MitoAction Expert Series: Recent Episodes
MitoAction
Our monthly educational webinars feature guest speakers addressing topics important to the mito community, giving patients and families unprecedented access to leading clinical experts
Dr. Mark Tarnopolsky, founder, CEO and CSO of Exerkine Corporation, a biotechnology/nutraceutical company developing therapies for aging, obesity, muscular dystrophy, and mitochondrial disorders, discusses aging as it relates to mito in this Expert Series recording.
Original Airdate: June 16, 2023
This presentation will discuss mitochondria and psychiatry and cover the evidence that for a subset of people with bipolar disorder, mitochondria may be dysregulated in the brain. Medications used for bipolar disorder can change mitochondrial function and several novel strategies can target mitochondria.
Join us for this monthly expert series where we dive into what a genetic counselor is, what they do, how they can help you in your diagnostic journey, and some mito genetics 101.
The annual mito town meeting is our way of kicking off the new year by sharing all that we have in store for the next 12 months! We will hear from organizations and companies around the globe that have special opportunities, programs and projects for patients and families affected by mitochondrial disease.
The only thing universal about grief is that it’s universal, something we’ll all experience at some point in our lives. It’s messy, hard, non-linear, and while it may change, grief is never ending. The complexities of being a parent, caregiver, or patient in the mitochondrial disease community adds many layers that impact the grieving process. Join us as chaplain and author Becky Sansbury leads us in a discussion with Jessica Fein and Adam Johnson, about the different kinds of grief we experience throughout the mito journey.
Join Dr. Jordan Kemere as she discusses different components of healthcare transition including finding adult physicians, insurance changes, and transitioning to adult life. She will offer practical tips to parents and caregivers to start working on transition even at a young age.
There are so many misunderstandings and misconceptions of genetic testing. Dave will attempt to clarify these issues, and provide tools to empower patients to participate in their care from a financial perspective. His objective will be to provide a clear and concise breakdown of appropriate testing for Mito families seeking a diagnosis, while keeping their out of pocket costs as low as possible.
The underlying cause of LCHADD retinopathy is not fully understood. This presentation will look at the research that identifies the cell in the eye that is initially affected and characteristics associated with vision loss. Join Dr. Gillingham as she discusses early data on the natural history study and some new pre-clinical models to test novel treatments for LCHADD retinopathy.
Cardiac complications were often identified in symptomatic infants and children before newborn screening. Cardiac dysfunction can re-emerge or present for the first time during metabolic crisis at any age. This presentation with Dr. Melanie Gillingham will discuss the cardiac presentation in adolescent/young adults with LCHADD and discuss current efforts to better understand this late complication of LCHADD.
There was much discussion about current research in FAODs at our recent International Metabolic conference last month. Reneo Pharmaceuticals recently released positive results from the REN001 Phase1b LC-FAOD Study.
Dr. Marcus Favero speaking on Psychiatric Disorders, Medications & Mitochondrial Disease
Depression, schizophrenia, bipolar disease, and other psychiatric diseases - what is the connection for patients with mitochondrial disease?
Talking points include: -What does the medical literature say regarding the uses of nutritional therapies in the autism and related neurodevelopmental disorders?
-What about the uses of nutritional therapies in functional disease such as pain, fatigue, GI dysmotility, dysautonomia, anxiety, and depression?
-What exactly is Spectrum Needs, and how can it be used as nutritional support for the above conditions?
-Spectrum Needs beyond the spectrum: What about the use of this product in the average "mito" patient?
-How to integrate SpectrumNeeds into a complicated supplement regiment?
About The Speaker:
Richard G. Boles, MD
Dr. Richard G. Boles completed medical school at UCLA, a pediatric residency at Harbor-UCLA, and a genetics fellowship at Yale. For over two decades, Dr. Boles' clinical and research focus has been on changes in genes involved in energy metabolism, and more recently ion channels, and their effects on the development of common functional disorders. Examples include autism, pain syndromes, chronic fatigue, cyclic vomiting, intestinal dysmotility/failure, and depression. Dr. Boles practices the "bedside to bench to bedside" model of a physician-scientist, combining an active clinical practice with basic research into the underlying genetic predispositions leading to the same conditions. He has over 80 published papers, mostly in mitochondrial medicine. For 20 years, Dr. Boles was a faculty member at the Keck School of Medicine at USC and a practicing medical geneticist and metabolic specialist at Children's Hospital Los Angeles. He was a Medical Director of Lineagen and Courtagen, which are/were genetic testing companies. Dr. Boles became involved in genetic testing in order to facilitate the translation of the vast amounts of acquired genetic knowledge into applications that improve routine medical care. Dr. Boles has an active private practice in Pasadena and Aliso Viejo, CA. About half of the patients he currently sees as a physician have one of more functional conditions, especially cyclic vomiting syndrome, other forms of complex migraine, and/or chronic fatigue syndrome. Most of the other half have an autistic spectrum disorder or related condition. His clinical practice is devoted to using information, including genetic testing, to guide options for therapy. His care philosophy, practice, and types of patients he accepts are discussed at http://molecularmitomd.com. A telemedicine practice has just started at https://cnnh.org. Dr. Boles also does legal consulting, especially for those with multiple functional conditions that others are considering fictitious disorder/Munchausen-by-proxy/medical child abuse. Finally, he is the primary designer of SpectrumNeedsTM, a nutritional product with 33 active ingredients designed for individuals with autism or other neurodevelopmental disorders, with an emphasis on assisting mitochondrial function (https://www.neuroneeds.com).<
Join Amanda Balog, CGC, Senior Genetic Counselor, Mitochondrial and Metabolic Genetics, of GeneDx as she discusses: "What You Should Know About Genetic Testing for Mitochondrial Disorders."
Talking points include:
- Many genetic testing options for Mito patients are available and no one test is right for every individual patient.
- Sample type matters when testing for mitochondrial disorders.
- Detailed clinical information and family member testing is important for the interpretation of genetic testing.
About The Speaker
Amanda Balog is a board-certified genetic counselor and is the lead genetic counselor for the Mitochondrial and Metabolic Testing Programs at GeneDx. Prior to joining GeneDx, Amanda worked for several years as a clinical and research genetic counselor specializing in immune and lysosomal storage disorders.
Join us with Dr. Richard Boles as we learn more about how to interpret genetic test results.
The landscape today for a mitochondrial disease diagnosis is rapidly changing and now includes some genetic testing for most patients. However, many families are confused even further by the results. What is an VUS? What do the specific mutations mean? What does 30% depletion mean?
Learn the nuts and bolts of interpreting today's genetic tests from Dr. Boles in this informative discussion.
About the Speaker
Dr. Boles completed medical school at UCLA, a pediatric residency at Harbor-UCLA, and a genetics fellowship at Yale. He is board certified in Pediatrics, Clinical Genetics and Clinical Biochemical Genetics. His current positions include Associate Professor of Pediatrics at the Keck School of Medicine at USC, attending physician in Medical Genetics and General Pediatrics at Childrens Hospital Los Angeles, and Medical Director of Courtagen Life Sciences.
Dr. Boles practices the "bedside to bench to bedside" model of a physician-scientist, combining an active clinical practice in metabolic and mitochondrial disorders with clinical diagnostics and basic research through Courtagen. Dr. Boles' clinical and research focus is on polymorphisms (common genetic changes) in the DNA that encodes for mitochondrial genes, and their effects on the development of common functional disorders. Examples include migraine, depression, cyclic vomiting syndrome, complex regional pain syndrome, autism and SIDS.
Organizations share what they have planned for the next 12 months.
The annual town meeting is our way of kicking off the new year by sharing all that is planned for the next 12 months. We'll hear from organizations and companies around the globe that have special opportunities, programs, and projects for patients and families with mitochondrial disease.
We'll hear from the following organizations, among many others!
- MitoAction
- Mitochondrial Medicine Society
- Foundation for Mitochondrial Medicine
- BioElectron
- Stealth BioTherapeutics
- Oley Foundation
- GeneDx
- Miracles for Mito
- UMDF
- MitoBridge
- Ultragenyx
- Reata Pharmaceuticals
- VMP Genetics
- Lineagen Mitochondrial & Molecular Medicine
- North American Mitochondrial Disease Consortium
- Australian Mitochondrial Disease Foundation
- ThriveRx
Please join MitoAction as we welcome Annette Hines, Esq., founding partner of the Special Needs Law Group of Massachusetts. Ms. Hines will be speaking on the basics of estate planning and special needs trusts laws in the U.S. Questions to be answered include:
- What is estate planning?
- Why should you create a plan for your estate?
- What does a will do?
- What is probate, and which assets go through it?
- What is a trust?
- What documents are required for incapacity planning?
- What is a special needs trust, and why would you need one?
About the Speaker
Ms. Hines has been practicing in the areas of Special Needs, Elder Law and Estate Planning for over fifteen years. She received her JD from Howard University School of Law, her MBA from Suffolk University and her BA from the University of Vermont. Her clients include individuals and families of children with special needs, the elderly and others in the community.
Ms. Hines is the mother of two daughters, one of whom passed away from mitochondrial disease in November of 2013. Her personal experience as the mother of a child with special needs fuels her passion for quality special needs planning and drives her special understanding and dedication to her practice.
Prior to practicing law, she founded and directed the nonprofit home care company, Special Families-Special Care, Incorporated which created a new standard for caregiving and a greater pay scale for caregivers. After leading the company to $1.5 million in revenue and 50 employees, she merged it with Shriver Clinical Services Corporation of Natick, Massachusetts and shifted her focus to her law practice.
In addition to her membership in the Massachusetts Bar Association, she is a member of the National Academy of Elder Law Attorneys (NAELA), the National Academy of Special Needs Planners (ASNP) and the Massachusetts Association of Women Lawyers (MAWL), serving most recently as President. Recognized as a Distinguished Citizen by ARC Massachusetts and cited for public service by both the Massachusetts State Senate and House of Representatives, Ms. Hines works tirelessly on behalf of people with disabilities. Ms. Hines served as President of the Massachusetts Association of Women Lawyers for 2008-2009 and serves on the Board of Directors for a number of local non-profit organizations.
- What is the historical use of marijuana for medical purposes?
- Are there legalities associated with medical marijuana use?
- When is medical cannabis a potential therapeutic option for patients with mitochondrial disease?
- Are there guidelines on dosing and use?
- Is it true that medical cannabis is for pain and seizures only?
- Is marijuana addictive, even when used for medical purposes?
- Have there ever been safety studies published about use of marijuana for medical purposes?
Join us with Dr. Fran Kendall to get the answers to these questions and more regarding the use of medical marijuana (cannabis oil) for treatment in mitochondrial disease patients.
Georgia just signed into law the use of cannabis oil for a number of diseases, including mitochondrial disease. Several Mito families in Georgia advocated on behalf of this legislation. While 35 other states have passed similar legislation, Georgia is the first state to include mitochondrial disease in the list of disorders to be treated.
Dr. Kendall will touch on historical perspective, mechanisms of action, dosing, safety and outcome data.
About the Speaker Dr. Kendall trained and served on the staff at Boston Children's Hospital and Harvard Medical School for a number of years. She was the previous 50% owner of a successful genetic laboratory/healthcare provider (Horizon Molecular Medicine), and has extensive experience in the diagnosis and management of children with a wide array of metabolic disorders. She brings this vast experience to her private practice, VMP, LCC, as president and founder. Dr. Kendall is a well respected pediatrician as well as biochemical geneticist, and she has authored numerous research articles on rare diseases ranging from Nieman Pick Type C and mitochondrial disease. As one of the few clinical mitochondrial disease experts, she has a long-term interest in research and clinical aspects of rare metabolic diseases.
We had a wonderful Awareness Rally on Friday, Sept. 5, featuring people who are doing amazing things to raise awareness about mitochondrial disease.
Each speaker brought great ideas to the table and truly demonstrated the diverse ways we can raise awareness in our communities. We want you to get excited and inspired about raising awareness.
Below, you will find some helpful links and ideas from our speakers. Let's take action to improve the lives of patients and families with mitochondrial disease!
Kristi Wees' blog, Baby Food Steps (and her Mito Minutes)
Kristi's California Pizza Kitchen fundraiser Sept. 15-18 in Pittsburgh
Request a CPK fundraiser night
Christine Knox's Mito Quilts of Hope website
Facebook page for Mito Quilts of Hope
Christine's Story on Indiegogo campaign
Facebook page for Cream Mito
Cooper's Race: A MitoAction Energy Walk & 5K Race in Kingsport, TN
Mito Mad Hatter 5K
Here's an easy way to make Mito cookies! Cut out sugar cookies using a jelly bean shaped cutter, then decorate with frosting and round sprinkles. Put some in baggies with an information card about Mito and hand them out to your school class, at work, at parties! Thanks, Nicole and Natalie Dion, for the great idea!
Cooper Open and Cooper Open Scholarship in Greenland, NH
Kelley and Alyssa Curley, along with the rest of their family, make and sell these rainbow loom bracelets for Team Lissy Loo for the MtioAction Energy Walk & 5K. So far they've sold over 700 and made $700 for Team Lissy Loo! For more on Team Lissy Loo, click here.
Jeantine Lunshof was recently diagnosed with Mito and takes every opportunity to educate her Harverd colleagues. Her team for the MitoAction Energy Walk & 5K is Running Genes.
Ethan Allen, captain of Mito Warrior's Platoon, has been collecting bottles and cans for his MitoAction Energy Walk & 5K team. He also holds information booths, has been in the media, and recently participated in the Fonda Fair Convoy for a Cause. For more on his story, click here.
Tell your story to legislators; fight to pass bills; be vocal!
Mito Support of New England meeting feature Rep. Paul Heroux, who is trying to pass a bill to form a Rare Disease Advisory Council in Massachusetts
House Bill 977 would mandate coverage of the Mito Cocktail for all mitochondrial disea
Frustrated with the run-around from health insurance companies? Join us this month as we discuss strategies for advocating for the diagnosis, management, and treatment of your mitochondrial disease:
- Questions to ask when you receive a health insurance denial
- How to write and get help with an appeal
- Easy relationship building strategies to give you the advantage
- Online tools and organization habits to stay on top of claims
Join us with Stealth BioTherapeutics CEO Travis Wilson and others from the Stealth BT team for a live update from Stealth BT (click here to check out their website), information about Bendavia, and details about StealthBioTherapeutics' 2015 mitochondrial myopathy clinical trial.
A Q&A opportunity is included in this important discussion. Parents, patients and families - please join us!
This special teleconference/webinar is offered in collaboration by the UMDF and MitoAction.
For more information about the Stealth Mitochondrial Myopathy Trial, please call the trial question hotline 1-877-227-5018
Or visit www.clinicaltrials.gov (search Bendavia)
Trial Question Hot Line: 1-877-227-5018
https://www.mitoaction.org/resources/stealth-bt-mitochondrial-myopathy-trial/
Tools for Testing Mitochondrial Disorders: The Latest Advances in Genetics and Genomics
Guest speaker Dr. Richard Boles from Children's Hospital Los Angeles and Courtagen Life Sciences, Inc. to discuss:
- What is genomic sequencing and how does it change testing for mitochondrial disorders?
- Is NextGen testing appropriate for all people with suspected mitochondrial disease?
- How can DNA sequencing change information available about family inheritance of mitochondrial diseases?
- Do advances in genomic sequencing impact treatment options for Mito patients?
About The Speaker:
Dr. Boles completed medical school at UCLA, a pediatric residency at Harbor-UCLA, and a genetics fellowship at Yale. He is board certified in Pediatrics, Clinical Genetics and Clinical Biochemical Genetics. His current positions include Associate Professor of Pediatrics at the Keck School of Medicine at USC, Director of the Metabolic and Mitochondrial Disorders Clinic at Children's Hospital Los Angeles, and Medical Director at Courtagen Life Sciences Inc. Dr. Boles practices the "bedside to bench to bedside" model of a physician-scientist, combining a very active clinical practice in metabolic and mitochondrial disorders with basic research as Director of a mitochondrial genetics laboratory at the Saban Research Institute. Dr. Boles' clinical and research focus is on polymorphisms (common genetic changes) in the maternally-inherited mitochondrial DNA, and with new technology in the nuclear DNA (chromosomes), and their effects on the development of common functional disorders. Examples include migraine, depression, cyclic vomiting syndrome, complex regional pain syndrome, autism and SIDS. He has 50 published papers on mitochondrial disease. Dr. Boles is responsible for the final review of DNA sequences at Courtagen.
Dr. Richard Frye, MD PhD, Director of Autism Research and Associate Professor of Pediatrics at Arkansas Children's Hospital to discuss:
- Evidence for Mitochondrial Dysfunction in Autism Spectrum Disorder
- Biomarkers for mitochondrial dysfunction
- Importance of cerebral folate deficiency/insufficiency and the folate receptor autoantibody
- How cerebral folate deficiency/insufficiency is diagnosed and treated
About The Speaker:
Dr Richard Frye, MD, Ph.D.is the Director of Autism Research at Arkansas Children's Hospital/University of Arkansas Medical Sciences in Little Rock, AR. Dr Frye is a well-recognized expert in the diagnosis and treatment of ASD and other developmental disorders. Dr. Frye has a broad background including specific training in neurodevelopmental disorders, physiology, psychology and biostatistics. He is fellowship trained in Behavioral Neurology and Psychology and has clinical expertise in the assessment, diagnosis and treatment of children with ASD. While at the University of Texas he developed a medically-based autism clinic which was specifically designed to diagnose and treat neurological and metabolic abnormalities associated with ASD in order to improve quality of life and promote recovery. Over the past two years he have completed three clinical studies related to ASD, including an open-label trial examining the metabolic and behavioral effects of tetrahydrobiopterin, a clinical study of the metabolic and genetic characteristics of children with ASD and mitochondrial disease, and a clinical study on the prevalence of the folate receptor alpha autoantibody in children with ASD as well as the response to leucovorin treatment in ASD children with the folate receptor alpha autoantibody. As Director of Autism Research at the Arkansas Children's Hospital his goal is to develop an integrated autism program that includes a multi-specialty autism clinic, a translational research program focusing on biomarkers and clinical-trials, and a basic science program focusing on mitochondrial and redox metabolic metabolism.
Dr. Mark Korson from Tufts Floating Hospital for Children gives a "crash course" in interpreting lab values! Most patients with mitochondrial disease have faced a page of test results comprised of letters and numbers that would help them understand their current illness if the information made sense. CBC, CMP, LFTs, CPK, OAA and more...join us as we figure it out!
- CBC
- CMP
- Lactic acid
- pyruvic acid
- amino acids
- organic amino acids
- ammonia
- electrolytes
- glucose
- bicarbonate/co2
- metabolic labs
- CPK
- LFTs
- carnitine
- TFTs: TSH, T4, T3
- cerebral folate
About The Speaker:
Mark Korson graduated from the University of Toronto medical school and completed his pediatric residency nearby at The Hospital for Sick Children. He came to Boston to do a fellowship in genetics and metabolism at Children's Hospital. Following that, he directed the Metabolism Clinic at Children's until 2000, transferring then to Tufts Medical Center's Floating Hospital for Children. He is currently the Director of the Metabolism Service and an Associate Professor of Pediatrics at Tufts University School of Medicine.
Besides clinical medicine, a key focus for Dr. Korson is education. He is concerned about the growing crisis in metabolic health care due to the shortage of clinicians available to treat this community. To complicate this situation, there are too few people entering this subspecialty. In the fall of 2007, Dr. Korson launched the Metabolic Outreach Service, for which he has travelled on a regular basis to five teaching hospitals in the northeastern US where there is no on-site metabolic service. The goal is to provide educational and consultative support so that non-metabolic clinicians can learn how to participate more in the diagnosis and management of patients with metabolic disease.
A component of this effort is the Patient-As-Teacher Project, which engages patients and family members to participate actively in the teaching of medical students, house-staff, primary care providers and specialists. The Outreach Service is funded by a consortium of corporate and disease foundation sponsors.
In addition, Dr. Korson co-directs the North American Metabolic Academy, a one-week intensive course about metabolic disease for genetic and metabolic trainees. NAMA is sponsored by the SIMD, the Society for Inherited Metabolic Diseases.
How can a service dog help a child or adult patient with mitochondrial disease?
Learn more and ask questions, such as:
- How can service dogs help someone with mitochondrial disease?
- Do service dogs only help people who are deaf?
- What do service dogs do medically?
- How can my family apply for a service dog and what is our responsibility?
How can children, teens and adults with mitochondrial disease EXERCISE, especially if fatigue and exercise intolerance are hallmark symptoms of the disease?
Metabolic Nurse Educator, Margaret O'Riley, from Vancouver, British Columbia shares about the research - and practical solutions - surrounding exercise and mitochondrial disease.
This discussion will dig into questions that are relevant to children, teens and adult patients, such as:
- Why or why not should my child or I exercise?
- How?
- What does the research say?
- What type of exercise is best?
About the Speaker Margaret is a registered nurse who has been practicing for 18 years. 11 of those years have been spent at the Adult Metabolic Diseases Clinic at Vancouver General Hospital where she focuses her practice on working with adults with mitochondrial disease. Through the years, Margaret has learned a great deal about living with mitochondrial disease from the patients she works with. She is passionate about her work and about supporting this population. Her other passion is her 3 little boys, ages 2, 5 and 7.
As a follow-up discussion to Dr. Fran Kendall's presentation on "Muscle Biopsy Testing for Mitochondrial Disease", MitoAction welcomes Dr. Steve Sommer of MEDomics to discuss testing for mitochondrial disease using a blood sample.
About MEDomics After 23 years in academia, Dr. Steve Sommer started MEDomics in order to apply a revolutionary technology called "NextGen sequencing" to clinical mitochondrial medicine. (www.medomics.com)
MEDomics sequences the entire mitochondrial DNA genome thousands of times. That sometimes allows the diagnosis of mitochondrial disease to be made with a blood sample rather than with painful muscle biopsies. MitoDx is a test of unprecedented power for diagnosing mitochondrial genome disease, which is roughly "half the elephant" of mitochondrial disease.
For someone who lives with mitochondrial disease, understanding the "big picture" is important.
Dr. Koenig will explore the importance of caring for the whole patient when managing mitochondrial disease. How does each organ system affect others when looking at the "whole" person? For example, can treating anemia improve sleep? Can appropriate management of epilepsy improve a child's ability to learn and attend school?
Naturally, the symptoms and issues related to one's mitochondrial disease diagnosis are not isolated to one part of the body, and consideration of the impact that these symptoms have on the "whole person" is important.
About the Speaker Dr. Mary Kay Koenig, a pediatric neurologist at Children's Memorial Hermann Hospital and assistant professor in the Department of Pediatrics, Division of Child and Adolescent Neurology, at the University of Texas Medical School at Houston. Dr. Koenig is a member of the American Academy of Pediatrics, the American Academy of Neurology and the Child Neurology Society. She is a board member of the Houston chapter of the United Mitochondrial Disease Foundation.
Dr. Koenig's research interests are focused on mitochondrial disorders, neuro-metabolic disorders, autoimmune epilepsy, and neuro-genetic disorders.
Dr. Bruce Cohen from the Cleveland Clinic in Ohio discusses his perspective on the use of hyperbaric oxygen therapy, also known as HBOT, for people with mitochondrial disease.
Hyperbaric oxygen therapy is the use of 100% oxygen at a level higher than the atmosphere. HBOT is controversial, and has long been used to treat some conditions, such as carbon monoxide poisoning, burn inuries, and decompression sickness. However, some studies propose that HBOT may play a positive role with other conditions, such as autism, cerebral palsy, brain injury, multiple sclerosis and others.
Some patients and parents ask, "Is hyperbaric oxygen therapy safe for a person with the diagnosis of mitochondrial disease?"
About the Speaker Dr. Bruce Cohen, from the Cleveland Clinic in Ohio, is well known in the mitochondrial disease community. In addition to his background in mitochondrial medicine, Dr. Cohen has an extensive background in conducting clinical trials for cancer treatment.
For many years, muscle biopsy has been considered the "best" way to obtain an accurate diagnosis of mitochondrial disease. Muscle biopsy is costly, it is invasive, and is occasionally controversial with results that can be difficult for patients and families to understand.
Will there ever be an alternative to muscle biopsy testing for children and adults with suspected mitochondrial disorders? When does someone need a muscle biopsy? Why (and when) is a muscle biopsy necessary?
Dr. Fran Kendall from Virtual Medical Practice in Atlanta, Georgia updates us on the latest approaches to testing for mitochondrial disease.
- Muscle biopsies - why are they done?
- How do muscle biopsies help with a diagnosis?
- Fresh vs. frozen - is one better?
- Cost factors for Mito muscle testing
- Emerging trends in enzymology: buccal swab studies
- The need to identify causative Mito genes.
Join us this month to take a big picture look at agents that are toxic or potentially harmful to the mitochondria.
Dr. Katherine Sims from Massachusetts General Hospital shares information important to everyone concerned about their health, and explains why recognizing potentially toxic agents - from medications to environmental factors - can be especially worrisome and detrimental for children and adults who have a mitochondrial disorder.
About the Speaker Katherine Sims, MD is an associate professor of Neurology at Harvard Medical School and Director of the Developmental Neurogenetics clinic at MGH in Boston, MA. Dr. Sims is also chair of MitoAction's Medical Advisory Committee and works in research collaboration with Dr. Vamsi Mootha at the Broad Institute toward clinical phenotyping and metabolic profiling for mitochondrial disorders. Dr. Sims oversees the MGH Mitochondrial Disorders Clinical Registry and Tissue Bank.
Join us this month to learn more about the challenges facing kids and adults with Mito when it comes to nutrition. What are the goals for Mito patients, and how are they different from nutrition goals for the typical population?
About The Speaker
Abby Usen received her B.S. in Food and Nutrition Sciences and Dietetics from the University of Vermont. She completed her dietetic internship at the Frances Stern Nutrition Center and received her M.S .from the Friedman School of Nutrition Science and Policy at Tufts University. Since gradating from Tufts, she worked as a clinical dietitian/clinical nutrition manager at the Massachusetts Hospital School in Canton, Ma where she specialized in nutrition for children and adolescents with developmental disabilities. Most recently she has been an outpatient dietitian specializing in Pediatric Gastroenterology at Floating Hospital for Children at Tufts Medical Center. A great portion of her time is specifically working with patients with failure to thrive, gastrointestinal dysmotility and mitochondrial disease. She also spent 3 years working with patients having Inborn Errors of Metabolism and is the current Chair, of the Massachusetts Pediatric Practice Group.
Becoming a great advocate: advice for complex patients and families, with Mark Korson MD and Maggie Orr RN
Adult patients, caregivers, parents of affected children - all of us face the same challenge. How do we get our team on board? How do we get the help we need from doctors, teachers, nurses, therapists? How do we find ways to validate symptoms that are slippery or difficult to identify? And how do we do this in a way that brings positive results and cooperation instead of provoking stress and hard feelings?
One of the front-line treatment approaches to mitochondrial disease is use of a combination, unique to each patient based on symptoms and diagnosis, of vitamins and supplements such as Coenzyme Q10, B-vitamins, L-Carnitine, Creatine and Alpha Lipoic Acid.
Compounding pharmacists Saad Dinno, RPh, and Dr. Virginia Tawa, PharmD, from Acton Pharmacy answer everything you wanted to know about the ingredients which make up the mysterious "Mito Cocktail."
- What is a compounding pharmacist?
- How do ingredients in the Mito cocktail different from a compounding pharmacist than an over-the-counter source?
- What are the side effects of the vitamins & supplements used to support adults and children with mitochondrial disease?
- Which vitamins and supplements are most commonly included in a treatment regimen?
Learn about current treatment options.
About the Speaker Dr. Anselm is a member of MitoAction's medical advisory committee and practices in Child Neurology at Children's Hospital Boston. Her research is focused on clinical presentation of children with mitochondrial disorders and their response to therapy with different medications and vitamins/ supplements.
Dr. Anselm is currently participating in several clinical research studies. She is a co-investigator in a study using Dichloroacetate (DCA) to treat children with lactic academia. She sees children enrolled in the protocol when they are admitted to CH for DCA initiation and follows them in the Mitochondrial Program while they are being maintained on the DCA. Dr. Anselm also is Principal Investigator in a study entitled "Indirect calorimetry and nutritional assessment in patients with mitochondrial disorders." Children enrolled in this study undergo evaluation of their resting energy expenditure by indirect calorimetry and nutritional assessment. They also undergo metabolic evaluation by measurement of the levels of micronutrients/vitamins in their blood. Dr. Anselm also is involved in a multicenter study of patients with Angelman syndrome.
MitoAction welcomes psychologist Carole Slipowitz PhD and Tufts Metabolism clinic nurse coordinator Maggie Orr RN M.Ed to discuss the challenges of dealing with a diagnosis of mitochondrial disease.
How do you cope with the unpredictable, invisible disease?
Any chronic illness can be overwhelming - for a child, a family, or an adult with the condition. However, due to the unpredictability, complexity of symptoms, and uncertain prognosis, a diagnosis of mitochondrial disease is especially stressful...and exhausting.
About the Speaker Maggie Orr is the nurse coordinator at the Tufts Medical Center Floating Hospital for Children in Boston; she has 10 years of prior experience with mitochondrial disease patients. Carole Slipowitz has over 20 years of experience as a psychologist; for the past 2 years she has served as a consultant to MitoAction's Mito 411 support line.
Please join us on as we welcome two experts in the field of Social Security Disability Insurance (SSDI) and Supplemental Security Income (SSI) provide an overview of these public benefits for Mito patients. Topics to be covered in this conference call include:
- Overview of SSI and SSDI programs;
- The differences between SSI and SSDI;
- Social Security’s definition of disability as it pertains to mitochondrial disease;
- How SSDI is designed to work, eligibility criteria, and the full range of SSDI benefitts;
- The application and appeals processes for SSI and SSDI;
- Resources available to support SSI and SSDI applications and appeals processes;
- Information on SSI and SSDI benefits for adult disabled children;
- Returning to work after obtaining social security benefits (the "Ticket to Work Program");
- Specific challenges for individuals with mitochondrial disease in applying for SSDI and how to address them; and
- The benefits of professional representation and how to evaluate representation options.
About the Speakers:
Annette Hines has been practicing in the areas of Special Needs, Elder Law and Estate Planning for over fifteen years. She received her JD from Howard University School of Law, her MBA from Suffolk University and her BA from the University of Vermont. Her clients include individuals and families of children with special needs, the elderly and others in the community.
Ms. Hines is the mother of two daughters, one of whom passed away from mitochondrial disease in November of 2013. Her personal experience as the mother of a child with special needs fuels her passion for quality special needs planning and drives her special understanding and dedication to her practice.
Prior to practicing law, she founded and directed the nonprofit home care company, Special Families-Special Care, Incorporated which created a new standard for caregiving and a greater pay scale for caregivers. After leading the company to $1.5 million in revenue and 50 employees, she merged it with Shriver Clinical Services Corporation of Natick, Massachusetts and shifted her focus to her law practice.
In addition to her membership in the Massachusetts Bar Association, she is a member of the National Academy of Elder Law Attorneys (NAELA), the National Academy of Special Needs Planners (ASNP) and the Massachusetts Association of Women Lawyers (MAWL), serving most recently as President. Recognized as a Distinguished Citizen by ARC Massachusetts and cited for public service by both the Massachusetts State Senate and House of Representatives, Ms. Hines works tirelessly on behalf of people with disabilities. Ms. Hines served as President of the Massachusetts Association of Women Lawyers for 2008-2009 and serves on the Board of Directors for a number of local non-profit organizations.
Tai Venuti has more than 20 years of health education, marketing, sales, community and public relations experience in nonprofit, government and corporate arenas. As Allsup's manager of strategic alliances, she develops and grows relationships with organizations that share the company's commitment to empowering people with disabilities to live lives as financially secure and healthy as possible.
Ms. Venuti is a former journalist and public relations executive. She previously managed national public health campaigns for the U.S. Department of Health and Human Services. She holds a master's degree in public health from St. Louis University, a bachelor's degree in journalism from Michigan State University, and is accredited by the Public Relations Society of America.
Join us with Dr. Sumit Parikh, Director of the Cleveland Clinic Neurogenetics, Metabolic and Mitochondrial Disease program, and past president of the Mitochondrial Medicine Society. Learn more about the 2014-2015 publications based on collaborations and consensus surveys completed by the Mitochondrial Medicine Society. The landmark series of publications is the first to address existing standards of care and most common approaches to diagnosis, use of supplements and symptom management by leaders in mitochondrial medicine around the US.
Key points: * Mitochondrial medicine's complexity bring unique challenges to physicians * The practice of Mitochondrial Medicine has varied from provider-to-provider * Patients and families deserve uniformity in regards to diagnosis and treatment * The MMS Consensus Project was conceived with this goal in mind
About The Speaker
Dr. Parikh is the Director of the Cleveland Clinic Neurogenetics, Metabolic & Mitochondrial disease program. His clinical and research interests include the genetic diagnosis and treatment of patients with mitochondrial cytopathies, inborn errors of metabolism, cognitive and developmental regression, autism, leukodystrophies and developmental delays. He is part of the North American Mitochondrial Disease Research Consortium (NAMDC) and the Primary Investigator for the Pearson Syndrome Natural History study. He is an invited lecturer at national meetings and hospitals.
He completed his residency in pediatrics and fellowship in child neurology at the Children's Hospital of Pittsburgh and received additional training in genetics and metabolism at Cleveland Clinic and Centers for Inherited Diseases of Metabolism. Dr. Parikh has had the privilege of having Bruce Cohen, Charles Hoppel and Marvin Natowicz serve as his teachers during that time.
He joined the Cleveland Clinic in 2004. Since 2007, Dr. Parikh has been selected as one of "America's Best Doctors."
He serves as Scientific & Medical Advisor to the United Mitochondrial Disease Foundation, Cyclic Vomiting Syndrome Association and the International Foundation for CDKL5 Research. He is the Past President of the Mitochondrial Medicine Society. He is an invited faculty member of the North American Metabolic Academy. He was on the scientific planning committee of the Child Neurology Society and is an ad hoc reviewer for the Journal of Child Neurology, Journal of Inherited Metabolic Disease and Molecular Genetics & Metabolism.
What is the mitochondrial disorder PDCD?
PDCD is an abbreviation for pyruvate dehydrogenase complex deficiency, a genetic mitochondrial disorder in children which is frequently associated with lactic acidosis and neurological/neuromuscular symptoms. Join us Friday November 7th, 2014 with Dr. Peter Stacpoole from the University of Florida to learn about testing, diagnosis and treatment of PDCD.
(From Dr. Stacpoole's Benefunder Research page)
Mitochondria are the intracellular "powerhouses" of our cells. They are responsible for generating the energy needed by every tissue and organ in our bodies to perform their normal functions. Energy is essential to life and, when energy production is compromised, disease results. PDC is a key enzyme for maintaining the body's energy supply. The scientific team lead by Dr. Peter Stacpoole at the University of Florida in Gainesville, Florida, has connected a number of disease states to their potential treatment with the drug dichloroacetate (DCA). DCA stimulates PDC, increasing its ability to promote cellular energy production. DCA has shown promise in treating several life-threatening diseases, including cancer, pulmonary arterial hypertension and congenital PDC deficiency in children.
Solutions are needed to deliver the fruits of science to patients for whom they are intended. With DCA, Dr. Stacpoole's team has developed a uniquely acting compound that is a prototype of new class of drugs to increase the efficiency of normal metabolic processes essential for cell survival. Indeed, the story of DCA is a striking example in which the basic scientific questions have been answered and animal studies and even early stage clinical trials have been conducted. Yet, DCA is too simple a molecule to be patented. This problem has prevented traditional pharmaceutical support for conducting human trials with DCA in diseases in which currently approved therapy is either inadequate or nonexistent.
About the Speaker Dr. Stacpoole received his Ph.D. in 1972, from the University of California at San Francisco. He received his MD degree in 1976, from Vanderbilt University in Nashville, Tennessee. He also completed his internship and residency (1976-1978) training in Internal Medicine and Endocrinology Fellowship (1978-1980) training at Vanderbilt University. In 1980, Dr. Stacpoole became a member of the Department of Medicine at the University of Florida where he is currently a Professor of Medicine, Biochemistry and Molecular Biology.
Research Interests
Dr. Stacpoole's federally-sponsored research is broadly focused in two areas: intermediary metabolism and new drug development. He conducts patient oriented research on the Shands Hospital Clinical Research Center (CRC) and collaborates with investigators across N. America into the causes and treatment of genetic mitochondrial diseases, due to nuclear DNA or mitochondrial DNA mutations in genes that encode enzymes of carbohydrate metabolism or oxidative phosphorylation. These studies also engage collaborators with expertise in neurology, neurobehavior, clinical pharmacology, neuroscience and cell and molecular biology.
Related research includes mechanistically oriented laboratory studies on the molecular and biochemical consequences of loss-of-function mutations in the mitochondrial pyruvate dehydrogenase complex (PDC) and therapeutic interventions for PDC deficiency. He also collaborates with other faculty at the University of Florida to investigate the regulation of homocystine metabolism in humans in response to different genotypes or nutritional perturbations.
With regard to new drug development, Dr. Stacpoole and his colleagues have developed a prototype for a novel class of investigational drugs fo
What is the impact of illness or infection on a patient with mitochondrial disease?
Patients, parents, and healthcare providers with firsthand experience of mitochondrial disease have probably experienced the consequences of an illness or infection. Illnesses and infections have a more dramatic and prolonged impact on children and adults who suffer from mitochondrial disorders, often causing long periods of fatigue, regression in developmental milestones, skills or baseline function, and exacerbation or complaints of additional (unrelated) symptoms during and after the period of illness. In addition, some physicians and families notice an increased susceptibility to illness for patients with mitochondrial disease. However, there is limited published data on systematic analysis of immune system in patients with mitochondrial disease. Research focusing on the relationship between immune function and the mitochondria has been mostly limited to cell-based studies.
Join us to listen, learn and discuss the recent research and publication from an interdisciplinary collaboration between clinical investigators, Dr. Melissa Walker (Neurology), Katherine Sims (Metabolic Diseases) and Jolan Walter (Pediatric Immunology) at Massachusetts General Hospital, Boston, MA. These clinicians sought to determine how often infection and illness (including a systemic inflammatory response) occurred in patients with well-defined mitochondrial disease and immunodeficiency. A subset of their mitochondrial patients with evidence of immune abnormaliites repsponded well to immunoglobulin replacement therapy with less infections, preserved developmental milestones and improved quality of life.
About the Speaker Dr. Katherine Sims is a Pediatric Neurologist at the Massachusetts General Hospital. Her clinical work over the last 30 years has focused on the broad scope of neurogenetic disorders including those of the lysosome, particularly neuronal ceroid lipofuscinosis [Batten disease, NCL disorders], Fabry disease, Norrie disease, general neurometabolic disorders and, most recently, the primary mitochondrial energy metabolism disorders Over the last 15 years, Dr. Sims, working as clinician scientist, has directed the design and development of Patient Registries and BioRepositories for Mitochondrial, NCL and Norrie diseases. She is an expert diagnostician and works with great facility in identifying clinical cases and facilitating entry into appropriate clinical translational studies.
Jolan E. Walter, MD, PhD is the Director of Pediatric Immunodeficiency Program at Massachusetts General Hospital for Children. Dr. Walter’s clinical care focuses on patients with immune deficiency. She jointly follows patients with mitochondrial disease and immune dysfunction with the Neurogenetics Program (Dr Kathy Sims, Dr Amel Karaa and Dr Melissa Walker). She also conducts translational research on autoimmune manifestation of primary immunodeficiencies. Dr. Walter has graduated with a MD and PhD from University of Pecs, Hungary. Dr. Walter is has trained in Pediatrics at Children’s Hospital of the King’s Daughters, Eastern Virginia Medical School and in Allergy/Immunology at Boston Children’s Hospital. During her training, she conducted research both in the field of Virology and Immunology.
Melissa A. Walker, MD, PhD is a fourth year trainee in the Massachusetts General Hospital Child Neurology Residency ProgramDr. Walker’s clinical and scientific interests focus on improving the understanding and treatment of primary mitochondrial disorders. Dr. Walker received her MD and PhD degrees from Columbia University College of Physicians and Surgeons in New York City, New York. She train
Join us for an informative discussion with Dr. Richard Frye, Director of Autism Research and Director of the Autism Multispecialty Clinic at Arkansas Children's Hospital Research Institute.
There is increasing evidence that mitochondrial dysfunction is associated with autism spectrum disorder. Learn more about the latest research investigating the causes of this relationship, including the role of oxidative stress for these children.
Topics include:
- The evidence for mitochondrial disease and dysfunction in autism spectrum disorder
- The importance of the oxidative stress in autism spectrum disorder and its impact on mitochondrial function
- The evidence for a subset of children with autism with acquired mitochondria dysfunction as a result of high levels of oxidative stress
About The Speaker
Dr. Richard Frye is the Director of Autism Research at Arkansas Children's Hospital Research Institute, Director of the Autism Multispecialty Clinic at Arkansas Children's Hospital and Associate Professor in Pediatrics at the University of Arkansas for Medical Sciences. He received his MD/PhD from Georgetown University in 1998. He completed a residency in Pediatrics at the University of Miami, Residency in Child Neurology and Fellowship in Behavioral Neurology and Learning Disabilities at Harvard University/Children’s Hospital Boston and Fellowship in Psychology at Boston University. He holds board certifications in Pediatrics, and in Neurology with Special Competence in Child Neurology. Dr. Frye is a national leader in autism research. He has authored over 100 peer-reviewed publications and book chapters, and serves on several editorial boards of prestigious scientific and medical journals.
Over the past several years he has completed several clinical studies on children with autism spectrum disorder (ASD), including studies focusing on defining the clinical, behavioral, cognitive, genetic and metabolic characteristics of children with ASD and mitochondrial disease and several clinical trials demonstrating the efficacy of safe and novel treatments that address underlying physiological abnormalities in children with ASD, including open-labels on tetrahydrobiopterin, cobalamin and folinic acid and a recent double-blind placebo controlled trial on folinic acid. Future research efforts are focused on defining physiological endophenotypes of children with ASD and developing targeted treatments.
Understanding the mechanisms of mitochondrial deafness
Join us this month with Dr. Peter Kullar, Clinical Research Fellow at the Wellcome Trust Research Centre for Mitochondrial Disease at Newcastle University (UK) to learn about mitochondrial disease and hearing loss. Key topics include:
- Mechanisms of hearing and hearing loss
- Clinical profile, workup and diagnosis of a new patient
- Treatments and new directions for therapies
- Research studies for patients with mitochondrial disease related hearing loss
Dr. Kullar and Dr. Chinnery have a specific interest in the A1555G mutation (antibiotic associated deafness) and in causes of mitochondrial disease related deafness.
Learn more at http://www.newcastle-mitochondria.com/research-projects/understanding-mechanisms-mitochondrial-deafness/
About the Speaker
Dr. Peter Kullar is a clinical research fellow at Newcastle University's Wellcome Centre for Mitochondrial Disease Research.
Join us for the annual "Mito Town Meeting" on Thursday Jan. 9, 2014 at noon EASTERN time (9 a.m. Pacific).
The annual town meeting is our way of kicking off the new year by sharing all that is planned for the year. We'll hear from volunteers and representatives from a variety of programs and organizations. This is the meeting to attend if you want to get involved or get informed!
AGENDA * Welcome * MitoAction Socials & Events * UMDF Meeting 2014 * Courtagen Life Sciences * EPI-743 Clinical Trial * Thrive RX iThrive webinars * Camp Korey Mito Weeks * Hole in the Wall Gang Camp * Stealth Peptides * Miracles for Mito * Foundation for Mitochondrial Medicine * Light a Light for Mito * Mito 411 & Marcel's Way * Research Study Updates * Northwest Mito Guild * Mito Canada * 1:15-1:30 Additional announcements and questions – all are welcome.
How can you prepare your child for independence?
Transition to independence is challenging and important for all kids, but helping your child make good choices on his own when he or she also has a chronic illness can be complicated. How much independence is too much? At what age do you start planning for transition and allowing your child to make choices? How can we let our kids make their own decisions - and their own mistakes - when the stakes are so high? How can kids learn to self-advocate? What can parents do to help their chronically ill kids be able to listen to their own bodies, and to learn to plan accordingly?
Join us for a special presentation on "Tools for Transition: Gaining independence" with Ann Weaver, patient advocate at Thrive RX, and Dr. Parag Shah, medical director of the Children's Chronic Illness Transition Team at Lurie Children's Hospital.
About The Speaker Parag Shah, MD, MPH - Dr. Shah currently serves as the medical director of the Chronic Illness Transition Program at Lurie Children's Hospital in Chicago, IL. The Program works to provide education to youth and staff regarding transition, advise departments on their transition programs, and conduct some research surrounding transition. Dr. Shah graduated from Albert Einstein College of Medicine and completed his residency training at Children's Memorial Hospital in Chicago. He currently also works as a hospitalist at LaRabida Children's Hospital.
Ann Weaver - Ann is a Consumer Advocate for ThriveRx and the parent of a 19 year old son with chronic health issues. She recognizes the importance of providing teachable moments for children growing up with chronic health needs and guiding them to independence. She has advocated for parenteral and enteral consumers as an OLEY volunteer regional coordinator. As an CA she supports HPEN consumers and has developed transition materials for parents of children requiring nutrition support. Ann has presented on transitioning youth on HPEN at OLEY, AGMD and ASPEN. She has shared the perspective of consumer/caregiver at ASPEN and to other professionals, students and industry leaders in the parenteral and enteral nutrition field.
Ann holds an undergraduate degree in Psychology from Illinois Wesleyan University in Bloomington, Illino*i*s.
Join us with Dr. Ben Bronstein and Travis Wilson from Stealth Peptides. Stealth Peptides is a private biotech company responsible for the development of innovative mitochondrial therapeutics, including the investigational new drug "Bendavia." Bendavia has been studied in animals and is currently in Phase 2 studies in patients with cardiovascular and kidney diseases. Bendavia appears to target mitochondria and may preserve cellular ATP levels and prevent pathological reactive oxygen species formation in disease. Please join us to learn more about this exciting new drug and future possibilities for use of Bendavia by children and adults with mitochondrial disease.
About The Speaker
Travis Wilson is the president and CEO of Stealth Peptides Incorporated, a clinical stage biopharmaceutical company developing a novel class of mitochondria-targeted peptide therapeutics for treatment of ophthalmic and orphan diseases. Stealth Peptides’ lead compound in Phase 2 development, Bendavia, maintains mitochondrial bioenergetics including membrane potential and respiration under pathological conditions. Bendavia has been shown to improve cellular ATP levels in disease, and prevent pathological reactive oxygen species (ROS) formation, thereby improving compromised cardiac, renal and skeletal muscle function.
Travis also serves as a director on several boards for preclinical and clinical stage companies, providing operational and management oversight to a portfolio of companies developing drugs across a broad spectrum of therapeutic focus, including oncology, cardiology and critical care. Travis is a member of the life science investment team at the Morningside Group, a private investment group.
Ben Bronstein is the Vice President of Clinical Development at Stealth Peptides Incorporated, a clinical stage biopharmaceutical company developing a novel class of mitochondria-targeted peptide therapeutics for treatment of ophthalmic and orphan diseases. In addition to his role with Stealth Peptides, Ben is a Visiting Scholar at the Wyss Institute of Biologically Inspired Engineering at Harvard University. A board certified pathologist, Ben began his professional career on the staff of the Massachusetts General Hospital and on the faculty of Harvard Medical School. He has spent the past 25 years in entrepreneurial roles at life science firms and in venture capital. Ben has founded or held senior management positions at several venture-backed life science firms, including BioSurface Technology (regenerative medicine), Peptimmune (immunotherapeutics), Vidus Ocular (glaucoma device) and Neuron Systems (dry AMD).
Most recently Ben has served as a founder and senior vice president of Access BridgeGap Ventures, the life science investment unit of Access Industries, Inc. Ben is also a member of the Weill Cornell Medical College Faculty Industry Council and the Oversight Committee of the Coulter Translational Partnership program in Biomedical Engineering at Boston University.
It's time to take charge of the many hours that we as patients and families spend in clinics, waiting rooms, hospitals, and healthcare provider offices. How can you get more out of every appointment? More importantly, how can you get what you need from those interactions?
Health care is changing, for better or for worse it's a new landscape. As a result, there are many, many changes which are forced upon healthcare providers and their patients. From changes in insurance reimbursement to productivity expectations for physicians, it's tough for both physicians and their patients right now.
Meanwhile, children and adults with mitochondrial disease live with complex illness and in most cases a long list of symptoms. We have mulitple specialists, sometimes in multiple places. We have local docs, community hospitals, university clinics, specialists, therapists, outpatient labs, inpatient labs, out-of-state Mito specialists, etc. etc. How can we stack the odds in our favor so that we, the patients and parents, get the most out of every healthcare interaction?
Join us with MitoAction's Executive Director Cristy Balcells RN MSN and Kathy Rivers MD to dig in to this topic and to hear strategy suggestions from Cristy and Kathy. Cristy and Kathy are both moms to children who live with mitochondrial disease and healthcare providers. We'll take a look behind the scenes of what happens outside of the waiting room and how to get more from all of those hours spent in the clinic.
This topic is dramatically important to the parents of children with complex gastrointestinal presentations of mitochondrial disease. MitoAction brings this topic to our Mito community today in response to the increasing number of accusations of child abuse and Munchausen by proxy that have been placed upon many parents of children struggling from the devastating symptoms of mitochondrial disease.
Join us this month as we celebrate "International Mitochondrial Disease Awareness Week" across the globe and join efforts to improve awareness, acceptance and understanding of mitochondrial disease and the impact that the condition has on children and adults.
Dr. Flores will discuss "Munchausen by proxy and the intestinal failure patient" and take a candid look at cases where children with mitochondrial disease and intestinal failure caused the family's ability to care for the child to be called into question. Dr. Flores will address the challenges that face both physicians and parents when caring for these patients.
About the Speaker Dr. Alex Flores serves on the MitoAction Medical Advisory Board and iis Chief of Pediatric Gastroenterology and Nutrition, Floating Hospital for Children at Tufts Medical Center, and an Associate Professor at Tufts University School of Medicine. He is a graduate of the Universidad de San Carlos de Guatemala School of Medical Sciences, and received graduate training at Baylor College of Medicine, Children's Hospital Boston/Harvard Medical School, Duke University Medical Center, Hospital Militar, Jacaltenango Hospital, Roosevelt Hospital in Guatemala, and the World Health Organization-UNICEF. Dr. Flores is board certified in Pediatric Gastroenterology and Pediatrics and works closely with Dr. Mark Korson to support metabolic and mitochondrial patients with GI dysfunction. In addition to developing the LAPEG procedure, Dr. Flores' specialties include GI motility disorders, and general pediatric gastroenterology.
To work or not to work...that is the question
Many adults with mitochondrial disease face a difficult decision about how to financially support themselves while balancing the energy demands and potential health toll of having a job. Working also gives many people more than just a paycheck; it can be a way to find gratification, and may be an important part of a person's identity. When faced with the challenging symptoms of mitochondrial disease, many things, including if and how to keep a job, come into question.
Join us this month with guest speaker Lee Rachel Jurman. All are welcome!
About the Speaker Lee Rachel Jurman is a private disability advocate and case manager with Personal Disability Consulting, Inc. She helps adults living with disabilities and their families navigate the maze of public and private systems, and make informed decisions about living and working with disabilities.
Lee has more than 30 years of experience working with people with a range of disabilities. She was executive director of the Information Center for Individuals with Disabilities, a statewide non-profit Massachusetts agency for 6 years. She subsequently led a national corporate disability consultation and referral program at Work/Family Directions for over 9 years. Ms. Jurman has worked in a number of publicly funded community programs, and understands the services and systems available to people with disabilities. She has been in private practice since 2002, bringing compassion, experience, and a determined approach to identifying and securing the resources her clients need.
Lee is a summa cum laude graduate of Ohio University, with a Bachelor Degree in Music Therapy. She has a Master in Management of Human Services from the Florence Heller School at Brandeis University.
Lee is married, with two daughters adopted from China.
Solace Nutrition & Medical Foods joined MitoAction to discuss:
- What are medical foods, and how are they regulated?
- What is the difference between medical foods, supplements & drugs?
- How do medical foods interact with the electron transport chain in the mitochondria? (Click to see the video)
- How do medical foods like coenzyme q10, creatine monohydrate, & D-ribose improve health and energy in people with mitochondrial disease?
Topics of this discussion include:
- What are CoQ10, ubiquinol & Cyto-Q?
- How do they work?
- What is creatine monohydrate & is it helpful?
- What is Cytose & is it helpful?
About the Speaker
Mark De Fries and Nancy Moore from Solace Nutrition are experts on metabolism and Medical Foods, and together they have a total of over 30 years of experience in developing medical foods for rare conditions such as Inborn Errors of Metabolism, Food Allergies and certain neurological disorders. The mission of Solace Nutrition is the development of Medical Foods that target diseases which can be better managed through nutrition and thus promote a better quality of life.
MitoAction is excited to welcome Dr. James Dykens, Director of Investigative Cellular Toxicity at Pfizer Drug Safety Research & Development and author of the 2008 book "Drug Induced Mitochondrial Dysfunction".
Dr. Dykens shares with us today his perspectives on the relationship of mitochondrial function to overall health and discusses the potential effects of potential drug-induced mitochondrial toxicity. As the relationship between mitochondrial function, aging, disease and health gain traction, the importance of mitochondrial function and cellular health is in the spotlight. Dr. Dykens also discusses drug effects in patients with mitochondrial disease as well as the idea of toxicity related mitochondrial impairment to muscles, organs, and the nervous system. Dr, Dykens makes it clear that the opinions expressed here are his alone, not those of Pfizer.
Talking points include: * What is the immune system and why is it important? * Infection and mitochondrial disease * Immune function in mitochondrial disease
About The Speaker: Dr. Peter McGuire
Dr. Peter McGuire received his MBBCh (with Honours) from the Royal College of Surgeons in Ireland in 2003. Following a combined residency in Pediatrics and Medical Genetics at Mount Sinai Medical Center in New York City, he remained as an Assistant Professor in the Program for Inherited Metabolic Diseases at Mount Sinai. Dr. McGuire is board certified in Pediatrics, Clinical Genetics and Biochemical Genetics.
In 2010, Dr. McGuire moved to the National Human Genome Research Institute (NHGRI) at the National Institutes of Health to join the Physician Scientist Development Program. He was appointed to the position of tenure track Investigator in 2016.
Throughout his career, Dr. McGuire has been focused on improving the care of patients with disorders of mitochondrial metabolism. By combining his training in Immunology and Biochemical Genetics, he has fashioned a translational research program to understand the interplay between mitochondrial metabolism and the immune system. As Head of the Metabolism, Infection and Immunity Section (MINIS) at NHGRI, Dr. McGuire and his team study the interplay between metabolism and the immune system in patients with inborn errors of mitochondrial metabolism. The group focuses on two aspects of immunometabolism:
*1) Immune system activation and end-organ mitochondrial metabolism*
The focus of the group's research on immune system activation and end-organ metabolism is based on the clinical observation that infection is a major cause of morbidity and mortality in patients with mitochondrial disease. The MINIS uses animal models, combined with infectious organisms, to yield insights into the metabolic perturbations seen in disorders of mitochondrial metabolism during infection and to identify potential targets for intervention.
*2) Role of mitochondria in immune cell function*
The group also studies mitochondrial metabolism and immune cell function. Immune cells drastically alter their metabolic programming during activation and differentiation. The deficiencies present in patients with mitochondrial disease may affect these processes. The group developed a clinical protocol in the National Institutes of Health (NIH) Clinical Center, called the NIH MINI Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism (NIH Clinica
An update from Edison Pharma on the Development of EPI-743 clinical trial for children with Leigh Syndrome.
Topics for this call include:
- Status on EPI-743 clinical development;
- Status on EPI-743 US clinical trials
- Status on EPI-743 European clinical trials
Join MitoAction and Dr. Richard Frye to discuss the distinction between primary and secondary mitochondrial diagnosis. Some talking points will include:
- Primary mitochondrial disease (PMD) is ideally diagnosed by a known or indisputably pathogenic mitochondrial or nuclear DNA mutation.
- Secondary mitochondrial dysfunction (SMD) can be caused by genes encoding either function nor production of the oxphos proteins and accompanies many heriditary non-mitochondrial diseases.
- Secondary mitochondrial dysfunction (SMD) can also be caused by enviornmental factors.
- In the absence of the ability to diagnose a primary mitochondrial disease (PMD), mitochondrial dysfunction can be effectively treated with standard treatments for PMD.
- When the etiology of mitochondrial dysfunction is unknown, re-evaluation for genetic and other causes should be revisited on a regular basis.
About The Speaker:
Dr. Richard Frye is a pediatric neurologist and Chief of the Division of Neurodevelopmental Disorders at Phoenix Children's Hospital. He received his MD/PhD from Georgetown University in 1998. He completed a residency in Pediatrics at the University of Miami, Residency in Child Neurology and Fellowship in Behavioral Neurology and Learning Disabilities at Harvard University/Children’s Hospital Boston and Fellowship in Psychology at Boston University. He holds board certifications in Pediatrics, and in Neurology with Special Competence in Child Neurology. Dr. Frye is a national leader in autism research. He has authored over 100 peer-reviewed publications and book chapters, and serves on several editorial boards of scientific and medical journals.
*Are you OVERWHELMED?* This time of year, we look forward to the joy, excitement, and fun of the holiday season: Thanksgiving, Hanukkah, Christmas, Kwanzaa, and the New Year are all occasions to rejoice and celebrate with family and friends.
But if you're like most adult patients or families of children with mitochondrial disease, the holidays can get complicated - or even overwhelming. With the holidays comes more than the usual amount of juggling, multitasking, planning, making, going, doing the to-do list grows fast, and it seems to get longer every year. For many Mito patients, caregivers and families, the expectations of others add extraordinary stress during this season.
For adult patients, spouses, and parents of children with Mito, being maxed out on both time and energy is already your normal state. Add on all the things we do - or want to do- during the holidays, and you've got a recipe for overload.
This month, MitoAction invited author and special guest Joan Celebi as she shares with us some ways to not just "survive" the holidays this year -- but be invigorated, refreshed, and renewed by them.
About the Speaker: *Joan Celebi is a certified life coach and special needs mom, and the author of Overwhelmed No More! The Complete System for Balanced Living for Parents of Children with Special Needs.*Through internationally acclaimed tele-workshops and tele-coaching programs, Joan helps parents successfully navigate life with a child with special needs. Joan holds a Master's Degree in Education from Harvard University.
An informal discussion with Cristy Balcells on Mito diagnosis and Autism from our February 2011 Autism-Mito Support Meeting.
What is "the Mito Cocktail"?
Referring to the combination of vitamins and supplements used as therapies in the treatment and management of mitochondrial disease and mitochondrial dysfunction, the "Mito Cocktail" is unique to every patient. Join us with compounding pharmacist Ted Toufas PharmD RPh from Acton Pharmacy to learn more.
- Understand what supplements are most commonly used as mitochondrial disease therapies?
- Learn why certain supplements and co-factors help children and adults with mitochondrial disease or dysfunction
- Explore the biochemistry of various supplements and how they work in the body and in energy metabolism
- Discuss compounding and understand how compounding is used in mitochondrial disease therapy
About The Speaker: Ted Toufas is a Clinical Pharmacist and Director of Education who has a Bachelor’s of Science from Worcester Polytechnic Institute in Biochemistry & Genetics, and a Doctorate of Pharmacy from Massachusetts College of Pharmacy. He has a passion for learning and imparting information to patients and colleagues. His role as Director of Education has him working with staff members and prescribers to develop better therapies and outcomes for patients. He will be developing a series of informational seminars for patients and providers in the local area. While he works closely with physicians and patients assessing medications and new therapies, he plays an important role in the Compounding Lab with formulation development and Quality Assurance. He has been at Acton Pharmacy in one capacity or another since 2005, and strives for a continuous improvement in the quality of healthcare for our patients.
Dr. Andrew Nierenberg from Massachusetts General Hospital to learn more about Psychiatric Disorders in Mitochondrial Diseases and Mitochondrial Dysregulation in Psychiatric Disorders.
Andrew Nierenberg MD is the Director of the Bipolar Clinic and Research Program, Massachusetts General Hospital Professor of Psychiatry at Harvard Medical School.
Emerging research suggests that there is a relationship from many psychiatric conditions and mitochondrial dysfunction. Join us to further examine:
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The role of mitochondria in brain function;
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Psychiatric manifestations of mitochondrial diseases; and
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Mitochondrial dyregulations in psychiatric disorders.
Join MitoAction and board-certified family physician and Adjunct Associate professor of medicine at Georgetown University, Dr. Marguerite Duane, to explore the impact of the female menstrual cycle as a predictor in rare disease and improved healthcare outcomes. An often overlooked vital, understanding the female cycle can also help us understand the evolution of rare disease symptoms.
Dr. Pat O’Malley from Massachusetts General Hospital talks about long-term care and quality of life support for adults and children with mitochondrial disease.
This month’s meeting is held in loving memory of Christopher A. Clark, whose family remained dedicated to helping him have the best quality of life possible every day.
About the Speaker Dr. O’Malley has cared for several families with mitochondrial disease and helped them to find quality of life and balance despite the tragic progression of the disease. Join us as we learn more about palliative care and hospice, and work to uncover the benefits and break down the myths around what is often only associated with end-of-life.
Dr. O’Malley has trained in pediatrics, pediatric critical care, emergency medicine and palliative care at Massachusetts General Hospital and Children’s Hospital Boston. She has served as the director of the Pediatric ED at MGH for 25 years and is also the director of the new Pediatric Palliative Care Team.
lanning for your future with Mito… a workshop for parents & adult patients
Monthly International Teleconference Outreach
“It feels like each day is all I can handle – how can I possibly plan for the future??”
Living every day with mitochondrial disease as an adult patient or a parent caring for an affected child can be completely consuming and overwhelming. Many of us forget or put off thinking about the future, especially when the future feels so uncertain.
Jack Raycroft joins MitoAction with a compassionate perspective on simple steps you can take today to help ensure that your family’s future is more secure, giving us a little more peace of mind while we continue to live for today with Mito.
Each month, MitoAction holds a toll-free, international teleconference to address topics important to the Mito community.
Join us to discuss “LIVING TODAY WITH MITO & PLANNING FOR THE FUTURE” with guest speaker Jack Raycroft from Baystate Financial Services.
About the Speaker John “Jack” Raycroft is a financial planner at Baystate Financial Services and a MetDESK Specialist with MetLife’s Division of Estate Planning for Special Kids. He works exclusively with families who have a dependent with special needs. Through workshops and consultations, Jack educates families (and the organizations that support them) on the issues critical to successful special needs planning. His work helps families prepare for the future and the time when they will not be present, or able, to care for their themselves or their children. He educates them on what they can do today and tomorrow to make their future more secure.
Jack speaks publicly throughout Massachusetts, New Hampshire and Rhode Island on the subject of special needs planning. He has presented at multiple organizations including The National Downs Syndrome Congress and LADDERS at Massachusetts General Hospital for Children.
Additionally, Jack serves as the Adjunct Planned Giving Director of maaps(Massachusetts Association of Approved Private Schools), a network of over 100 schools/programs serving all populations of the special needs pre-22 community. Jack provides charitable planning services to these schools upon request.
Jack is a parent of a child with special needs and he volunteers his time for the North Shore Arc, the Special Olympics and The Independent Living Center of the North Shore.
The possible relationship between metabolic disorders, elevated lactic acid levels, and features of autism spectrum disorder have been described in the medical literature since the early 90’s. In fact, much research exploring the correlation between autism or ASD (autism spectrum disorder) and mitochondrial dysfunction has been published throughout the last decade, long before the Hannah Poling case (March 2008) brought the association to the public’s attention.
Since the US Vaccine Compensation Board determined, based on Hannah Poling’s case, that “vaccines significantly aggravated an underlying mitochondrial disorder causing brain damage with features of autism spectrum disorder”, a whirlwind of confusion amongst parents of affected children has occurred.
Are vaccines safe?
Do children with mitochondrial disease have a potential to develop autism, or do children with autism have an underlying mitochondrial disorder?
Is mitochondrial dysfunction the “cause” of autism or behavior compatible with ASD?
What do we really know and understand about the relationship between autism spectrum disorders and mitochondrial cytopathies?
Join us as Dr. David Holtzman from Massachusetts General Hospital shares his perspective and research on the autism-mitochondrial disease debate.
Join us this month with one of Atlanta’s most honored occupational therapists, Susan Orloff, OTR/L. Susan is owner of Children’s Special Services and has over 30 years experience helping children in both schools and the clinical setting. Susan brings fresh perspective and ideas to help adults AND children with mitochondrial disease through her hands-on experiences. Read Susan’s article on “Understanding the Energy Connection”.
Susan shares some of her perspective about the frustration people with mitochondrial disease may feel. She says, “The pessimistic view of life in the early part of the last century seems very close to what some children are probably feeling about their daily life in school. It is anxiety-provoking and tiresome to go to a place everyday where, no matter how hard you may try – you fail. But it doesn’t have to be this way. Occupational therapy is a treatment that is medically based to provide habilitation and rehabilitation to individuals experiencing difficulties in daily life functions. With children, this includes–but is not limited to–assistance with the attainment of age appropriate motor and visual perceptual abilities. The abilities include both academic and social skills required for life success.”
Susan hopes to offer some new ideas to adults and children who face fatigue, muscle weakness, and frustration due to their mitochondrial disorder. Susan is the author of Learning Re-Enabled and has won many awards for her outstanding contribution to the disability community.
MITO Meeting: MONTHLY INTERNATIONAL TELECONFERENCE OUTREACH
Join us with Dr. Katherine Sims from Massachusetts General Hospital as we take a closer look at understanding genetic inheritance patterns of mitochondrial disease.
MITO Meeting: MONTHLY INTERNATIONAL TELECONFERENCE OUTREACH
Join us this month with Dr. Alex Flores, Chief of Pediatric Gastroenterology and Nutrition, Floating Hospital for Children at Tufts Medical Center, and an Associate Professor at Tufts University School of Medicine in Boston, MA.
Dr. Flores works closely with Dr. Mark Korson to support the special group of patients with mitochondrial disease and a dominant GI dysfunction as part of their disease symptoms.
Dr. Flores is board certified in Pediatric Gastroenterology and Pediatrics. In addition to developing the LAPEG procedure, Dr. Flores' specialties include GI motility disorders, and general pediatric gastroenterology.
Dr. Flores will share his perspective on the most common GI issues for children and adults affected by mitochondrial disease.
- What are some possible causes of the symptoms?
- How is dysmotility related to mitochondrial function?
- Does autonomic dysfunction play a role?
- What are the recommendations and supportive treatments for these GI issues?
This MitoAction podcast summary introduces Dr. Alex Flores, a pediatric gastroenterologist at Tufts Floating Hospital for Children. He discusses the specific issues, causes, symptoms, and solutions for children with GI motility problems. This podcast summary also includes questions posed by listeners.
Join us this month with Dr. Fran Kendall from Emory University Department of Human Genetics as we dig deeper into confusion surrounding two components of the “Mito Cocktail”: Coenzyme Q10 and Creatine.
A long-time advocate and clinician for mitochondrial disease patients, Dr. Kendall began the Mitochondrial Disorders Program at Boston Children’s Hospital 18 years ago. Since that time, she has been involved in direct patient care as well as diagnostics and biochemical genetics research and currently follows patients through her Atlanta practice.
Exclusive Interview with Dr. Guy Miller, CEO of Edison Pharma.
Is there hope for a cure for Mitochondrial Disease? Perhaps the answer is closer than we thought.
On July 15, 2008 Edison Pharma and partner Penwest Pharmaceuticals announced that A0001, an “improved” variant of Coenzyme Q10 (CoQ10), has entered Phase 1 clinical development with healthy volunteers. Edison predicts trials in patients with inherited mitochondrial disease will begin in 2009.
MitoAction welcomed Dr. Irina Anselm, pediatric neurologist and head of the mitochondrial disease clinic at Children’s Hospital Boston to discuss the topic of pain for patients with mitochondrial disease at our monthly international teleconference.
The MitoAction committee chairs met by conference call to discuss the exciting ideas and projects ahead for 2008.
Join MitoAction in an informative and exciting discussion with disability advocate and attorney Valerie Powers Smith as she brings to light issues regarding health care insurance and how to maximize coverage (e.g., understanding your plan, how to get things covered with appropriate medical necessity documentation, and appeals). She will also discuss other disability care issues, such as Medicaid, SSI benefits and managing the disabled person’s assets/income for future and continued eligibility; as well as managing parental estate concerns with proper estate planning and special needs trusts.
Guest speaker and attorney Valerie Powers Smith took patients and parents on a crash course in the area of disability law. “If I could emphasize one thing to all people with mitochondrial disease, it would be the importance of proactive planning, and understanding the basics about everything from your estate plan to your insurance benefits.”
The impact of the COVID-19 pandemic on medically fragile populations, who are at higher risk of severe illness and sequelae, has not been well characterized. Viral infection is a major cause of morbidity in children with mitochondrial disease (MtD), and the COVID-19 pandemic represents an opportunity to understand host-pathogen interactions. This talk will summarize a number of recent research efforts to understand the impact of COVID-19 on the mitochondrial community.
Learn about the new draft CDC Opioid Guideline, how it impacts the mito community and how you can raise your voice to address important topics still to be decided by the CDC.
We will hear from:
Charles Mitter, Ph.D. Emeritus Professor, College of Computer, Mathematical and Natural Sciences, University of Maryland; Former Chair, Department of Entomology
Caroline Sanders Senior Policy Director, California Pan-Ethnic Health Network
George Lippman Social Justice Advocate, Chair of the City of Berkeley Peace and Justice Commission
Join MitoAction and Dr. Jan Smeitink, CEO of Khondrion for our our March Expert Series presentation. MELAS spectrum (m.3243A>G) disorders belong to the most frequently encountered group of primary mitochondrial diseases with an unmet medical need for treatment development. Following an introduction of the clinical disease spectrum Dr. Smeitink will discuss the development and state-of-art of Khondrion’s lead product sonlicromanol.
Join MitoAction and Dr. Mark Korson, VMP Genetics, as he discusses sick days, navigating the ER as a patient, and the importance/challenges of protocol letters within the mitochondrial disease community.
About the Speaker
Dr. Mark Korson graduated in medicine from the University of Toronto and completed a pediatric residency at Toronto’s Hospital for Sick Children, followed by a genetics/metabolism fellowship at Boston’s Children’s Hospital. He directed the metabolic clinics at Boston Children’s Hospital until 2000 and across town at Tufts Medical Center until 2014. He co-founded and co-directs the North American Metabolic Academy, the premier educational experience around metabolic disease for genetics trainees on this continent. In 2017, he joined VMP Genetics as Director of Education and Physician Support Services, providing remote assistance to clinicians caring for patients with proven or suspected metabolic disease. He also directs a very active education program that addresses knowledge gaps among non-genetic physicians, as well as non-physician health professionals who work in metabolic clinics but who have never had any formal training in this specialty. He initiated and oversees at VMP Genetics the Patient-Teacher Registry and Patient-Teacher Video Catalog, with the aim of ensuring that the patient voice plays a bigger role in the education of health professionals. Regionally, he is on the board of the New England Regional Genetics Network, and as a founding board member of Rare New England, hosts their annual Rare Disease Day Speakers Series in New England and their online Genetics Career Fairs.
Join MitoAction and Metabolic Dietitian, Casey Burns to learn tips on navigating diets and finding the balance with GAII. We will tackle topics related to nutrition, balancing low-fat/low-protein diets, nutritional needs for those with and without a g-tube, and much more! A question and answer time will follow the presentation!
About the Speaker
Casey Burns has been a metabolic dietitian at Children’s Hospital Colorado for 15 years. She has co-authored many patient education materials and articles on metabolic disorders and loves working hands-on with patients to help them better understand their diagnosis.
Join Dr. Matt Klein from PTC Therapeutics , MitoAction and Cure Mito for an exclusive webinar discussing the history of clinical research in Leigh Syndrome, the evolution of PTC-743 and the MIT-E Study!
Join Marcelle Longlade; yoga teacher, chronic condition advocate, biomedical engineer, and devoted entrepreneur for a chair yoga session and discussion about relieving some stress during the upcoming holiday season!
About the Speaker:
Marcelle Longlade is a yoga teacher, biomedical engineer, and devoted entrepreneur. She is a passionate advocate for people living with chronic conditions and disabilities because Marcelle is one of those people too. She has had a life-long journey battling complex health conditions, mainly FMF, Narcolepsy Type 1, and hEDS. Marcelle created the Chronically Surviving advocacy blog, where she shares stories from her life. As a result, others feel open to sharing their narratives to help spread awareness and develop a sense of community and belonging. The second part of her platform and business is called Asintmah Healing. She offers physical, emotional, spiritual, and practical support using a holistic model of care, specifically for those living with chronic health conditions.
Resources Shared:
The Spoon Theory - https://butyoudontlooksick.com/articles/written-by-christine/the-spoon-theory/
Marcelle's Blog (Chronically Surviving) - https://www.chronicallysurviving.com/
Join MitoAction and Dr. Richard Boles for our November Mito Expert Series presentation titled: Whole genome sequencing with comprehensive re-analysis in undiagnosed or unclear causes with mitochondrial dysfunction: How this can lead to improved diagnosis, treatment, and clinical outcomes.
Dr. Boles will talk with us about the Neurabilities NeuroGenomics Program and how we can make exact diagnoses using whole genome sequencing, translate that into treatments, and improve clinical outcomes. He will also share information with us about the NeuroNeeds product line.
Click here for the accompanying slides.
Join MitoAction and Acton Pharmacy’s Clinical Pharmacist, Ted Toufas as we revisit and provide the latest updates about the mito cocktail! The mito cocktail is one of the front-line treatment approaches to mitochondrial disease and uses a combination, unique to each patient based on symptoms and diagnosis, of vitamins and supplements such as Coenzyme Q10, B-vitamins, L-Carnitine, Creatine, and Alpha Lipoic Acid.
About the Speaker Dr. Ted Toufas is a Clinical Pharmacist and Pharmacist-in-Charge of the Compounding Lab who has a Bachelor’s of Science from Worcester Polytechnic Institute in Biochemistry & Genetics, and a Doctorate of Pharmacy from MCPHS University. He has a passion for learning and imparting information to patients and colleagues. Ted has received training in compounding medications, hazardous drug compounding, veterinary compounding and Quality Assurance. Working closely with physicians and patients, he develops formulations that would best suit patient needs. Under his supervision, Acton Pharmacy’s compounding lab has gained accreditation with the Pharmacy Compounding Accreditation Board and is the first in New England (3rd in the USA) to have a certificate of distinction in hazardous medication compounding. He has been at Acton Pharmacy in one capacity or another since 2005, and strives for a continuous improvement in the quality of healthcare for our patients.
Join MitoAction, Laura Pisani-Betancourt and Kristin Voorhees from Ultragenyx Pharmaceutical on Friday, July 9th, 2021 at 12:00pm EST for our monthly expert series presentation!
On this webinar, Ultragenyx will discuss the development of its LC-FAOD Disease Monitoring Program (DMP), which includes both an in-clinic study and an online study that are expected to launch in 2021. Participants will learn about the studies, including how insights from the LC-FAOD community have informed the DMP’s research goals, how the DMP aims to change the future of LC-FAOD research and disease management, and Ultragenyx’s plans to launch the DMP.
This webinar is intended for U.S. members of the MitoAction community
Join licensed school psychologist, Gena Padgett and high school history teacher / FAOD mom, Beth Folcher to prepare yourself for sending your child(ren) back to school by exploring the differences between IEPs and 504 plans while learning some helpful tips to support your child(ren) in school.
On Friday, June 4 at 12:00pm EST, we will be joined by Dr. Madhu Davies from Reneo Pharmaceuticals for our June Mito Expert Series presentation, titled Moving Mito Medicine: Reneo Strides Study.
Join MitoAction, Eliza Kruger and Kristin Voorhees from Ultragenyx Pharmaceutical on Friday, May 21, 2021 at 12:00pm EST for our monthly expert series presentation!
On this webinar, Ultragenyx representatives will discuss how insights and feedback from people living with LC-FAOD shaped the design of a new study: LC-FAOD Odyssey. This study uses digital technology developed by PicnicHealth to collate and organize medical records, allowing people living with LC-FAOD to contribute their anonymized data to advance research. Participants will learn about the study goals and how the community can participate, as well as see a demo of the technology and the opportunities it offers to patients and caregivers.
This webinar is intended for U.S. members of the MitoAction community
Join MitoAction and Dr. Jerry Vockley from University of Pittsburgh Children’s Hospital on Friday, May 14, 2021 for our monthly expert series presentation!
About the Speaker
Gerard Vockley, MD, PhD, is an internationally recognized leader in medical genetics and the field of inborn errors of metabolism. He joined Children’s Hospital of Pittsburgh as chief of the Division of Medical Genetics in 2004 and was named professor of pediatrics at the University of Pittsburgh School of Medicine and professor of human genetics at the university’s Graduate School of Public Health.
Dr. Vockley, a native of Homestead, Pa., earned a bachelor’s degree in biology from Carnegie Mellon University in 1978 and completed his medical degree and a doctorate in genetics at the University of Pennsylvania School of Medicine, Philadelphia, in 1984. Following his residency in pediatrics at the Denver Children’s Hospital in 1987, he completed a fellowship in pediatrics and human genetics at Yale University School of Medicine.
In 1991, Dr. Vockley joined the faculty of the Mayo Clinic School of Medicine, where he was engaged in teaching, clinical service and research until he moved to Children’s Hospital of Pittsburgh. At Mayo, he earned a reputation as an exceptional clinician, establishing Mayo’s Inborn Errors of Metabolism Clinic, which is internationally recognized for excellence in the diagnosis and care of patients with those disorders. At the Mayo Clinic School of Medicine, he served as an assistant professor in medical genetics and as an associate professor of medical genetics before being named professor of medical genetics and chair of the Department of Medical Genetics in 1999. Among his accomplishments as an educator, Dr. Vockley initiated the development of a continuing education curriculum to update all staff physicians at Mayo in molecular biology and genetics and encouraged them to incorporate genetic information into their routine clinical practice.
Dr. Vockley’s long record of groundbreaking research has earned him distinction in his field. His integrated approach to the study of inborn errors of fatty acid beta-oxidation and branched chain amino acid metabolism has led to the discovery of several new genes in the metabolic pathways and redefined these critical cellular processes. His laboratory has identified and characterized the molecular basis of three new inborn errors of metabolism in recent years. Dr.Vockley has been awarded continuous National Institutes of Health (NIH) RO1 funding since his earliest days as an independent investigator. He currently holds three NIH grants.
Dr. Vockley is board-certified in pediatrics, clinical genetics and biochemical/molecular genetics. He has published more than 70 articles in leading genetic and biochemical journals and has received numerous honors for his work. His professional and scientific society memberships include the American Society for Clinical Investigation, Society for Inherited Metabolic Disorders, American Society of Human Genetics, American Academy of Pediatrics, American Association for
Join MitoAction and Dr. Douglas Wallace, the Director of The Center for Mitochondrial and Epigenomic Medicine at Children’s Hospital of Philadelphia (CHOP) for our March Monthly Mito Expert Series presentation titled, Mitochondrial Defects May Lead to Autism.
To view the accompanying slides for the presentation, click here.
The annual town hall meeting is MitoAction’s way of kicking off the new year by sharing all that we have in store for the next 12 months! We will hear from organizations and companies around the globe that have special opportunities, programs and projects for patients and families affected by mitochondrial disease.
Join MitoAction and Dr. Madhu Davies from Reneo Pharmaceuticals for our February Monthly Mito Expert Series titled “Patients as Partners in Drug Development.”
About the Speaker: Dr. Madhu Davies, MB, ChB, MRCG,P FFPM, MBA, is the medical director at Reneo Pharmaceuticals. Previously, Madhu has served many roles at companies developing medicines to patients with rare . For more than 25 years, she has provided leadership and advisory services working in clinical development, safety, regulatory programs, gaining broad experience of drug development including biologics, small molecules and vaccines. Madhu has held significant pharmaceutical roles as medical director and CMO, in addition to medical affairs.
Madhu trained in medicine in the United Kingdom and maintains an active academic interest as Visiting Professor at Cardiff University; she is Director of the Postgraduate Course in Pharmaceutical Medicine and has also edited or contributed to several textbooks and journals.
Join MitoAction and David Keane from GeneDX for our December Monthly Mito Expert Series presentation titled: Mito Genetic Basics: Disease, Testing and Financial.
About the Speaker: David Keane has been involved with Neurogenetics since 1998 when he started working for Athena Diagnostics. He has attended over 50 Mitochondrial Disease Grand Rounds Presentations by Dr. Bruce Cohen, Sumit Parikh, Fran Kendall, Amy Goldstein, among others. David was hired by GeneDx in 2011 to help build the Neurogenetics team and currently serves as a Senior Genetic Testing Consultant specializing in Neurology and Mitochondrial Genetics.
Accompanying slides can be found by clicking here.
What is Mitochondrial Myopathy?
my·op·a·thy
mīˈäpəTHē/ The word “myopathy” means disease of the muscle tissue. As the term implies, mitochondrial myopathy (MM) is a neuromuscular disease caused by damage to the mitochondria. Many patients with mitochondrial disease have a mitochondrial myopathy, either as their sole diagnosis or as an additional, descriptive co-diagnosis as part of their mitochondrial disorder. Mitochondrial myopathy may be present in adults and children, and may occur with or without a genetic mitochondrial disease diagnosis. Further, several clinical trials are currently examining the impact of various therapies or potential treatments for people with mitochondrial myopathy.
Join us this month on Friday, November 20th at 12 pm EST with Dr. Bruce Cohen, Director of Pediatric Neurology and then the Director of the NeuroDevelopmental Science Center at Akron Children’s Hospital. Dr. Cohen is well-known and highly respected as an expert author, speaker, clinician and research investigator in mitochondrial disorders. Topics for this important discussion include:
- What is mitochondrial myopathy?
- How is it diagnosed?
- Are there treatments for mitochondrial myopathy? Other management strategies?
- What are the most common symptoms of mitochondrial myopathy?
- Who typically is diagnosed with mitochondrial myopathy?
About The Speaker
Dr. Bruce H. Cohen attended college at Washington University in St. Louis and a BA in chemistry, graduating summa cum laude in 1978. He received his medical degree from the Albert Einstein College of Medicine in Bronx, N.Y. in 1982 and went on to his pediatric residency at the Children’s Hospital of Philadelphia, followed by a residency in neurology at Columbia Presbyterian Medical Center in New York. He then obtained a two-year American Cancer Society fellowship in neuro-oncology at the Children’s Hospital of Philadelphia. In 1989 Dr. Cohen joined the Cleveland Clinic’s department of Neurology, and served as chief of Pediatric Neurology from 1999-2002, with joint appointments in the Clinic’s Taussig Cancer Center, the Eepartment of Neurosurgery and the department of Pediatrics. In 2011, he joined Akron Children’s Hospital in Akron, Ohio, as Director of Pediatric Neurology and then the Director of the NeuroDevelopmental Science Center. He serves in many leadership roles within Akron Children’s Hospital.
His specialty interests include adult and pediatric neuro-oncology, mitochondrial medicine, neurofibromatosis, neurometabolic diseases and pediatric neurology. He has served on a number of committees for the Children’s Oncology Group, the American Academy of Neurology (AAN), the Child Neurology Society. He currently serves as chairman of the Coding Subcommittee within the Medical Economics and Management Committee of the AAN, and Secretary-Treasurer of the CNS. His past leadership positions include Chairman of the Pediatric Section of the AAN, Chairman of the Practice Com
Many children and adults with mitochondrial disease experience significant gastrointestinal or digestive issues as part of their daily disease challenges. When considering the pros and cons of a feeding tube and struggling to identify the best diet for dysmotility, many parents, patients and families are confused by all of the possibilities. On December 4th, 2015, Thrive RX Clinical Specialist Kristen R. Roberts PhD RD shares about diet, dysmotility and tube feeding.
Topics for this presentation include:
- What are the benefits of nutrition support for someone with dysmotility?
- What type of assessment is needed in order to determine if a feeding tube (and enteral nutrition, or tube feeding) is right for me/my child?
- What strategies can help improve overall tolerance to diet and enteral nutrition in a person with mitochondrial disease and dysmotility?
- What are some examples of specific situations when enteral nutrition should be considered?
- This presentation is appropriate for adult patients, parents of affected children, caregivers, family members and healthcare providers.
About the Speaker
Kristen Roberts is an Assistant Professor of Clinical Medicine at The Ohio State University Wexner Medical Center and a Registered Dietitian specializing in gastrointestinal nutrition, intestinal failure and home nutrition support. She received her bachelor’s degree in Dietetics at Bowling Green State University and her Master’s degree and internship in Human Nutrition at Arizona State University. She completed her PhD in Human Nutrition at The Ohio State University where she studied the impact of dietary interventions for disease prevention. Kristen has spent most of her clinical years working with intestinal failure patients and specializing in intestinal rehabilitation and home parenteral nutrition. She is an active member in The Ohio Society for Parenteral and Enteral Nutrition and is the coauthor of the iThrive program, which is a nutritional guide for consumers with intestinal dysmotility. Kristen has spoken nationally on the management of acid/base imbalances in clinical practice, improving nutrition support education for physicians and the management of intestinal failure patients. In addition to these presentations, she has published several articles and book chapters dedicated to the clinical management of intestinal failure.
To view the accompanying slides, click here.
Join MitoAction and Matthew Klein and Francesco Bibbiani from PTC Therapeutics for our November Mito Expert Series presentation.
About the Speakers Matthew B. Klein, MD, MS, FACS is Chief Development Officer at PTC Therapeutics, Inc. Prior to joining PTC, Dr. Klein was CEO and Chief Medical Officer of BioElectron Technology Corporation, a biotechnology company focused on development of redox active small molecules for mitochondrial disease and related disorders of oxidative stress. Prior to joining BioElectron, Dr. Klein was the Auth-Washington Research Foundation Chair of Restorative Burn Surgery at the University of Washington. Dr. Klein completed his undergraduate degree at the University of Pennsylvania where he graduated summa cum laude and Phi Beta Kappa, and received his MD degree with honors from Yale University.
Francesco Bibbiani is a board-certified neurologist with over 20 year experience in clinical development between the pharmaceutical industry and the Experimental Therapeutic Branch (ETB) of the National Institute of Health (NIH), where we conducted proof of concept trials in several neurological indications. In his past positions, Francesco conducted various clinical trials in Alzheimer disease, epilepsy and liver disease, all studies that led to multiple regulatory submissions and approvals with the FDA, EMA and other global regulatory agencies. Currently, he is the Vice President of Clinical Development at PTC Therapeutics, where he is the clinical lead of the DMD and mitochondrial epilepsy projects. Francesco received his MD degree with honors from the University of Pisa, Italy where he also completed his residency program in Neurology, with honors.
The annual town meeting is our way of kicking off the new year by sharing all that is planned for the next 12 months. We’ll hear from organizations, camps, and companies around the globe that have special opportunities, programs, and projects for patients and families with mitochondrial disease.
The following will participate in the meeting!
- Courtagen Life Sciences, Inc.
- ThriveRx
- Camp Korey
- Mitochondrial Research Guild
- Mito Hope & Help
- Mito 411
- Genetic Metabolic Institute
- Massachusetts General Hospital
- Miracles for Mito
- Edison Pharma
- MitoQ
- Double H Ranch camp
- Reata Pharmaceuticals
- Foundation for Mitochondrial Medicine
- Victory Junction camp
- GeneDx
- UMDF
- MitoCanada
- AMDF (Australian Mitochondrial Disease Foundation)
- NIH
- Mitochondrial Medicine Society
- Stealth BioTherapeutics
What are fatty acid oxidation disorders, and why are they related to mitochondrial disorders?
Additional areas of discussion include:
- Do patients with mitochondrial defects also have the potential to have fatty acid oxidation defects?
- How do disorders of metabolism such as FAOD and mitochondrial disease impact the body’s ability to grow, develop and function?
- What is the current focus in research for understanding and treating FAODs?
Special appreciation to Ultragenyx Pharmaceutical for support of this presentation. About the Speaker Dr. Jerry Vockley, University of Pittsburgh Cleveland Family Professor of Pediatric Research and Professor of Human Genetics at the Children’s Hospital of Pittsburgh of UPMC. Dr. Vockley is the Chief of Medical Genetics and Director of the Center for Rare Disease Therapy.
To view the accompanying slides, click here.
A conversation with the public policy team for the National Organization for Rare Disorders (NORD).
Topics of discussion will include:
- Current federal and state legislative priorities for NORD;
- NORD’s interaction with the Food & Drug Administration, National Institutes of Health and the Center for Medicare & Medicaid Services;
- Status of issues important to the Mito community, including mandated insurance coverage for medical foods, vitamins and supplements used to treat rare diseases and legislation relating to orphan drugs;
- How NORD works with families on legislation, including NORD’s legislative priorities as well as issues families bring to NORD; and
- What patients and families can do to make sure their voices are heard on issues that are important to them.
NORD is a non-profit organization which supports individuals with rare diseases through advocacy, education, research grants and networking among service providers. NORD’s Washington, D.C.-based policy team provides a consistent voice for rare disease patients and families on Capitol Hill and beyond.
Speakers include Martha Rinker JD, VP of Public Policy, Paul Melmeyer, Assistant Director of Public Policy, and Tim Boyd, Associate Director of Public Policy.
Attachments:
NORD Supported Legislation 2016 RDD.pdf NORD State Legislative Priorities 2016.pdf
About The Speaker
Martha Rinker JD is NORD’s Vice President of Public Policy leading the public policy team on matters affecting the rare disease community. Martha is responsible for all Federal and State legislative and regulatory issues and the development and implementation of advocacy strategy and relationships with key stakeholders. Prior to joining NORD, Ms. Rinker was the Chief Advocacy Officer for the American Association of Diabetes Educators (AADE), the Legislative Counsel and Senior Director of Policy, Practice and Advocacy for the American Podiatric Medical Association (APMA) and the Director of Government Relations for the American Orthotic and Prosthetic Association (AOPA). In addition, Ms. Rinker was the Legislative Director for Congresswoman (now Senator) Barbara Mikulski of Maryland and held staff positions with both the Pennsylvania Senate and the Maryland General Assembly.
Paul Melmeyer currently serves as the Assistant Director of Public Policy at the National Organization for Rare Disorders. In this role, Paul leads the Federal policy operations in developing and advocating for the enactment and implementation of pro-rare disease patient policy. Prior to joining NORD, Paul held positions with the Center for Amer
As patients or caregivers, it is frightening to think about what would happen if we could not advocate for ourselves. Fortunately, there are legal documents that can be used to communicate our wishes under such circumstances. This type of legal preparation is called incapacity planning and guardianship.
Annette Hines, Esq., founding partner of the Special Needs Law Group of Massachusetts, will be speaking on the basics of incapacity planning and guardianship and will answer any questions patients or caregivers may have about this type of legal preparation. Questions to be answered include:
- What is a power of attorney?
- Why do you need to create different power of attorney documents for finances and health care?
- What happens if you do not have power of attorney documents set up in advance?
- What is a guardian, and why would you need for one to be designated?
- What documents are required to appoint someone as a guardian?
To view the accompanying slides, click here.
Dr. Amy Goldstein provides an update on the Mitochondrial Medicine Society.
Areas of discussion include:
- Transplantation in Mito patients
- Stroke protocol for MELAS
- Standards of care for Mito patients
Centers of Excellence and the need for community involvement/input
About the Speaker
Dr. Amy Goldstein, a member of the Board of Trustees of UMDF, is on faculty at Children’s Hospital of Pittsburgh of UPMC in the Division of Pediatric Neurology. She is board certified in pediatrics, neurology, and psychiatry with Special Qualifications in Child Neurology. She is currently an Assistant Professor at the University of Pittsburgh School of Medicine. She began a multidisciplinary Mitochondrial Disease clinic in 2007 and is now the Director of Neurogenetics & Metabolism and the site Principle Investigator for NAMDC (the North American Mitochondrial Disease Consortium). She is also President of the Mitochondrial Medicine Society. Her clinical research interests include improving fatigue and exercise intolerance as well as developing common patient-centered outcome measures for clinical trials.
To view the accompanying slides, click here.
Summertime is a time of changed routines for many Mito families. Camp programs, such as those supported by the Matthew Harty Camper Fund, provide special opportunities for children with mitochondrial disease. Mitochondrial disease patients often qualify for and benefit from extended school year services through local school systems as well. Documenting the child’s needs to care providers as well as knowing your family’s rights to extended school year services can make a huge difference in your child’s summer experience.
Annette Hines, Esq., founding partner of the Special Needs Law Group of Massachusetts, will be speaking on the basics of extended school year planning and will answer any questions patients or caregivers may have about summertime planning.
Questions to be answered include:
- Does my child qualify for extended school year services?
- How do I obtain extended school year services for my child?
- How does extended school year planning fit into the IEP process?
- What do I need to do to make sure my child’s needs are met at summer camp?
To view accompanying slides, click here.
Join MitoAction and Dr. Irina Anselm for our October Mito Expert Series presentation titled, “Overlap Between Mitochondrial Disorders and Disorders of Neurotransmitter Metabolism”. This presentation is brought to you by PTC Therapeutics.
About the Speaker Irina A. Anselm, MD, is Director of the Mitochondrial Program and Co-Director of the Neurometabolic Program at Boston Children’s Hospital. A pediatric neurologist with special interest in genetics and hereditary disorders, she cares for children with neurometabolic, neurodegenerative, and mitochondrial disorders. She serves as the Department of Neurology’s clinical expert for Boston Children’s Precision Medicine Service. Her research focuses on the genetics, diagnosis, and management of these disorders, which range from mild to devastating. She is the Principal Investigator of a study investigating the use of experimental drug dichloroacetate (DCA) as a treatment for chronic elevation of blood lactate levels resulting from mitochondrial disorders. She is a Co-investigator on a multicenter trial for treatment of patients with mitochondrial disorders with intractable seizures. She also is a Co-investigator on a natural history study of patients with creatine transporter deficiency. She has a special interest in disorders of neurotransmitter metabolism and works closely with a company that developed gene therapy for one of these disorders. Major publications include 35 original reports in peer-reviewed journals and 4 chapters, and she is a reviewer for the Journal of Pediatric Neurology, Current Pediatric Reviews, and the Journal of Child Neurology.
To view the accompanying slides, click here.
Join MitoAction and featured guest Kyle Bryant of the Two Disabled Dudes for a community call to encourage and inspire you as we kick off Mitochondrial Disease Awareness Week! The topic of the call will be: Life Is About How We React – including themes of overcoming obstacles, people-first language, and self image. There will be a Q&A following the discussion.
About Kyle
At age 17 Kyle Bryant was devastated when he was diagnosed with a rare, debilitating, life-shortening disease called Friedreich’s Ataxia. Walkers, wheelchairs, vision loss, hearing loss and a pre-mature death were all in his future.
However, Kyle took this bleak situation and turned it into an opportunity to provide hope to the FA community and empower others, riding his recumbent trike thousands of miles and raising millions for FA research.
Now, Kyle shares his outlook about how to turn adversity into opportunity in his keynote speeches. Kyle is sure to change perspectives and inspire your audience to action.
Kyle graduated from University of California at Davis with a degree in Civil Engineering. Worked 5 years as an engineer before finding his calling through cycling and spreading empowerment to others. As the founder/director of rideATAXIA for the Friedreich’s Ataxia Research Alliance (FARA), Kyle and his team produce family friendly bike rides across the country to empower those with FA and raise funds for research. rideATAXIA currently has 6 locations nationwide and has raised over $7 million for FA research since 2007. Kyle’s favorite place to be is on his Catrike and he is probably on the road or bike trail at this very moment.
Join MitoAction and Gena Padgett, a licensed school psychologist for our August Monthly Mito Expert Series presentation titled IEP Considerations for Students with Mitochondrial Disorders.
About the Speaker:
Gena Padgett is a licensed school psychologist and teacher for the Deaf and hard of hearing in the state of Indiana. She completed her Bachelor’s degree in Deaf Education at Converse College in Spartanburg, South Carolina and received her Master’s degree in Linguistics from Gallaudet University in Washington, DC. Gena proceeded to Indiana State University in Terre Haute, Indiana where she received her training in School Psychology. She has been an educator for over 25 years with a specialty in evaluating students with low incidence disabilities and health conditions.
To view the accomanying slides, click here.
Friday, July 24
Auditorium – 2:00pm – Infection, Immunity and FAOD
About the Speaker
Dr. Peter McGuire received his MBBCh (with Honours) from the Royal College of Surgeons in Ireland in 2003. Following a combined residency in Pediatrics and Medical Genetics at Mount Sinai Medical Center in New York City, he remained as an Assistant Professor in the Program for Inherited Metabolic Diseases at Mount Sinai. Dr. McGuire is board certified in Pediatrics, Clinical Genetics and Biochemical Genetics.
In 2010, Dr. McGuire moved to the National Human Genome Research Institute (NHGRI) at the National Institutes of Health to join the Physician Scientist Development Program. He was appointed to the position of tenure track Investigator in 2016.
Throughout his career, Dr. McGuire has been focused on improving the care of patients with disorders of mitochondrial metabolism. By combining his training in Immunology and Biochemical Genetics, he has fashioned a translational research program to understand the interplay between mitochondrial metabolism and the immune system. As Head of the Metabolism, Infection and Immunity Section (MINIS) at NHGRI, Dr. McGuire and his team study the interplay between metabolism and the immune system in patients with inborn errors of mitochondrial metabolism. The group focuses on two aspects of immunometabolism:
1) Immune system activation and end-organ mitochondrial metabolism
The focus of the group’s research on immune system activation and end-organ metabolism is based on the clinical observation that infection is a major cause of morbidity and mortality in patients with mitochondrial disease. The MINIS uses animal models, combined with infectious organisms, to yield insights into the metabolic perturbations seen in disorders of mitochondrial metabolism during infection and to identify potential targets for intervention.
2) Role of mitochondria in immune cell function
The group also studies mitochondrial metabolism and immune cell function. Immune cells drastically alter their metabolic programming during activation and differentiation. The deficiencies present in patients with mitochondrial disease may affect these processes. The group developed a clinical protocol in the National Institutes of Health (NIH) Clinical Center, called the NIH MINI Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism (NIH Clinical Trial NCT01780168). Immune phenotypes identified in patients are further explored via animal and cell culture model systems. By expanding the immune phenotype of patients with mitochondrial disease, these studies will have an impact on the clinical care of patients as well as serving as the foundation for understanding the role of mitochondria in immune function.
Friday, July 24
Auditorium – 1:10pm – INFORM & FAOD Community Update
About the Speaker:
Cleveland Family Endowed Pediatric Research, School of Medicine
Professor of Human Genetics, Graduate School of Public Health
Chief of Medical Genetics, Children’s Hospital of Pittsburgh
Director of the Center for Rare Disease Therapy, Children’s Hospital of Pittsburgh
Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his degree in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia, Pennsylvania. He completed his pediatric residency at the University of Colorado Health Science Center, and his postdoctoral fellowship in Human Genetic and Pediatrics at Yale University School of Medicine in New Haven, Connecticut. Before assuming his current position in Pittsburgh, Dr. Vockley was Chair of Medical Genetics in the Mayo Clinic School of Medicine.
Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His current research focuses on mitochondrial energy metabolism, novel therapies for disorders of fatty acid oxidation and amino acid metabolism, and population genetics of the Plain communities in the United States. He has published over 270 peer reviewed scholarly articles, is the principle investigator on four NIH grants and a co-investigator on 7 others. He has an active clinical research program and participates in and consults on multiple gene therapy trials. Dr. Vockley has served on numerous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children where he was chair of the technology committee. He is co-chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). He also serves as chair of the Pennsylvania State Newborn Screening Advisory Committee and the American College of Medical Genetics Therapeutics Committee. He is a past president of the International Organizing Committee for the International Congress on Inborn Errors of Metabolism and the Society for the Inherited Metabolic Disorders (SIMD), and co-founder and editor of the North American Metabolic Academy.
Kristi Wees discusses medical homes for Mito patients.
Topics include:
- The importance of a medical home for a mitochondrial disease patient.
- Definition of a medical home.
- How to establish a medical home.
- Why a medical home is an essential component of good patient advocacy.
- Tips on maintaining a healthy medical home relationship.
Ms. Wees will describe theses issues primarily from a pediatric perspective, but she will give adult examples as well.
Ms. Wees is a patient advocate with Empowered Medical Advocacy. She assists parents and caregivers each week in navigating toward improved quality of life for their child and their families.
Dr. Tarnopolsky, Professor of Pediatrics and Medicine, President and CEO, Exerkine Corporation, and Director of Neuromuscular and Neurometabolic Clinic at McMaster University Medical Center, will discuss exercise and nutrition therapy for mitochondrial disease including:
- the theory and practical issues with endurance and resistance exercise therapy;
- general nutritional guidelines for mitochondrial disease;
- the rationale for the mitochondrial cocktail.
About The Speaker:
Mark Tarnopolsky, MD, PhD, FRDP(C), is the Clinical and Research Director of the Corkins/Lammert Family Neuromuscular and Neurometabolic Clinic at McMaster University. He holds an endowed chair at McMaster Children’s Hospital and Hamilton Health Sciences Foundation in Neuromuscular Diseases and is a Professor of Pediatrics and Medicine. He was co-founder of Life Science Nutritionals (LSN) and Chief Scientific Officer for LSN from 2006-2015. He is the founder (2015) and current president and CEO of Exerkine Corporation. He has received the Dr. David Green Award from the Muscular Dystrophy Association in 2005, the Barsky Lectureship for Excellence in Mitochondrial Medicine in 2007 and the honor award from the Canadian Society for Exercise Physiology 2008, the McMaster Distinguished Alumni Award for Science in 2012, and the International Biochemistry of Exercise Honor Award in 2015. His research focuses on nutritional, exercise, pharmacological, and genetic therapies for neurometabolic (primarily mitochondrial), neuromuscular, and neurogenetic disorders as well as diseases associated with aging. He has authored or coauthored more than 400 scientific articles and many book chapters and abstracts. He has also lectured widely in the area of neurology (neuromuscular and neurometabolic disorders), aging, and exercise physiology. He has served on several editorial and scientific boards (UMDF, MSSE, Mitochondrion, PLOS ONE, Barth Foundation) and has been on Grant Selection Committees for NSERC (Animal Biology, 2003-2006, Chair, 2006), CIHR Biology of Aging Committee (2006), CIHR Movement Committee (2012, 2013, 2015), and Chair of the Emerging Team Grant: Mobility in Aging (2007).
To view the accompanying slides, click here.
Dr. Darius Adams, a clinical geneticist, discusses molecular diagnostic testing for mitochondrial disorders.
Dr. Adams, Medical Director of the Goryeb Children’s Hospital Genetics and Metabolism Division in addition to the Personalized Genomic Medicine Program at Atlantic Health System in Morristown, NJ, will:
- Explore gene testing and discuss the rationale for using it as first-line testing.
- Review traditional diagnostic pathways.
- Discuss newer testing that has become available in recent years.
- Review new approaches to attempt to shorten time to diagnosis and increase precision.
About The Speaker:
Dr. Darius Adams completed his internship and residency in Genetics at the Mount Sinai Medical Center in New York City, where he received comprehensive training in genetics and dysmorphology. He remained at Mount Sinai for an additional year to complete a fellowship in Metabolic/Biochemical Genetics. Dr. Adams was certified as a Clinical Geneticist by the American Board of Medical Genetics in September 2002 and 2012 and as a Clinical Biochemical Geneticist in September 2005. Dr. Adams joined the Pediatrics Department at Albany Medical Center in July 2003 as an attending physician and an Assistant Professor. He is now Medical Director of the Goryeb Children’s Hospital Genetics and Metabolism Division in addition to the Personalized Genomic Medicine Program at Atlantic Health System in Morristown, NJ. He also directs the Lysosomal Storage Disease program at Atlantic Health System and follows patients with Gaucher, Fabry, Pompe and Morquio A.
To view the accompanying slides, click here.
Cheryl M. Clow RN discusses Getting Through the Day with Mito: Treatments, Supplements, and Humor.
Topics of discussion include:
- Patient care considerations and making the most of the energy you have each day.
- Reviewing activities of daily living, their impact on individuals with mitochondrial disorders, and planning ahead.
- Describing ways to lessen stress and boost the immune system.
About the Speaker
Cheryl is a registered nurse and has been Clinical Care Coordinator in the Department of Pediatrics at Albany Medical Center for 26 years. She worked in the Section of Pediatric Endocrinology for 13 years prior to working with the Section of Genetics and Inborn Errors of Metabolism, her current position since 2003. She has worked facilitating care of patients with mitochondrial disorders during that time, both pediatric and adult. She was voted Employee of the Year at Albany Medical Center in 2014, and the Albany Times Union’s “Salute to Nurses” Nurse of the Year Finalist two years in a row, 2015 and 2016. She is currently a member of the Medical Advisory Council for Make-A-Wish Northeast NY.
To view the accompanying slides, click here.
Greg Macpherson, CEO of MitoQ, discusses “Mitochondria and MitoQ: A Research Update.”
MitoQ’s mission is to raise awareness of mitochondria and the link between optimal mitochondria function, health, and longevity.
Topics of discussion include:
- What is MitoQ?
- Research Overview:
- Mitochondrial Disease and Dysfunction
- MitoQ
- Clinical implications
- Anti-aging research update
About The Speaker:
Greg Macpherson is Chief Executive Officer of MitoQ Ltd. He completed a Bachelor of Pharmacy at University of Otago School of Medicine in 1992. Subsequently he has been owner and director of a number of startup businesses that include New Zealand’s largest residential care services pharmacy, NZ’s first robotic dispensing laboratory, a pharmaceutical wholesaling company, and a software development company. He has been a partner and board member of a pharmacy chain associated with one of NZ’s leading retailers.
For accompanying slides, click here.
Dr. Michio Hirano, Chief of the Neuromuscular Division at Columbia University Medical Center, and Kris Engelstad MS CGC, a board-certified genetic counselor and program coordinator at Columbia University Medical Center, discuss Mitochondrial Replacement Therapy.
Learn more about MRT, also known in the media as three-person babies.
Topics of discussion include:
- Family planning options are severely limited for women carriers of DNA mutations in the mitochondrial genome.
- There is an urgent clinical need to develop IVF techniques to reduce/eliminate the transmission of mitochondrial genome DNA mutations from mother to offspring.
- Mitochondrial replacement therapy (MRT) is a promising technique for female carriers.
- Continued research and development of MRT is necessary for future clinical use.
- Adult female carriers and their male partners can participate in this research by donating oocytes/sperm for the production of viable zygotes using MRT.
About The Speakers
Dr. Michio Hirano is a Professor of Neurology and Chief of the Division of Neuromuscular Medicine at Columbia University Medical Center. For over 20 years, Dr. Hirano’s translational research focused on mitochondrial disease and inherited myopathies. His laboratory has identified novel causative genes for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), X-linked scapuloperoneal myopathy, primary coenzyme Q10 (CoQ10) deficiencies and has studied cell and mouse models of these and other diseases including thymidine kinase 2 (TK2) deficiency. He has also been investigating allogeneic hematopoetic stem cell transplantation for MNGIE, pharmacological therapies for TK2 deficiency and, with Kris Engelstad and Dr. Dieter Egli, mitochondrial replacement therapy. Since 2009, Dr. Hirano has directed the NIH U54-funded North American Mitochondrial Disease Consortium (NAMDC).
Kris Engelstad MS CGC, is a board-certified genetic counselor and a program coordinator at Columbia University Medical Center. For the past 15 years she has focused on clinical research in mitochondrial disorders, including: several clinical trials, natural history studies, NAMDC patient registry and biobank, and the Mitochondrial Replacement Therapy Survey. She provides genetic counseling services for various clinical trials, a pediatric neuromuscular clinic and for adult and pediatric patients with mitochondrial disorders.
For accompanying slides, click here.
uy Miller, BioElectron’s CEO, and Matthew Klein, its Chief Medical Officer, will discuss the following:
- Challenges in the development of drugs for mitochondrial disease
- Status of BioElectron mitochondrial disease programs
- Next steps
About The Speaker:
Guy Miller, MD, PhD is Founder, Chairman, and Chief Executive Officer of BioElectron Technology Corporation. BioElectron is a technology company focused on biological energy. Dr. Miller holds a PhD in chemistry and an MD, with subspecialty training in critical care medicine. He completed his surgical internship at University of Chicago, and completed his residency and fellowship training at Johns Hopkins, where he was an assistant professor. His research has been funded by numerous organizations including DARPA. He is an attending physician in medical surgical critical care at Stanford University Medical Center/VAPAHCS.
Matthew B. Klein, MD, MS, FACS is Chief Medical Officer of BioElectro Technology Corporation. He received his MD degree from Yale University and completed his surgical training at Stanford University. He also holds a Master’s degree in Epidemiology. Dr. Klein most recently held the David and Nancy Auth-Washington Research Foundation Endowed Chair for Restorative Burn Surgery at the University of Washington where he was a professor of surgery and epidemiology. His clinical and research expertise spans several fields, including skin biology, wound healing, systemic inflammatory disorders, clinical trials, and nutrition. Dr. Klein has authored or co-authored over 80 peer-reviewed manuscripts and 15 book chapters related to these areas, and sits on the editorial review boards of several prominent biomedical journals. He is currently a clinical associate professor at Stanford University.
For accompanying slides, click here.
Richard Frye, MD, PhD, FAAP, FAAN, CPI, discusses how Enteric (gut) Microbiome Modulates Mitochondrial Function.
Talking points include:
- The enteric (gut) microbiome has an important influence on health and disease states in humans.
- The enteric microbiome influences the human host using chemical mediators, some of which can directly affect mitochondrial function
- Short chain fatty acids produced by gut bacteria not only modulate mitochondrial function and cellular regulatory pathways, but can also be used as mitochondrial fuels.
About The Speaker
Dr. Richard Frye is the Director of Autism Research at Arkansas Children’s Hospital Research Institute, Director of the Autism Multispecialty Clinic, and Co-Director of the Neurometabolic Clinic at Arkansas Children’s Hospital and Associate Professor in Pediatrics at the University of Arkansas for Medical Sciences. He received his MD/PhD from Georgetown University in 1998. He completed a residency in Pediatrics at the University of Miami, Residency in Child Neurology, and Fellowship in Behavioral Neurology and Learning Disabilities at Harvard University/Children’s Hospital Boston and Fellowship in Psychology at Boston University. He holds board certifications in Pediatrics, and in Neurology with Special Competence in Child Neurology. Dr. Frye is a national leader in autism research. He has authored over 100 peer-reviewed publications and book chapters, and serves on several editorial boards of prestigious scientific and medical journals.
Over the past several years he has completed several clinical studies on children with autism spectrum disorder (ASD), including studies focusing on defining the clinical, behavioral, cognitive, genetic, and metabolic characteristics of children with ASD and mitochondrial disease and several clinical trials demonstrating the efficacy of safe and novel treatments that address underlying physiological abnormalities in children with ASD, including open-labels on tetrahydrobiopterin, cobalamin and folinic acid and a recent double-blind placebo controlled trial on folinic acid. Future research efforts are focused on defining physiological endophenotypes of children with ASD and developing targeted treatments.
For accompanying slidies, click here.
Dr. Mark Korson discusses: “Medical Care: What Approach Works for You?”
Talking points include:
- Pros and cons of conventional live direct care
- Telemedicine long-distance direct care options
- Telehealth physician-to-physician clinical support (indirect care)
About The Speaker
Dr. Mark Korson graduated from the University of Toronto School of Medicine and completed his pediatric residency nearby at The Hospital for Sick Children. After his fellowship in genetics and metabolism at Boston’s Children’s Hospital, he became director of the Metabolism Clinic at Children’s until 2000. In 2000, Dr. Korson became director of the Metabolism Service at Tufts Medical Center’s Floating Hospital for Children, as well as Associate Professor of Pediatrics at Tufts University School of Medicine until 2014.
Dr. Korson promotes an educational approach to address the growing crisis in metabolic health care due to the shortage of available clinicians to treat this patient community. In 2007, Dr. Korson co-founded the North American Metabolic Academy, an annual one-week intensive course about metabolic disease for genetic and metabolic trainees; to date, more than half of all American genetic trainees have enrolled in this course. NAMA is sponsored by the Society for Inherited Metabolic Disorders.
Between 2007 and 2011, Dr. Korson directed the Metabolic Outreach Service, based at Tufts Medical Center, for which he traveled on a regular basis to five teaching hospitals in the northeastern US without an on-site metabolic service. In 2015, Dr. Korson co-founded the Genetic Metabolic Center for Education (GMCE), a comprehensive, multi-modal initiative for improving the level of care for children and adults with metabolic disease. This past October, Dr. Korson joined VMP Genetics in Atlanta to promote telehealth metabolic consulting, assisting physicians in the care of their metabolic patients. He continues to develop innovative resources to help educate specialists and their trainees so they can participate more in the diagnosis and management of metabolic disease.
Dr. Fran Kendall of VMP Genetics discusses “Is it really Mito? When an alternative diagnosis should be considered.”
Talking points include:
- Clinical red flags that suggest an alternative diagnosis should be considered;
- Why that option should be entertained;
- Tools utilized to reanalyze patients classified with mitochondrial disease.
About The Speaker:
Dr Fran Kendall is a Harvard-trained board-certified Clinical Biochemical Geneticist who founded the very first clinical mitochondrial disease program in the United States in the early 1990s. Over her 25-plus-year career specializing in metabolic, mitochondrial, and inherited disorders, she:
- founded one of the first commercial laboratories focused on rare metabolic and mitochondrial disorders;
- was the head of genetics for a large hospital system in Atlanta;
- co-founded a mitochondrial foundation that is still very active;
- pioneered telemedicine and private practice in rare genetics by founding VMP Genetics;
- authored chapters on mitochondrial medicine for medical texts and numerous research articles;
- lectures at medical schools and nursing schools on these disorders;
- is a frequent guest speaker at medical conferences on mitochondrial disease and autism;
- often acts as an expert witness in Federal court cases;
- and has appeared on national news outlets to offer expert opinion.
She currently sees children and adults patients from around the world in either her VMP Genetics clinic in Atlanta, GA or by telemedicine and has over 20,000 fans of her medical Facebook site. View slides on our website here.
Talking points include:
- The mtDNA has a unique quantitative genetics
- Different mtDNA mutations can result in very different symptoms
- The high copy number of mtDNA can result in heterplasmy which can result in highly variable symptoms
- Ancient mtDNA variants also contribute to common diseases such as autism, diabetes, and Alzheimer Disease
About The Speaker:
Douglas C. Wallace, Ph.D.
Michael and Charles Barnett Endowed Chair in Pediatric Mitochondrial Medicine and Metabolic Disease
Director, Center for Mitochondrial and Epigenomic Medicine (CMEM) Children’s Hospital of Philadelphia
Professor, Department of Pathology and Laboratory Medicine University of Pennsylvania
Colket Translational Research Building, Room 6060 3501 Civic Center Boulevard, Philadelphia, PA 19104
Douglas C. Wallace founded the field of human mitochondrial DNA (mtDNA) genetics and demonstrated that mtDNA variation has profound implications for human health and disease, the origins and ancient migrations of our ancestors, human and animal adaptation, and perhaps the origin of species. Starting in the early 1970s, he demonstrated that the mtDNA codes for inherited traits by developing the transmitochondral cybrid system and demonstrating that mixtures of mutant and normal mtDNAs (heteroplasmy) affect cellular phenotypes through exceeding quantitative energetic thresholds. In family studies, he showed that the human mtDNA is exclusively maternally inherited, that the mtDNA sequence is highly polymorphic, and that mtDNA variation correlates with the geographic origins of indigenous peoples. Concurrently, he helped define the genes and proteins coded by the mtDNA and demonstrate their essential role in mitochondrial energy production. From this foundation, he was the first to identify inherited mtDNA mutations that result in disease, initially the mtDNA missense mutation that causes Leber Hereditary Optic Neuropathy (LHON) and the protein synthesis mutation that causes Myoclonic Epilepsy and Ragged Red Fiber (MERRF) disease. Since then he has identified multiple pathogenic mtDNA mutations causing diseases as diverse as diabetes, cardiovascular disease, and Alzheimer disease. Currently, his web-based mtDNA information service, MITOMAP, now lists hundreds of clinically relevant mtDNA mutations. Wallace also showed that the accumulation of mtDNA mutations in tissues correlates with aging and age-related diseases. Pursuing his discovery that different continental populations have different groups of mtDNA variants, Wallace spent 20 years surveying the mtDNA variation from populations around the world. By correlating mtDNA sequence differences between populations with their geographic locations, Wallace was able to reconstruct the origin and radiation of women and thus of Homo sapiens sapiens. This revealed that humans arose in Africa about 200,000 years ago, that only two mtDNAs successfully left Africa to colonize Eurasia and the Americas, and that functional mtDNA variants arose as humans moved into a new environments. This led Wallace to propose that mtDNA variation which modifies energy metabolism is a major factor in permitting humans and other animals to adapt to new environments. Since the mtDNA trees of the species studied coalesce back to a single mtDNA, Wallace has proposed that mtDNA variation may be the factor that permits subspecies to occupy marginal environments as a precursor to speciation. Wallace was also among the first to clone nuclear DNA-coded mitochondrial genes, to show their relevance to disease, and to demonstrate that variants in nDNA and mtDNA genes could interact to markedly affect and individual’s phenotype. He also demonstrated that regional mtDNAs when moved to new environments can p
Talking points include:
-
What are Standards of Care and why does the Mito community need such standards?
-
Review the MMS’s Standards of Care for Mitochondrial Disease and how they were developed.
- Outline upcoming MMS projects.
About The Speaker:
Dr. Amel Karaa is a board certified internist and clinical geneticist, director of the mitochondrial disease program at the Massachusetts General Hospital in Boston. She received the 2013 United Mitochondrial Disease Foundation (UMDF) Fellowship and is conducting clinical research and clinical trials for mitochondrial disease. She was recently elected president of the Mitochondrial Medicine Society and sits on the scientific and medical board for MitoAction and the UMDF. Dr. Karaa is also on the board of Rare New England and the newly launched Mitochondrial Care Network. She is committed to being an advocate for her mitochondrial disease patients and their families and to educate adult providers in recognizing and treating mitochondrial patients within the community.
View slides on our website here.
Talking points include:
- What is the immune system and why is it important?
- Infection and mitochondrial disease
- Immune function in mitochondrial disease
About The Speaker:
Dr. Peter McGuire
Dr. Peter McGuire received his MBBCh (with Honours) from the Royal College of Surgeons in Ireland in 2003. Following a combined residency in Pediatrics and Medical Genetics at Mount Sinai Medical Center in New York City, he remained as an Assistant Professor in the Program for Inherited Metabolic Diseases at Mount Sinai. Dr. McGuire is board certified in Pediatrics, Clinical Genetics and Biochemical Genetics.
In 2010, Dr. McGuire moved to the National Human Genome Research Institute (NHGRI) at the National Institutes of Health to join the Physician Scientist Development Program. He was appointed to the position of tenure track Investigator in 2016.
Throughout his career, Dr. McGuire has been focused on improving the care of patients with disorders of mitochondrial metabolism. By combining his training in Immunology and Biochemical Genetics, he has fashioned a translational research program to understand the interplay between mitochondrial metabolism and the immune system. As Head of the Metabolism, Infection and Immunity Section (MINIS) at NHGRI, Dr. McGuire and his team study the interplay between metabolism and the immune system in patients with inborn errors of mitochondrial metabolism. The group focuses on two aspects of immunometabolism:
1) Immune system activation and end-organ mitochondrial metabolism
The focus of the group’s research on immune system activation and end-organ metabolism is based on the clinical observation that infection is a major cause of morbidity and mortality in patients with mitochondrial disease. The MINIS uses animal models, combined with infectious organisms, to yield insights into the metabolic perturbations seen in disorders of mitochondrial metabolism during infection and to identify potential targets for intervention.
2) Role of mitochondria in immune cell function
The group also studies mitochondrial metabolism and immune cell function. Immune cells drastically alter their metabolic programming during activation and differentiation. The deficiencies present in patients with mitochondrial disease may affect these processes. The group developed a clinical protocol in the National Institutes of Health (NIH) Clinical Center, called the NIH MINI Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism (NIH Clinical Trial NCT01780168). Immune phenotypes identified in patients are further explored via animal and cell culture model systems. By expanding the immune phenotype of patients with mitochondrial disease, these studies will have an impact on the clinical care of patients as well as serving as the foundation for understanding the role of mitochondria in immune function.
View slides on our website here.
The annual town hall meeting is our way of kicking off the new year by sharing all that is planned for the next 12 months. We’ll hear from organizations and companies around the globe that have special opportunities, programs, and projects for patients and families with mitochondrial disease.
We’ll hear from the following organizations:
- MitoAction
- Mitochondrial Medicine Society
- North American Mitochondrial Disease Consortium
- UMDF
- Acton Pharmacy
- Miracles for Mito
- Stealh BioTherapeutics
- Reata Pharmaceuticals
- Ultragenyx
- VMP Genetics
- BioElectron
- MitoCanada
- Astellas Pharmaceuticals
- ThriveRX
- GeneDX
- Columbia University Medical Center
- Oley Foundation
- CNNH NeuroHealth
- MitoQ
- Australian Mitochondrial Disease Foundation
One of the front-line treatment approaches to a mitochondrial disease is to use a combination, unique to each patient based on symptoms and diagnosis, of vitamins and supplements such as Coenzyme Q10, B-vitamins, L-Carnitine, Creatine, and Alpha Lipoic Acid.
Compounding pharmacists Saad Dinno and Ted Toufas from Acton Pharmacy will be discussing the ingredients which make up the mysterious “Mito Cocktail.”
Some talking points will include:
- What is a compounding pharmacist?
- How do ingredients in the Mito Cocktail differ from a compounding pharmacist than an over-the-counter source?
- What are the side effects of the vitamins & supplements used to support adults and children with mitochondrial disease?
- Which vitamins and supplements are most commonly included in a treatment regimen?
About The Speaker:
Ted Toufas, BS, PharmD, RPh
Ted Toufas BS, PharmD, RPh, Clinical Pharmacist and Pharmacist-in-Charge Compounding Lab at Acton Pharmacy, and Adjunct Assistant Professor, graduated in 2004 from WPI with a degree in Biochemistry, and in 2011 earned his Pharmacy Doctorate from Mass College of Pharmacy in Boston. He has worked in the compounding lab at Acton Pharmacy since 2005 as a technician, intern, and pharmacist.
Over the years, he has built close relationships with his patients and providers, working closely with them to develop dosage forms that meet individualized needs. He has worked with mitochondrial providers and patients, trying to match the best formulation for taste and dosage form for ease of use. In addition, he has developed formulations, training for staff, and protocols for the lab.
While he has been at Acton, the lab has received accreditation by the Pharmacy Compounding Accreditation Board (a voluntary national inspection), UCAP (another voluntary national inspection, geared for insurances), and high marks in a National Association of Boards of Pharmacy inspection (required for UCAP accreditation). He continues to strive for improvement through training and education, both in pharmacy compounding and regulations.
Saad Dinno, RPh
Saad Dinno, RPh, FIACP, FACA, has given lectures on mitochondrial disease across the country as well as in Australia. His staff works with patients and their providers on insurance coverage issues, compliance, taste, dosage form, counseling on the medications being dispensed, and other relevant Mito information and general questions.
He is a member of the Massachusetts Independent Pharmacy Association, Massachusetts Pharmacist Association, National Community Pharmacist Association, and International Academy of Compounding Pharmacists. He is the past president of the Massachusetts Independent Pharmacy Association and previously served on the Professional Compounding Centers of America (PCCA) Advisory Board.
Saad has received numerous awards, including being named the Margaret Bauman Outstanding Medical Professional for his work serving the autism community.
He was also named Massachusetts Innovative Pharmacist of the Year, PCCA Pharmacist of the Month, and received a Fellowship distinction from the International Academy of Compounding Pharmacists. Additionally, Saad serves on Emerson Hospital’s Care Transition Collaborative Committee, the Eliot Community Human Rights Committee, Cardinal Distribution East Advisory Board and the MitoAction Marcel Way Fund Committee. He received his Bache
Join MitoAction and Dr. Frank Kendall to discuss Direct to Consumer genetic testing (DTC testing) in detail. Some talking points will include:
- Strengths and limitations of DTC testing.
- Studies and data surrounding follow-up confirmatory genetic testing completed in patients with variets identified in DTC testing.
About The Speaker:
Dr. Fran Kendall is one of the pioneers in the field and is a Harvard-trained board-certified Clinical Biochemical Geneticist who founded the very first clinical mitochondrial disease program in the United States. Over decades of a career specializing in Metabolic, Mitochondrial, and Inherited Disorders, she: founded one of the first commercial laboratories focused on rare metabolic and mitochondrial disorders; pioneered telemedicine and private practice in rare genetics by founding VMP Genetics which has branched into 3 divisions (Direct Patient Care, Education, Physician to Physician Support); was the head of genetics for a large hospital system; authored chapters on mitochondrial medicine for medical texts and numerous research articles; lectures at medical schools and nursing schools on these disorders; is a frequent guest speaker at medical conferences on mitochondrial disease and autism; often acts as an expert witness in Federal court cases; and has appeared on national news outlets to offer expert opinion.
She currently sees children and adult patients from around the world in either her VMP Genetics clinic offices in Atlanta, GA or by telemedicine.
Join MitoAction and Dr. Richard Frye to discuss the distinction between primary and secondary mitochondrial diagnosis. Some talking points will include:
- Primary mitochondrial disease (PMD) is ideally diagnosed by a known or indisputably pathogenic mitochondrial or nuclear DNA mutation.
- Secondary mitochondrial dysfunction (SMD) can be caused by genes encoding either function nor production of the oxphos proteins and accompanies many heriditary non-mitochondrial diseases.
- Secondary mitochondrial dysfunction (SMD) can also be caused by enviornmental factors.
- In the absence of the ability to diagnose a primary mitochondrial disease (PMD), mitochondrial dysfunction can be effectively treated with standard treatments for PMD.
- When the etiology of mitochondrial dysfunction is unknown, re-evaluation for genetic and other causes should be revisited on a regular basis.
About The Speaker:
Dr. Richard Frye is a pediatric neurologist and Chief of the Division of Neurodevelopmental Disorders at Phoenix Children’s Hospital. He received his MD/PhD from Georgetown University in 1998. He completed a residency in Pediatrics at the University of Miami, Residency in Child Neurology and Fellowship in Behavioral Neurology and Learning Disabilities at Harvard University/Children’s Hospital Boston and Fellowship in Psychology at Boston University. He holds board certifications in Pediatrics, and in Neurology with Special Competence in Child Neurology. Dr. Frye is a national leader in autism research. He has authored over 100 peer-reviewed publications and book chapters, and serves on several editorial boards of scientific and medical journals.
Mitochondrial Disease can impact in many ways both an individual and everyone who cares for them:
- Health care needs
- Emotional support
- Basic needs
- Community Services
Join us as we review the range of programs and services that can help to lessen the toll of this diagnosis, and also to hear from YOU: what has made a difference for you and your family!
About The Speaker
Mary Castro-Summers
Mary is the parent of 3 adult sons. Her youngest son was born with complex health needs. For the past 30 years, she has relied on research skills honed as a paralegal with her personal and then professional work experience with the New England Regional Genetics Group, the FIRST Project at the University of Massachusetts Medical School, Family TIES of Massachusetts, and now Franciscan Children’s in Brighton, MA.
As a member of the committee that reviews applications for The Marcel’s Way Family Fund at MitoAction for the past 5 years, Mary has learned of the impact of mitochondrial disease and has assisted many families in finding local community resources to address their needs.
Mary is passionate about community resource information-sharing and making connections among families supporting children and adults who have special health care needs. She was personally supported by others and enjoys packing back those acts of kindness. Her motto in this work is, “you may be caring for your loved one by yourself, but you should never feel alone.”
About the Speaker
Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his degree in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia. He is internationally recognized as a leader in the field of inborn errors of metabolism and fatty acid oxidation disorders research. Dr. Vockley’s current research focuses on the molecular architecture of mitochondrial energy metabolism, in which he is breaking new ground in describing the role of dysfunction of mitochondrial energy metabolism in such common conditions as diabetes, obesity, and Alzheimer disease. Dr. Vockley teaches at the University of Pittsburgh in both the Medical School and Graduate School of Public Health.
Join MitoAction’s CEO, Kira Mann and Karen’s CEO, Dave Williams for a step-by-step tutorial to get started using the MitoAction Mobile App platform. This tool will help you manage your day-to-day with mito and help us learn more about the daily challenges you face living with this rare disease.
The annual town hall meeting is MitoAction’s way of kicking off the new year by sharing all that we have in store for the next 12 months! We will hear from organizations and companies around the globe that have special opportunities, programs and projects for patients and families affected by mitochondrial disease.
“The Power of Rare Disease Advocacy”
Advocates are the key to creating real change. Learn the power that you as a patient and caregiver have, what you can do to move the needle for your rare disease and how to get more involved!
About the Speaker
Shannon von Felden is the Director of Rare Disease Legislative Advocates, a program of the EveryLife Foundation for Rare Diseases. She works with rare disease advocates across the country to engage at the local, state, and federal level. She began her career on Capitol Hill as a Legislative Assistant for Congresswoman Shelley Berkley (NV) working on health care and veterans affairs issues. Shannon has worked with national nonprofit organizations to further their policy and advocacy goals including Juvenile Diabetes Research Foundation and National Osteoporosis Foundation. She received her Master of Public Policy from American University.
“Understanding the New Recommendations on the Safety of Drug Use in Patients with a Primary Mitochondrial Disease”
Clinical guidance is often sought when prescribing drugs for patients with primary mitochondrial disease. Theoretical considerations concerning drug safety in patients with mitochondrial disease may lead to unnecessary withholding of a drug in a situation of clinical need. The aim of this new study was to develop consensus on safe medication use in patients with a primary mitochondrial disease.
About the Speaker
Dr. Amel Karaa is a board-certified internist and clinical geneticist, director of the mitochondrial disease programs at the Massachusetts General Hospital in Boston (The Mito Clinic). She received an international baccalaureate in biology and chemistry (magna cum laude) from the Franzoesiches Gymnasium in Berlin and a medical degree (summa cum laude) from the Universite of Medicine et Pharmacy de Tunis in Tunisia. She has also completed her internal medicine residency and clinical genetic and metabolism fellowship through Harvard-wide programs. She received the 2013 United Mitochondrial Disease Foundation (UMDF) Fellowship and is currently overseeing clinical care for pediatric and adult mitochondrial disease patients and conducting clinical research and clinical trials for mitochondrial disease. She was elected president of the Mitochondrial medicine Society in June of 2018 and sits on the scientific and medical board of the Mitochondrial Disease Action Committee (MitoAction) and the United Mitochondrial Disease Foundation (UMDF). Dr. Karaa is also a founder and a board member of newly launched Mitochondrial Care Network (MCN), a US-wide network developing centers of excellence for mitochondrial disease and a principal site investigator for the North American Mitochondrial Disease Consortium (NAMDC). She is committed to being an advocate for her mitochondrial disease patients and their families, to educate health care providers in recognizing and treating mitochondrial patients within the community and to be a catalyst for bringing a much-needed cure to this population of patients.
Join MitoAction and Annette Hines on April 3, 2020 for our April Monthly Mito Expert Series.
Ins and Outs of Social Security
Navigating Supplemental Security Income (SSI) and Social Security Disability Insurance (SSDI) can be overwhelming. This session will be an overview of rules and regulations of both programs, especially for working adults, as well touching on some other public benefits options.
About the Speaker
Annette M. Hines is the founding partner of Special Needs Law Group of Massachusetts, PC and has been practicing in the areas of Special Needs, Elder Law and Estate Planning for over twenty years. Her clients include individuals and families of children with special needs, the elderly, and others in the community. She received her BA for the University of Vermont, her MBA from Suffolk University, and her JD from Howard University School of Law.
Ms. Hines brings personal experience with special needs to her practice, as the mother of two daughters, one of whom passed away from Mitochondrial disease in November 2013. This deep personal understanding of special needs fuels her passion for quality special needs planning and drives her dedication to the practice.
Recognized as a Distinguished Citizen by ARC Massachusetts and cited for public service by both the Massachusetts State Senate and House of Representatives, Ms. Hines works tirelessly on behalf of people with disabilities. She was designated a 2016 Top Women of Law from Massachusetts Lawyers Weekly and has been named to the Massachusetts Super Lawyers list every year since 2014.
Ms. Hines is a frequent expert speaker and a regular contributor to ThriveGlobal. She is also the host of the weekly podcast Parenting Impossible: The Special Needs Survival Podcast, where she offers inspiration, support, expertise, and a wide range of discussions that will help you survive and thrive as you support your loved one with special needs.
Ms. Hines is also the author of Butterflies and Second Chances: A Mom’s Memoir of Love and Loss, the inspiring true story of a mother’s special needs journey, and her struggle to secure the best possible life for her child in the face of bureaucratic resistance and marital crisis. It is a story of sacrifice, dedication, and the life-altering adjustments a special needs parent has to make when confronted with the unthinkable. But most of all, it’s about love and an extraordinary mother-daughter relationship that flourished without words in the darkest shadows of adversity.
Join MitoAction and Dr. Jerry Vockley from UPMC Children’s Hospital of Pittsburgh for a Q & A to discuss your questions and concerns about the impact of COVID-19 for Fatty Acid Oxidation Disorders.
If you have any additional questions that were not answered here, you can submit them to the "Ask the Expert" section on the INFORM website!
About the Speaker:
Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his degree in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia. He is internationally recognized as a leader in the field of inborn errors of metabolism and fatty acid oxidation disorders research. Dr. Vockley’s current research focuses on the molecular architecture of mitochondrial energy metabolism, in which he is breaking new ground in describing the role of dysfunction of mitochondrial energy metabolism in such common conditions as diabetes, obesity, and Alzheimer disease. Dr. Vockley teaches at the University of Pittsburgh in both the Medical School and Graduate School of Public Health.
Dr. Douglas Wallace, the Director of The Center for Mitochondrial and Epigenomic Medicine at Children’s Hospital of Philadelphia (CHOP) presents on Mitochondrial Genetics and Diseases for our June Monthly Mito Expert Series presentation!
About the Speaker
Douglas C. Wallace founded the field of human mitochondrial DNA (mtDNA) genetics and demonstrated that mtDNA variation has profound implications for human health and disease, the origins and ancient migrations of our ancestors, human and animal adaptation, and perhaps the origin of species. Starting in the early 1970s, he demonstrated that the mtDNA codes for inherited traits by developing the transmitochondral cybrid system and demonstrating that mixtures of mutant and normal mtDNAs (heteroplasmy) affect cellular phenotypes through exceeding quantitative energetic thresholds. In family studies, he showed that the human mtDNA is exclusively maternally inherited, that the mtDNA sequence is highly polymorphic, and that mtDNA variation correlates with the geographic origins of indigenous peoples. Concurrently, he helped define the genes and proteins coded by the mtDNA and demonstrate their essential role in mitochondrial energy production. From this foundation, he was the first to identify inherited mtDNA mutations that result in disease, initially the mtDNA missense mutation that causes Leber Hereditary Optic Neuropathy (LHON) and the protein synthesis mutation that causes Myoclonic Epilepsy and Ragged Red Fiber (MERRF) disease. Since then he has identified multiple pathogenic mtDNA mutations causing diseases as diverse as diabetes, cardiovascular disease, and Alzheimer disease. Currently, his web-based mtDNA information service, MITOMAP, now lists hundreds of clinically relevant mtDNA mutations. Wallace also showed that the accumulation of mtDNA mutations in tissues correlates with aging and age-related diseases. Pursuing his discovery that different continental populations have different groups of mtDNA variants, Wallace spent 20 years surveying the mtDNA variation from populations around the world. By correlating mtDNA sequence differences between populations with their geographic locations, Wallace was able to reconstruct the origin and radiation of women and thus of Homo sapiens sapiens. This revealed that humans arose in Africa about 200,000 years ago, that only two mtDNAs successfully left Africa to colonize Eurasia and the Americas, and that functional mtDNA variants arose as humans moved into a new environments. This led Wallace to propose that mtDNA variation which modifies energy metabolism is a major factor in permitting humans and other animals to adapt to new environments. Since the mtDNA trees of the species studied coalesce back to a single mtDNA, Wallace has proposed that mtDNA variation may be the factor that permits subspecies to occupy marginal environments as a precursor to speciation. Wallace was also among the first to clone nuclear DNA-coded mitochondrial genes, to show their relevance to disease, and to demonstrate that variants in nDNA and mtDNA genes could interact to markedly affect and individual’s phenotype. He also demonstrated that regional mtDNAs when moved to new environments can predispose to a wide range of complex diseases. Wallace was the first to develop mouse models of mitochondrial disease and to invent a procedure for introducing mtDNA mutations into the mouse female germline. This revealed that single mtDNA base changes were sufficient to produce the common metabolic and degenerative disease phenotypes. Thus, Wallace has provided compelling evidence that mtDNA variation is central to health and the common diseases.
Awards and Honors – In recognition of his seminal contributions to human and mammalian genetics, Wallace was elected to membership in the National Academy of Science in 1995, the American Academy of Art
MitoAction asked Maggie Orr, RN MSN EdM, Medical Advisory Board Member to join us to collaborate about heat intolerance and its causes. We will discuss:
- What is heat intolerance, dysautonomia?
- Why is it such an important issue for people with mitochondrial disease?
About the Speaker
Maggie is the nurse coordinator in the Metabolism Service at the Floating Hospital for Children at Tufts Medical Center. She trained as a Family Nurse Practitioner at Yale School of Nursing and did primary care before staying home to care for her daughter, Mamie Rose, who died of mitochondrial disease (Complex I defect) in 2003. She has undergraduate degrees in Spanish and Early Childhood Education from Arizona State University, and a master’s in education from Harvard Graduate School of Education.
MitoAction welcomes Dr. David Holtzman to discuss “dysautonomia”.
Dysautonomia is a failure of the autonomic nervous system to regulate certain body functions, such as heart rate, blood pressure, temperature, respiration, digestion, etc. The dysautonomia information network (www.dinet.org) offers information about several types of dysautonomia, including POTS (postural orthostatic tachycardia syndrome). Experienced by many people with mitochondrial disease, POTS is basically a dramatic increase in heart rate upon standing, and may result in dizziness, nausea, and other uncomfortable symptoms.
Many adults and children with mitochondrial disorders experience such symptoms related to dysregulation of the autonomic nervous system. Symptoms may be puzzling, such as abnormal sweating or body temperatures, or may affect quality of life. For some people, constant nausea, dizziness, gut cramping, etc. is extraordinarily challenging.
Warmer temperatures and weather changes in the spring may prompt temperature regulation difficulties for people with Mito. Often parents of children with mitochondrial disorders and adults living with the disease may not recognize that the symptoms could be related to dysautonomia.
About the Speaker
David Holtzman, MD is a pediatric neurologist at Massachusetts General Hospital and Assistant Professor in Neurology at Harvard Medical School, and sits on the MitoAction Medical Advisory Committee. Dr. Holtzman will discuss the basics of dysautonomia and common symptoms for people affected by mitochondrial disease, as well as answer questions from the group.
Saad Dinno, RPh, a compounding pharmacist at Acton Pharmacy and Dr. Virginia Tawa, PharmD, discussed the ingredients which make up the mysterious “Mito Cocktail.”
Is Exercise a New Year’s Resolution for People Affected by Mitochondrial Diseases?
Learn about how you can most effectively incorporate exercise into your daily routine.
About the Speaker
Margaret Klehm is nurse practitioner in the metabolic clinic at Tufts New England Medical Center.
Mitoaction discussion dealing with holiday stress and the importance of watching fluid intake.
Medical Cannabis & Mito: Historical Perspectives, Mechanism of Action and Other Need to Knows
About the Speaker
Dr. Fran Kendall is one of the pioneers in the field and is a Harvard-trained board-certified Clinical Biochemical Geneticist who founded the very first clinical mitochondrial disease program in the United States. Over decades of a career specializing in Metabolic, Mitochondrial, and Inherited Disorders, she: founded one of the first commercial laboratories focused on rare metabolic and mitochondrial disorders; pioneered telemedicine and private practice in rare genetics by founding VMP Genetics which has branched into 3 divisions (Direct Patient Care, Education, Physician to Physician Support); was the head of genetics for a large hospital system; authored chapters on mitochondrial medicine for medical texts and numerous research articles; lectures at medical schools and nursing schools on these disorders; is a frequent guest speaker at medical conferences on mitochondrial disease and autism; often acts as an expert witness in Federal court cases; and has appeared on national news outlets to offer expert opinion.
She currently sees children and adult patients from around the world in either her VMP Genetics clinic offices in Atlanta, GA or by telemedicine.