tomorrow in Spanish
- Sprint next Saturday - April 24th
- Celebrating Caren is now live and about to go on the circuit thanks Nancy, Daniel & illumina
SSB - Seizure sleep and behavior
- Do the surveys! Links are in the newsletter and here:
- syngap.fund/ssb-Behavior
- syngap.fund/ssb-sleep
- syngap.fund/ST
STXBP1 has joined ciitizen - Now they are joining SYNGAP1, FOXG1 Tess Research (slc13a5), Rett SCN2A via Praxis, SCN8A & BPAN
Tom Frazier (Autism Speaks, CSO) has completed Phase 1 of NET, now working on the tool. He was just on the Today Show 2 weeks ago. - Here we are partnering with Malan, PTEN & ADNP.
Sprint4Syngap is going strong: $69k+! Way to go #TeamMyla!
FondoSyngap.org is live, great work Vicky & Marta!
We asked for an ICD10 code over a year ago - CDKL5, Dravet, Angleman's all have one, what's going on?
You’re not alone, reach out: Mike@SyngapResearchFund.org

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Birthday Fundraiser was a great success! https://syngap.fund/m46
Make sure to watch this video from Brett - https://youtu.be/pp9_hTvr2eM
ILOVE SOMEONE WITH SYNGAP1 https://syngap.fund/love aka https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap
Learn more at SyngapResearchFund.org

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SynGAP10 - Ep. 12 - 28 May 2021 - IPSCs, Ciitizens, Sleep Webinar, NET Webinar, Birthday Party on FB!

Subscribe to the podcast! https://syngap.fund/10 = https://www.syngapresearchfund.org/syngap10-podcast

We are making IPSCs! https://syngap.fund/ipsc = https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments

Join the largest SYNGAP1 study on earth https://syngap.fund/nhs

Learn more at https://syngap.fund/rarex

Watch our Webinars! https://syngap.fund/webinar = https://www.syngapresearchfund.org/families/resources/webinars

- https://syngap.fund/aten Thurs June 10th @ 10 PST

- https://syngap.fund/drtf Sat July 17th @ 9 PST

- Learn more at https://syngap.fund/FrazierPR

- and https://syngap.fund/Frazier

My birthday fundraiser, please give, I will match every dollar: https://syngap.fund/m46

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SYNGAP10 - Episode 11 - May 21st, 2021 - We must be hopeful - and it makes sense to be so.

Understand where science is today with Erik, https://podcasts.apple.com/us/podcast/rarecast/id954082143?i=1000519319382
Kyle’s tweet: Fundraising raises awareness. https://twitter.com/kyleabryant/status/1394413673016446981
Effie’s Once Upon a Gene episode: It’s Ok that your not OK https://effieparks.com/podcast/episode-080-megan-devine
My birthday fundraiser: https://www.facebook.com/donate/465934367824427/4350219688321412/
List of things you can do for SRF: https://Syngap.fund/clicks
Remember especially to tell us about the doctors you have seen via https://Syngap.Fund/docs
https://SyngapResearchFund.org

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SYNGAP10 - Ep. 10 - 14 May 2021 - Scales, Grands, Ciitizens, Kayo, iPSC

Validated Scales
- Congrats to the ORCA Team at Duke https://syngap.fund/orca
- Join Dr. Frazier to learn more about the NET www.syngapresearchfund.org/families/resources/webinars
Grand parents article https://syngap.fund/grand
- Thank you Barbara for this article https://www.syngapresearchfund.org/post/loving-a-grandchild-with-syngap1
- Join the Group there is a link in the article - Peer connection is so key
Ciitizen
- US sign ups continue! Every patient matters/. https://www.ciitizen.com/syngap1/
- International is open! Same link, but you must collect and upload.
Ashley Evans, the co-founder of SRF, gave an interview with Kayo - https://Syngap.fund/Kayo
IPSCs - We are in the home stretch of accelerating treatments via making iPSCs available

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In this episode, Mike reflected on a conversations with and questions from SYNGAP parents who have responded to previous episodes of SYNGAP10. As usual, it was packed.

Thanks to DISORDER for listing SYNGAP10 as one of the best Rare Disease podcasts. We are honored. https://www.rarediseasefilmfestival.com/rarediseasepodcasts
Reflections on conversation with parents, especially the parents of Adult SynGAPians.
We had a great webinar this week with Lori Unumb about ABA, Autism and Advocacy, you can view it on our webinars page https://www.syngapresearchfund.org/families/resources/webinars
Next week we will have a great webinar with Prof. Haas of UBC about missense mutations. Don't miss it. https://www.syngapresearchfund.org/webinars/functional-assessment-of-missense-variants-of-syngap1-kurt-haas
Ciitizen continues to grow, sign up at https://Ciitizen.com/SYNGAP1
Mike answered a great question about cost and access. Explaining why we are hopeful that payers will support our therapies.

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SYNGAP10 - Episode 8 - BREAKING NEWS This episode is an absolute must. Don't miss it.

- Reminder that #SSB30 is happening now, the first pharma sponsored study on #ciitizen. If you are enrolled in Ciitizen, start doing your seizure tracker today: 🔗 https://Syngap.Fund/ST

- If you have not yet signed up for Ciitizen, there is still time, it's free: https://www.ciitizen.com/syngap1/

- 🚨 Breaking: We have reason to believe that we will get an ICD-10 code in June, effective 10/1/21. This is a big deal. Background link: https://www.syngapresearchfund.org/post/syngap-could-have-an-icd-10-code-f78-a1-as-soon-as-next-year Referenced link from podcast: https://www.cms.gov/medicare/acute-inpatient-pps/fy-2022-ipps-proposed-rule-home-page

Sprint4Syngap raised $122,500+. Huge thanks to everyone. Two great videos of the community building that took place are:

Colombia 🇨🇴 https://youtu.be/4jYGJJnbLf8 Boston https://youtu.be/edlfSW1kvKE
Welcome to 4 new families just diagnosed in the past week. 🤯
If you want to support SRF, call us, there is some much good work to do!

This is a podcast, sign up via your favorite service or watch previous episodes at: https://www.syngapresearchfund.org/syngap10-podcast

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Syngap10 - Episode 7 - 23 April 2021

Syngap.Fund/Sprint * We have raised $104k, so far! Look for the #sprint4syngap tomorrow! * Thanks to Henry Anderson of the Pats for a shoutout!

The fund will go to an upcoming grant at BCH * EEG Biomarker work * Analysis of Ciitizen data into a study

Ciitizen either sign up ciitizen.com/SYNGAP1 or join the survey syngap.fund/ST We had meetings with CB, PMC, ELCC & REN this week. Help SRF by going to syngap.fund/clicks and tell us about your syngap.fund/docs

Reach out to us if you want to Volunteer at SyngapResearchFund.org

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SYNGAP10, episode 5, 9 April 2021 * Biomarker EEG work - very exciting * IPSCs - Prime editing, Base editing, tRNA etc. Based on Ciitizen data! * SSB30 Webinar! Check it out on April 15th. https://syngap.fund/ssb Seizure, Sleep & Behavior * Ciitizen 103 signed up, 8 are VUS, 95 spots used, 5 TO GO. Sign up now: Ciitizen.com/SYNGAP1 * CNF Caregiver survey, due April 23rd. https://syngap.fund/cnf * Kids don't get Dx'd, families do. Grandparent article who wants to talk to Barbara? https://syngap.fund/grand * Sprint! Bakers dozen 13 groups over $1k! 62K+ https://syngap.fund/sprint * Reminders: Enzo 8, Brazil, was our Warrior this week. http://syngap.fund/warriors * Also two webinars coming up http://syngap.fund/webinar GI on 4/22 and Advocacy on 5/6.

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SYNGAP10, episode 4, 2 April 2021 starts with incredible news about a forthcoming study.

Ciitizen survey pre-trial is signed! Coming soon, look for an email. If you have not joined, ciitizen.com/SYNGAP1
SyngapCensus = 762
Caren movie is up - great work on subtitles
This week alone - 2 companies, 2 labs, 1 wed warrior Kyle from ohio, 15 - One amazing Webinar
Sprint4Syngap - We are doing well.
Newsletter - Board announcement. Need some volunteers to write the newsletter!

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Webinars: Jo, SRFCC1 and so many others are up our beautitful YouTube channel Syngap.Fund/YouTube for the old ones Syngap.Fund/Webinar for the new ones. Warriors: Do you read them? Is your SynGAPian amoung them? SynGAP.Fund/Warriors Work: Do you have time to help? Know a filmaker. Caren subtitles: we are working on them. Sprint4Syngap: we're uping the goal to $100k, we can do this.

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Check out the Eat. Sleep. Cure. Mug, love it!
Sprint4Syngap is going well, thanks to leading families and teams.
Lots of webinars coming soon, don't miss next week with Jo syngap.fund/teendx
Sign up for Ciitizen.com/SYNGAP1
Cell lines and biobanks.
E4 sensors to researchers!
CNF profiles our support group.
Getting the next board together.
Praxis earnings call
Wahoodatt Fishing is awesome, check them out! https://wahoodatfishing.com/
SRF joins the American Brain Coalition.

All in 10 minutes!

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Mike's first episode! A quick update on the week in SYNGAP1, what the SynGAP Research Fund did this week on behalf of families.

Engaged with a new BioPharma company interested in starting a program on SYNGAP1.
Connected ANOTHER company with CIITIZEN.com/SYNGAP1 so that they can use the data we have to do a trial as quickly as possible.
How to sign up for CIITIZEN.com/SYNGAP1
How #Sprint4Syngap is going
A preview of some work we are doing on drug discovery with Worms and Fish
A preview of work we are planning on EEG Biomarkers
Why biomarkers matter

Learn more at www.SyngapResearchFund.org

SynGAP10 weekly 10 minute updates on SYNGAP1 (video): Recent Episodes

Syngap Research Fund, 501(c)(3)

ForAda curesyngap1.org/forada is over $104k of $10k

4Ford curesyngap1.org/4ford is over $20k of $20k

Future4Ford. 2Q26 #SYNGAP1Census = 1,806 Patients (+45) $CAMP #ValproateDemandBetter #S10e212

Future4Ford! Already at $3,500+! Share. Thank you to the Family.

ThisIsOursToLose & #BurdenHopeProgress watch #S10e208 https://curesyngap1.org/podcasts/syngap10/tony-update-thisisourstolose-more-great-results-from-camp4-nightofimpact-in-9-days-s10e208/

NightOfImpact was 15 Days ago!

ThisIsOursToLose - Three steps to engaging friends with CURE SYNGAP1.

CompetitionIsGoodForThePatient

S10e123 https://curesyngap1.org/podcasts/syngap10/the-more-we-own-our-eegs-the-sooner-we-get-a-biomarker-simple-and-remember-to-get-dinner-tickets-for-the-conference-s10e123

S10e

RareDiseaseDay Talks

NaturalHistory means how this disease progresses. Reminder: We have only been at this for 17 years, first patients were identified via Hamdan, 2009. https://pubmed.ncbi.nlm.nih.gov/19196676/

SynGAPCensus = 1,707 https://curesyngap1.org/blog/syngap1-census-2025-update-32-q4-2025-1707/

20Posters Speaking of publications, I talked about 16 posters at AES this year and shared on LI, but I was wrong in the responses I realized we are up to 20! https://www.linkedin.com/posts/graglia_syngap1-curesyngap1-activity-7408291479187755008-rMru

CyberMonday, December 1, 2025. Week 49.

SyngapCenus 1,675 https://curesyngap1.org/blog/syngap1-census-2025-update-39-q3-2025-total-1675/

FOXG1 Q04.8 https://www.foxg1research.org/news/foxg1-syndrome-icd-10-code

Kabuki Q87.0

USP7 Q87.87 https://www.linkedin.com/posts/foundation-for-usp7-related-diseases_were-proud-to-share-an-important-milestone-activity-7375555189539348480-77n3

CTNNB1 Q87.88 https://www.linkedin.com/posts/ctnnb1_ctnnb1-connectandcure-ctnnb1syndrome-activity-7376633308836683777-fRYC

SCN2A QA0.0101 https://www.scn2a.org/from-advocacy-to-action-scn2a-now-has-its-own-icd-10-code/

CACNA1A QA0.0102 https://www.linkedin.com/posts/cacna1a-foundation_huge-milestone-for-our-cacna1a-community-activity-7358883822282653696-xWr5

SLC6A1 QA0.0131 https://www.linkedin.com/posts/slc6a1connect_raredisease-icd10-genetics-activity-7374801222056411136-wmAZ

STXBP1 QA0.0141 https://www.stxbp1disorders.org/news/stxbp1-has-an-icd-10-code

DLG4 QA0.0149

Usher H35.5

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

RDCRN List with #DSC https://ncats.nih.gov/research/research-activities/rdcrn/consortia

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Elopement (See #S10e178 https://www.youtube.com/watch?v=OiRnXxh0wfY)

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Bexicaserin News: New data from the PACIFIC Study, LP352-202, Open Label Extension (OLE) will be presented at the 36th International Epilepsy Congress (IEC) in Lisbon, Portugal (Aug 30 - Sept 3, 2025).

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

S10e178 - https://www.youtube.com/watch?v=OiRnXxh0wfY

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

RareDisease #PatientAdvocacy #SYNGAP1 #SynGAP #ProMMiS

108 - Repurposing opportunity for SYNGAP1 nonsense mutations with Dr Bruce E. Bloom from Fortuity Pharma is up on YouTube https://youtu.be/4nqCLwuikIE?si=xWtbw-5OP_uMBwK5 and our website cureSYNGAP1.org/Webinars

S10e173 CORRECTION

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Amlexanox with Fortuity Pharma. https://fortuitypharma.com/

Sprint4Syngap 2025 is in eleven days! Start or join a team and fundraise!

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Sprint4Syngap 2025 is in one month! Start or join a team and fundraise!

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

S10e166 was remarkable, #UnMetNeed https://www.youtube.com/watch?v=rut1q0LzdtA, with almost 600 views this is the best S10 episode, ever. Don’t miss it, or the comments. Feel free to add to them!

Sprint4Syngap 2025 is in one month! Start or join a team and fundraise!

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

MEDICAIDCANTWAIT

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1

Finland #Missense: https://www.linkedin.com/posts/graglia_kulttuurirahastontuella-skr2025-syngap1-activity-7296289488912191489-rWl-/?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HE

SpecialNeedsTRAVEL

CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

Sprint4Syngap is launching… https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2025

CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

Sprint4Syngap is launching… https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2025

CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1