Genetics: Recent Episodes
ReachMD
Guest: John F. Brandsema, MD
Between 60 and 70 percent of patients with Duchenne muscular dystrophy (DMD) also have a diagnosable neurobehavioral phenotype like autism, ADHD, and anxiety. Here to talk about these common neurobehavioral issues in patients with DMD and how we can manage them is Dr. John Brandsema, Neuromuscular Section Head at the Children’s Hospital of Philadelphia.
Guest: John F. Brandsema, MD
As patients with Duchenne muscular dystrophy (DMD) age, their treatment regimens, considerations, and goals change. That’s why Dr. John Brandsema is here to talk about how we can best treat and support patients with DMD throughout their entire care journey. Dr. Brandsema is the Neuromuscular Section Head at the Children’s Hospital of Philadelphia.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: John F. Brandsema, MD
The gene therapy delandistrogene moxeparvovec was recently approved for patients with Duchenne muscular dystrophy (DMD) who are at least 4 years old. This expanded approval is based on the efficacy and safety results from the EMBARK trial. Joining Dr. Charles Turck to break down those key findings and the implications of this advancement in DMD treatment is Dr. John Brandsema. Dr. Brandsema is the Neuromuscular Section Head at the Children’s Hospital of Philadelphia, where one of the clinical trials for this gene therapy took place.
Host: Jennifer Caudle, DO
Guest: Samuel R. Wilson, MD
Sickle cell disease is among the most common inherited conditions globally, affecting more than seven million individuals worldwide.1-3 Given its prevalence, it is important to understand all of the complexities surrounding this disease. Joining Dr. Jennifer Caudle to discuss the pathophysiology, clinical presentation, burden, and unmet needs of sickle cell disease is Dr. Samuel R. Wilson, Assistant Professor of Medicine in the Division of Hematology at the University of North Carolina School of Medicine.
References:
- Sedrak A, Kondamudi NP. Sickle cell disease. StatPearls Publishing; 2023. Updated August 12, 2023. Accessed April 16, 2024. https://www.ncbi.nlm.nih.gov/books/NBK482384/.
- Thomson AM, McHugh TA, Oron AP, et al. Global, regional, and national prevalence and mortality burden of sickle cell disease, 2000–2021: a systematic analysis from the Global Burden of Disease Study 2021. Lancet Haematol. 2023;10(8):e585-e599. doi:10.1016/S2352-3026(23)00118-7.
- CDC. Data & statistics on sickle cell disease. Centers for Disease Control and Prevention. Published May 2, 2022. Accessed April 16, 2024. https://www.cdc.gov/ncbddd/sicklecell/data.html/.
Agios Pharmaceuticals, Inc. © 2024
All right reserved.
SCD-US-0095 / June 2024
Host: Jody Takemoto, PhD
Guest: Bryson Katona, MD, PhD
At the 2024 Digestive Disease Week Annual Meeting, Dr. Bryson Katona presented a session, titled “High-Risk Colon Cancer: The ABCs of Genetic Testing.” And now, Dr. Katona is here with Dr. Jody Takemoto to share key insights from his session on genetic testing for patients with high-risk colon cancer. Dr. Katona is the Director of the Gastrointestinal Cancer Genetics Program and Risk Evaluation Program and the Lynch Syndrome Program at Penn Medicine
Host: Matt Birnholz, MD
Guest: Donald Kohn, MD
Third-generation lentiviral vectors were developed to improve upon safety measures and mitigate the risks of toxicity and replication that are typically associated with first- and second-generation therapies. These advancements may help enhance the functionality and utility of third-generation lentiviral vectors in various gene therapy applications. Learn more about the development, efficacy, and safety of third-generation lentiviral vectors with Dr. Matt Birnholz and Dr. Donald Kohn, Distinguished Professor at the University of California, Los Angeles.
This non-certified educational series is produced and controlled by ReachMD, and is intended for healthcare professionals only.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Henry Rosenberg, MD
Malignant hyperthermia is an inherited disorder primarily recognized by anesthesia professionals. And since this condition can have significant consequences on a patient’s health, including their likelihood of surviving surgery, it’s important to know how to diagnose and treat malignant hyperthermia emergencies in operating room settings. Join Dr. Charles Turck as he dives deeper into this topic with Dr. Henry Rosenberg, a member of the Board of Directors of the Malignant Hyperthermia Association of the United States.
Host: Michael A. Levine, MD, FAAP, MACE, FACP
Host: B. Michelle Schweiger, DO, MPH
Autosomal Dominant Hypocalcemia Type 1 (ADH1) is caused by gain-of-function variants of the CASR gene encoding the calcium-sensing receptor (CaSR), resulting in hypocalcemia, inappropriately low parathyroid hormone levels, and hypercalciuria. While this has been defined and reported upon, the role CaSR plays in maintaining calcium homeostasis and the potential role it might have in different patient types (from pediatric to adult population) is not well understood clinically. Furthermore, with newly published data imminent surrounding encaleret, providers must be knowledgeable about the implications associated with the new literature and the implications it has towards the practice of hypoparathyroidism.
Host: Michael A. Levine, MD, FAAP, MACE, FACP
Host: B. Michelle Schweiger, DO, MPH
Autosomal Dominant Hypocalcemia Type 1 (ADH1) is caused by gain-of-function variants of the CASR gene encoding the calcium-sensing receptor (CaSR), resulting in hypocalcemia, inappropriately low parathyroid hormone levels, and hypercalciuria. While this has been defined and reported upon, the role CaSR plays in maintaining calcium homeostasis and the potential role it might have in different patient types (from pediatric to adult population) is not well understood clinically. Furthermore, with newly published data imminent surrounding encaleret, providers must be knowledgeable about the implications associated with the new literature and the implications it has towards the practice of hypoparathyroidism.
Host: Michael A. Levine, MD, FAAP, MACE, FACP
Host: B. Michelle Schweiger, DO, MPH
Autosomal Dominant Hypocalcemia Type 1 (ADH1) is caused by gain-of-function variants of the CASR gene encoding the calcium-sensing receptor (CaSR), resulting in hypocalcemia, inappropriately low parathyroid hormone levels, and hypercalciuria. While this has been defined and reported upon, the role CaSR plays in maintaining calcium homeostasis and the potential role it might have in different patient types (from pediatric to adult population) is not well understood clinically. Furthermore, with newly published data imminent surrounding encaleret, providers must be knowledgeable about the implications associated with the new literature and the implications it has towards the practice of hypoparathyroidism.
Host: Michael A. Levine, MD, FAAP, MACE, FACP
Host: B. Michelle Schweiger, DO, MPH
Autosomal Dominant Hypocalcemia Type 1 (ADH1) is caused by gain-of-function variants of the CASR gene encoding the calcium-sensing receptor (CaSR), resulting in hypocalcemia, inappropriately low parathyroid hormone levels, and hypercalciuria. While this has been defined and reported upon, the role CaSR plays in maintaining calcium homeostasis and the potential role it might have in different patient types (from pediatric to adult population) is not well understood clinically. Furthermore, with newly published data imminent surrounding encaleret, providers must be knowledgeable about the implications associated with the new literature and the implications it has towards the practice of hypoparathyroidism.
Host: Andrew Wilner, MD, FACP, FAAN
Guest: Marcus E. Peter, PhD
Death induced by survival gene elimination (DISE) is a cell death mechanism mediated by short RNAs. And according to a recent study, there may be a correlation between toxic DISE, DNA damage, and neuronal cell death in patients with Alzheimer’s disease. Learn more about the study’s findings and potential implications with Dr. Andrew Wilner and Dr. Marcus Peter, Professor of Medicine in the Division of Hematology and Oncology as well as a Professor of Biochemistry and Molecular Genetics at Northwestern University Feinberg School of Medicine in Chicago.
Host: John Buse, MD, PhD
Guest: Louis Philipson, MD, PhD
Over the last 15 years, the monogenic diabetes registry now has over 4,000 patients involved, and from that, the RADIANT study was started to identify new kinds of rare and atypical diabetes. So how can genetics testing and the RADIANT study provide atypical diabetes patients with better diagnoses and treatment? Learn more with Dr. John Buse and Dr. Louis Philipson, Professor in the Department of Medicine and Pediatrics at the University of Chicago.
Guest: Sergio Baranzini, PhD
A recent study was designed by the International Multiple Sclerosis Genetics Consortium with the goal in mind to find out whether the severity of multiple sclerosis (MS) could be influenced by genetics. Dive in with Dr. Sergio Baranzini, Distinguished Professor of Neurology at the University of California San Fransico and Co-Senior Author of the study.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Kamel Khalili, PhD
Scientists at Temple University’s Lewis Katz School of Medicine have identified a novel gene-editing strategy aimed at eliminating HIV-1 infection with no adverse effects on cell mortality. Find out how this recent discovery could get us one step closer to a cure for HIV with Dr. Charles Turck and Dr. Kamel Khalili, the Laura H. Carnell Professor in the Department of Neuroscience and Chair of the Department of Microbiology, Immunology & Inflammation.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Mark Pennesi, MD, PhD
Approximately 165,700 people in the United States are affected by inherited retinal diseases (IRDs) and treatment options for these conditions are limited. So what role does genetic testing play in the patient journey of people living with IRDs? Join Dr. Charles Turck as he dives into this topic with Dr. Mark Pennesi, Professor of Ophthalmology and an IRD specialist affiliated with the Casey Eye Institute at the Oregon Health and Science University School of Medicine.
©Janssen Pharmaceuticals, Inc. 2023 05/23 cp-367503v1
Host: Andrew Wilner, MD, FACP, FAAN
Guest: Nassim Rad, MD
Guest: Vanessa Battista, RN
Collaborative care plays an important role in treating patients is spinal muscular dystrophy (SMA). To learn more about this, Dr. Andrew N. Wilner is joined by Drs. Vanessa Battista and Nassim Rad to share their insights on team structures and collaborative care for SMA.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: John F. Brandsema, MD
Spinal muscular atrophy (SMA) is a rapidly progressive disease, but current treatment options might help us slow its progression. Dr. Charles Turck explores these treatment options with Dr. John Brandsema from the Perelman School of Medicine at the University of Pennsylvania.
Host: Frederic Rahbari-Oskoui, MD, MSc
This Expert Exchange webcast is designed to help improve clinicians’ ability to apply pharmacologic and non-pharmacologic strategies in the management of patients with ADPKD.
Host: Frederic Rahbari-Oskoui, MD, MSc
This Expert Exchange webcast is designed to help improve clinicians’ ability to apply pharmacologic and non-pharmacologic strategies in the management of patients with ADPKD.
Host: Jennifer Caudle, DO
Guest: William Lumry, MD
Hereditary angioedema (HAE) is a rare, genetic disease that can cause recurrent, unpredictable, and potentially life-threatening attacks of swelling in the body.1 These swelling attacks can be both painful and debilitating, which is why prevention is so important.1 So what are the treatment options available that can help prevent HAE attacks? Joining Dr. Jennifer Caudle to discuss the importance of long-term prevention for HAE and the role of the treatment option TAKHZYRO (lanadelumab-flyo) is Dr. William Lumry, Clinical Professor of Internal Medicine at the University of Texas Southwestern Medical School.
IndicationTAKHZYRO® is indicated for prophylaxis to prevent attacks of hereditary angioedema (HAE) in patients ≥12 years of age.
Important Safety InformationHypersensitivity reactions have been observed. In case of a severe hypersensitivity reaction, discontinue TAKHZYRO administration and institute appropriate treatment.
Adverse Reactions: The most commonly observed adverse reactions (≥10% and higher than placebo) associated with TAKHZYRO were injection site reactions consisting mainly of pain, erythema, and bruising at the injection site; upper respiratory infection; headache; rash; myalgia; dizziness; and diarrhea. Less common adverse reactions observed included elevated levels of transaminases; one patient discontinued the trial for elevated transaminases.
Use in Specific Populations: The safety and efficacy of TAKHZYRO in …
Guest: Dr. Timothy Craig
Hereditary angioedema (HAE) is a rare genetic disease that can cause recurrent, unpredictable, and potentially life-threatening attacks of swelling in the body.2 The unpredictability of these attacks is a significant burden on patients.3 Fortunately, preventive treatments like TAKHZYRO® (lanadelumab-flyo) can help reduce the frequency and severity of HAE attacks.1 Here to share key information and data on this treatment option is Dr. Timothy Craig, Professor of Pulmonary, Allergy, and Critical Care Medicine at Pennsylvania State University.
IndicationTAKHZYRO® (lanadelumab-flyo) is indicated for prophylaxis to prevent attacks of hereditary angioedema (HAE) in patients ≥12 years of age.
Important Safety InformationHypersensitivity reactions have been observed. In case of a severe hypersensitivity reaction, discontinue TAKHZYRO administration and institute appropriate treatment.
Adverse Reactions: The most commonly observed adverse reactions (≥10% and higher than placebo) associated with TAKHZYRO were injection site reactions consisting mainly of pain, erythema, and bruising at the injection site; upper respiratory infection; headache; rash; myalgia; dizziness; and diarrhea. Less common adverse reactions observed included elevated levels of transaminases; one patient discontinued the trial for elevated transaminases.
Use in Specific Populations: The safety and efficacy of TAKHZYRO in pediatric patients <12 years of age have not been established.
No data are …
Host: Mark A. Atkinson, PhD
Guest: Linda DiMeglio, MD, MPH
Autoantibody Screening to Identify Risk for Type 1 DiabetesT1D defines a continuum that begins during an asymptomatic prodrome before the disease manifests clinically. One of the challenges of T1D is identifying persons at high risk before the onset of clinical manifestations by screening for pancreatic b-cell autoantibodies. Interventions to delay or prevent the underlying autoantibody-mediated loss of pancreatic b cells are now available to delay or potentially prevent clinical the presentation of T1D as diabetic ketoacidosis and mitigate subsequent, longer-term complications.
Guest: John Anderson, MD
HAE is a rare, autosomal dominant genetic disease that can cause recurrent, unpredictable, and potentially life-threatening attacks of swelling in the body.1 There are approximately 6,000 patients living with HAE in the U.S. alone,2 and it’s not uncommon for patients to go undiagnosed for years after they start experiencing symptoms.1 Since early diagnosis is vital to creating a management plan that meets each patient’s individual needs,2 Dr. John Anderson is here to share key information on how we can better diagnose HAE in our patients.
References:
- Banerji A. Hereditary Angioedema: Classification, Pathogenesis, and Diagnosis. Allergy Asthma Proc. 2011;32:403–407.
- Busse PJ, Christiansen SC, Riedl MA, Banerji A, Bernstein JA, Castaldo AJ, Craig T, Davis-Lorton M, Frank MM, Li HH, Lumry WR, Zuraw BL. US HAEA Medical Advisory Board 2020 Guidelines for the Management of Hereditary Angioedema. J Allergy Clin Immunol Pract. 2021 Jan;9(1):132-150.
©2022 Takeda Pharmaceutical Company Limited. All rights reserved.
US-NON-7744v1.0 10/22
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Piotr Kowalski, PhD
mRNA technology may have a potential role in several areas of gene editing. But are there any barriers to its application in clinical practice? Dr. Piotr Kowalski from the University College Cork explores mRNA technology in gene editing.
Guest: Marc Riedl, MD, MS
Prior to 2008, there were limited approved treatment options for hereditary angioedema (HAE) available in the United States, but today, there are several medications approved by the U.S. Food and Drug Administration for preventing and treating HAE attacks.1 In light of the number of therapies that have been approved in recent years and continued clinical advancements in HAE research, what do we need to consider when discussing these treatment options with our patients? Here to share those key considerations and important information on the HAE treatment landscape is Dr. Marc Riedl.
References:
- Busse PJ, Christiansen SC, Riedl MA, Banerji A, Bernstein JA, Castaldo AJ, Craig T, Davis-Lorton M, Frank MM, Li HH, Lumry WR, Zuraw BL. US HAEA Medical Advisory Board 2020 Guidelines for the Management of Hereditary Angioedema. J Allergy Clin Immunol Pract. 2021 Jan;9(1):132-150.e3.
©2022 Takeda Pharmaceutical Company Limited. All rights reserved.
Guest: Marc Riedl, MD, MS
Prior to 2008, there were limited approved treatment options for hereditary angioedema (HAE) available in the United States, but today, there are several medications approved by the U.S. Food and Drug Administration for preventing and treating HAE attacks.1 In light of the number of therapies that have been approved in recent years and continued clinical advancements in HAE research, what do we need to consider when discussing these treatment options with our patients? Here to share those key considerations and important information on the HAE treatment landscape is Dr. Marc Riedl.
References:
- Busse PJ, Christiansen SC, Riedl MA, Banerji A, Bernstein JA, Castaldo AJ, Craig T, Davis-Lorton M, Frank MM, Li HH, Lumry WR, Zuraw BL. US HAEA Medical Advisory Board 2020 Guidelines for the Management of Hereditary Angioedema. J Allergy Clin Immunol Pract. 2021 Jan;9(1):132-150.e3.
©2022 Takeda Pharmaceutical Company Limited. All rights reserved.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Musaddiq Khan
Clinical data continues to emerge on mRNA therapeutics and their applications. What do we need to know about this data, and are there any barriers to the broader application of these therapeutics? Dr. Charles Turck is joined by Musaddiq Khan, the Vice President of Therapeutic Area Solutions in the Customer Value Team at Medable, to dive into clinical trials for mRNA therapeutics.
Host: Jennifer Caudle, DO
Guest: Francesca Taraballi, PhD
Guest: John J. Russell, MD
As mRNA therapeutics continue to emerge, what do our patients know about them? Joining Dr. Jennifer Caudle to explore knowledge gaps and discuss tactics to educate patients are Drs. John Russell and Francesca Taraballi.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Ahmed Zayed Obeidat, MD, PhD
Multiple sclerosis (MS) is a disabling disease that has challenged clinicians for decades. But developments in our understanding of the Epstein-Barr virus and emerging mRNA therapeutics may help us determine the root cause of MS—and develop a preventative treatment for it.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: John P. Cooke, MD, PhD
What do we need to know about the potential utility of mRNA therapeutics in regenerative medicine? Joining Dr. Charles Turck to discuss mRNA medicine’s potential impact on tissue engineering and targeted tissue restoration is Dr. John Cooke, Medical Director of the RNA Therapeutics Program in the Houston Methodist DeBakey Heart and Vascular Center.
Guest: Ahmed Zayed Obeidat, MD, PhD
The developments of mRNA therapeutics may change the way we treat neurodegenerative diseases. Here to provide insight on the role of these therapeutics and share what’s on the horizon is Dr. Ahmed Obeidat, Assistant Professor in the Department of Neurology at the Medical College of Wisconsin.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Laila Woc-Colburn, MD, DTM&H, FACP, FIDSA
Guest: John P. Cooke, MD, PhD
The COVID-19 pandemic has led to patient disparities that have impacted the development and delivery of mRNA medicine. What do we need to know about these obstacles, and how can we overcome them? Dr. Charles Turck is joined by Drs. John P. Cooke and Laila Woc-Colburn to explore barriers to access.
Guest: John P. Cooke, MD, PhD
What are some of the biggest challenges in regenerative medicine, and can mRNA therapeutics help us combat them? Dr. John Cooke from the Houston Methodist DeBakey Heart and Vascular Center explores these obstacles and shares how we can overcome them with potential mRNA therapeutics.
Guest: Jianxun Song, PhD
Several mRNA therapeutics are in development for cancer immunotherapy. What do we need to know about them? Dr. Jianxun (Jim) Song explores mRNA technology’s impact on antigen-specific T cells and immuno-oncology.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Piotr Kowalski, PhD
As myths and misconceptions continue to arise regarding mRNA technology, what can we do to address them? Joining Dr. Charles Turck to explore some of these misconceptions is Dr. Piotr Kowalski from the University of College Cork in Ireland.
Guest: John P. Cooke, MD, PhD
Message RNA (mRNA) is a copy of a gene within DNA. And based on how mRNA functions in the body, how can we leverage it to help protect us against infectious disease? Explore this and more with Dr. John P. Cooke, Director of the Center for Cardiovascular Regeneration and Medical Director of the RNA Therapeutics Program in the Houston Methodist DeBakey Heart and Vascular Center.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Nick Kusnezov, MD
Can you balance locum tenens with a full-time career? To answer that question, Dr. Charles Turck is joined by board-certified orthopedic surgeon, Dr. Nicholas Kusnezov, to walk us through his journey from joining the military to locum tenens.
Host: Jennifer Caudle, DO
Guest: Roni Devlin, MD
As rates of burnout continue to rise in the healthcare community, how can help our female physicians combat it? Dr. Jennifer Caudle joins Infectious Disease Specialist, Dr. Roni Devlin, to discuss how we can prevent burnout for female physicians.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Trevor Cabrera, MD
What’s it like becoming a locum tenens physician right out of residency? Dr. Charles Turck joins Dr. Trevor Cabrera, a Board-Certified pediatrician who trained in Houston, Texas, to share his firsthand experience and offer advice for residents.
Host: Paul P. Doghramji, MD, FAAFP
Guest: Samantha Conroy, MD
Locum tenens can improve quality of care around the globe—especially in remote and underserved communities. To share how, Dr. Paul Doghramji joins Dr. Samantha Conroy, a family practice obstetrician to share her experiences working as a locum tenens obstetrician in underserved communities.
Host: Jennifer Caudle, DO
Guest: Maurice G. Sholas, MD, PhD
After years of serving the New Orleans community, one physician decided to pursue locum tenens work. Dr. Jennifer Caudle joins Dr. Maurice Sholas, a pediatric physical rehabilitation physician, to share his experiences with locum tenens and in New Orleans.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Trevor Cabrera, MD
What’s it like becoming a locum tenens physician right out of residency? Dr. Charles Turck joins Dr. Trevor Cabrera, a Board-Certified pediatrician who trained in Houston, Texas, to share his firsthand experience and offer advice for residents.
Host: Michael Greenberg, MD
Guest: Brook Brouha, MD, PhD
How might genomics help us provide better care for our patients? Joining Dr. Michael Greenberg to share how he’s utilizing genomics in practice is Dr. Brook Brouha, a dermatologist and dermatopathologist at West Dermatology in San Diego, California.
Host: Matthew Sorrentino, MD
Guest: Javed Butler, MD, MBA, MPH
In a groundbreaking procedure, a 57-year-old man with life-threatening heart disease received a heart from a genetically altered pig. Surgeons at the University of Maryland Medical Center performed the 8-hour operation, making it the first successful transplant of a pig's heart into a human being. And while much is still uncertain, what could this achievement mean for the future of organ transplantation? That’s what ReachMD hosts Dr. Matthew Sorrentino and Dr. Javed Butler explore together.
Please note: Since the date of publication, David Bennet, the patient who received a heart transplant from a pig, died at the age of 57 at the University of Maryland Medical Center on March 8, 2022.
Host: John J. Russell, MD
Guest: Joseph E. Bavaria, MD
Featuring a wide range of disciplines and a new approach to comprehensive care, what do we need to know about the Aorta Center at Penn Medicine? Dr. John Russell is joined by Dr. Joseph E. Bavaria to dive into this aortic program and discuss a new approach to comprehensive care.
Host: Jacob Sands, MD
Guest: Kathleen Fenn, MD
Guest: Oudai Hassan, MD
How do the 2018 ASCO/CAP guidelines redefine our approach to caring for patients with HER2-mutated breast cancer? Find out as Dr. Jacob Sands speaks with Dr. Kathleen Fenn and Dr. Oudai Hassan about HER2 scoring criteria and how the data drives collaborative care between the medical oncology and pathology teams.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Kathryn Gallagher, MS, RN, BSN
Guest: Kate Newcomb-DeSanto, MSN, RN, MSW
What does Penn Medicine’s newly-opened patient room facility have to offer? Dr. Charles Turck is joined by Penn Medicine Clinical Advisors Kathy Gallagher and Kate Newcomb-DeSanto to discuss the new pavilion and how it's revolutionizing patient care.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Steven W. Pipe, MD
Guest: Giancarlo Castaman, MD
As we continue to explore the role gene therapy may play in treating patients with hemophilia, what do we need to consider? Joining Dr. Charles Turck to share key lessons learned from implementing gene therapy in the clinical trial setting are Drs. Steven Pipe and Giancarlo Castaman.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Sandy Marks
Guest: Kim Horvath, JD
Guest: Kyle Thomson, JD
With telehealth services expanding during the COVID-19 pandemic, has our access to them changed? To better understand this, Dr. Charles Turck meets with Sandy Marks, Kim Horvath, and Kyle Thomson from the AMA to explore what’s been done to provide Medicare coverage during a public health emergency and what’s on the horizon for telehealth access.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Emily Carroll, JD, MSW
The No Surprises Act aims to protect consumers from surprise medical bills. But how exactly does it go about doing that, and what’s the current status of its implementation? Joining Dr. Charles Turck to share progress and challenges associated with the No Surprises Act is Ms. Emily Carroll, a senior legislative attorney for the American Medical Association's Advocacy Resource Center.
Host: Jennifer Caudle, DO
Guest: Sarah Ali, MD
From working in a big city to taking on an assignment in a small mountain village, Dr. Sarah Ali from the Ventura County Medical Center joins Dr. Jennifer Caudle to talk about her adventures abroad with locum tenens and share key lessons she learned along the way.
Host: Hector O. Chapa, MD, FACOG
Guest: Sandra Misale, MD
Did you know that HER2 mutations can be found in about 4 percent of patients with non-small cell lung cancer (NSCLC)? Although it’s not a very common genetic event, it’s still important to know how these mutations drive disease progression and how you can treat these NSCLC patients. That’s why Dr. Sandra Misale joins Dr. Hector Chapa to explore the clinical features and characteristics of HER2 mutations along with the available therapeutic options.
Guest: Howard (Jack) West, M.D.
For patients with advanced non-small cell lung cancer, broad molecular testing can be both a solution and a challenge. Here to share key challenges for next-generation sequencing is Dr. Jack West, Associate Clinical Professor at the City of Hope Comprehensive Cancer Center in California.
Host: Paul P. Doghramji, MD, FAAFP
Guest: Mojgan Saber, MD
Can Locum Tenens be an option for healthcare professionals just completing their residency? Dr. Paul Doghramji is joined by Dr. Mojgan Saber to share her own experience as well as tips and tricks for residents looking at Locum Tenens right after residency.
Host: Charles P. Vega, MD
Guest: Candice Taylor Lucas, MD, MPH, FAAP
What is cultural humility, and how can it be incorporated into clinical practice? How does your patient's culture impact their health behaviors, and why does your culture matter?
Listen in as two leading experts navigate concerns surrounding cultural humility and emphasize the importance of empathy, awareness, and advocacy. Discover ways to integrate small but important changes into your clinical practice to help bridge communication gaps and enable your patients to thrive.
Host: Charles P. Vega, MD
Guest: Robert O. Roswell, MD, FACC, FACP
Diversifying our physician workforce so that it is more racially, ethnically, and geographically balanced can ultimately have a positive impact on community health. Join us as two experts discuss how pipeline programs reaching children as early as elementary school can help ensure workplace diversity. Also find out how clinicians can be advocates for their patients by helping to disentangle them from structural inequities and working towards policy changes. There’s a lot than can be done to provide more balanced care, but we need to look beyond simple fixes to the root causes of the issues. So find your bandwidth – that’s what you can do today – and discover why it’s so important to move upstream to solve the problems manifesting downstream.
Host: Charles P. Vega, MD
Guest: Lionel Phillips, MBA
Learn why diversity in clinical trials is so important to community health. Two experts discuss the key role that trusted messengers play in enrollment, why it is critical to break the cycle of medical mistrust, and the downstream effect of a lack of diversity in clinical trials.
Host: Charles P. Vega, MD
Guest: Sateria Venable
Regional healthcare disparities are biases that are based on where people live. Are your patients’ treatment options being impacted and limited by their geographical location? Join us as our two experts discuss how to support broader policy issues and highlight the importance of diagnostic algorithms that have been developed with diverse input. These steps may be of value in your clinical practice to ensure all patients have equal access to care regardless of their epidemiologic, socioeconomic, or insurance circumstances.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Joseph William Ray, MD
Fabry disease is a progressive, genetic disorder that can cause multisystemic damage and reduce life expectancy when left undiagnosed and unmanaged, making the timely and appropriate management of Fabry disease essential. Recent clinical outcome data and real-world evidence led to the approval of Fabrazyme, a treatment option for Fabry disease. Joining Dr. Charles Turck to share that data is Dr. Joseph William Ray, an Associate Professor of Pediatrics and Director of Medical Genetics at the University of Texas Medical Branch.
For more information, please visit www.fabrazyme.com/hcp.
MAT-US-2107750-v1.0-08/2021
Guest: Susan Butler-Wu, PhD, D(ABMM), SM(ASCP)
Dr. Susan Butler-Wu, Associate Professor of Clinical Pathology and Director of Medical Microbiology at LAC+USC Medical Center, investigates the differences—and highlights the benefits—of PCR versus antigen testing for COVID-19.
Host: Hector O. Chapa, MD, FACOG
Guest: Julio M. Jimenez
While many practicing physicians are aware of Mendelian genetics, epigenetics is a much more complicated field of study. What can this field of genetics tell us about chronic health conditions? Dr. Hector Chapa joins Dr. Julio Jimenez, a licensed chiropractic doctor, to discuss the importance of understanding epigenetics.
Guest: Michael R. Shafique, MD
Once we identify RET fusion abnormalities in patients with non-small cell lung cancer, what targeted therapies are available to us? Tune in to hear Dr. Michael Shafique, Assistant Professor of Thoracic Oncology at the Moffitt Cancer Center, share a brief overview of targeted therapies for patients with RET-rearranged non-small cell lung cancer.
Guest: Michael R. Shafique, MD
Here to give us a look at the unique genetic characteristics and prognostic implications for male and female patients with non-small cell lung cancer who harbor the RET fusion gene is Dr. Michael Shafique, Assistant Professor of Thoracic Oncology at the Moffitt Cancer Center in Tampa, Florida.
Host: Michael Greenberg, MD
Guest: Peter B. Crino, MD, PhD
How does tuberous sclerosis impact patients? Dr. Michael Greenberg joins Dr. Peter Crino, the chair of the Department of Neurology at the University of Maryland School of Medicine, to discuss tuberous sclerosis complex, or TSC.
Guest: D. Ross Camidge, MD, PhD
What are some of the clinical considerations for RET-rearranged non-small cell lung cancer? Dr. Ross Camidge, Director of the Thoracic Oncology Clinical and Clinical Research Programs at the University of Colorado, briefly discusses the guidelines and benefits of therapy recommended for non-small cell lung cancer by the National Comprehensive Cancer Network.
Host: Hector O. Chapa, MD, FACOG
Guest: Cameron Ayala
Hundreds of millions of people worldwide suffer from lymphedema and lymphatic diseases. Joining us to provide a personal perspective on this condition is Cameron Ayala, a former reality TV persona, compression specialist, and lymphedema patient who will be sharing his experience with Dr. Hector Chapa.
Host: Jacob Sands, MD
Guest: Pasi Antero Jänne, MD, PhD
Once we’ve confirmed a patient has EGFR-mutated lung cancer, how can we treat them? Joining Dr. Jacob Sands to discuss the current and future treatments for this mutation is Dr. Pasi Janne, a translational thoracic medical oncologist at the Dana-Farber Cancer Institute.
Host: John E. Anderson, MD
Guest: Matthias Hebrok, PhD
Emerging research may offer clinicians an alternative approach to treating type 1 diabetes. Dr. John Anderson meets with Dr. Matthias Hebrok, a professor in diabetes research and director of the Diabetes Center at the University of California, San Francisco, to discuss his groundbreaking research on insulin-producing stem cells.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Drew Weissman, MD, PhD
Dr. Drew Weissman, Professor of Medicine at Penn Medicine joins Dr. Turck to discuss his new COVID-19 vaccine technology and how RNA and mRNA are being used to provoke an immune response in order to combat the COVID-19 pandemic.
Host: Matthew J. Sorrentino, MD, FACC, FASH
Guest: Anita J. Moon-, MD, FAAP, FACC
Guest: Laxmi Ghimire, MD, FAAP
Dr. Matthew Sorrentino sits down with Dr. Anita Moon-Grady, a pediatric cardiologist at UCSFD, and Dr. Laxmi Ghimire, a pediatric specialist at Lake Region General Hospital to discuss the results from their recent study published in the American Journal of Cardiology, focusing on the prevalence of congenital heart disease in conjoined twins and higher-order multiple births.
Host: Ivy Ka Man Law, PhD
A Specific Mutation in Muc2 Determines Early Dysbiosis in Colitis-Prone Winnie Mice
Marina Liso, Stefania De Santis, Giulio Verna, Manuela Dicarlo, Maria Calasso, Angelo Santino, Isabella Gigante, Rajaraman Eri, Sathuwarman Raveenthiraraj, Anastasia Sobolewski, Valeria Palmitessa, Antonio Lippolis, Mauro Mastronardi, Raffaele Armentano, Grazia Serino, Maria De Angelis, Marcello Chieppa
Background: Inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), is a multifactorial disorder characterized by chronic inflammation and altered gut barrier function. Dysbiosis, a condition defined by dysregulation of the gut microbiome, has been reported in patients with IBD and in experimental models of colitis. Although several factors have been implicated in directly affecting gut microbial composition, the genetic determinants impacting intestinal dysbiosis in IBD remain relatively unknown.
Methods: We compared the microbiome of normal, uninflamed wild-type (WT) mice with that of a murine model of UC (ie, Winnie strain). Winnie mice …
Host: Jennifer Caudle, DO
Guest: Anjali Owens, MD
Without any targeted therapies available for inherited cardiomyopathy, how can we treat our patients coping with its debilitating symptoms? Here to share her diagnostic and management strategies along with key data from a recent study is Dr. Anjali Owens, Medical Director at the Center for Inherited Heart Disease at Penn Medicine.
Host: Paul Doghramji, MD
Guest: Jonathan Stokes
The World Health Organization recently listed antibiotic resistance as one of the biggest threats to global health, causing researchers to search for potential antibiotic candidates to combat this crisis. To find one such candidate, one research team turned to an unexpected source: artificial intelligence.
Here to walk us through the team’s approach and findings is Johnathon Stokes, the lead author of the study that identified a powerful new antibiotic compound.
Host: Paul Doghramji, MD
Guest: Maria Escolar, MD, MS
Adrenoleukodystrophy (ALD) is a rare genetic disorder that when left untreated, can have severe and even fatal consequences. Here to review the available treatment options for these patients is Dr. Maria Escolar, the Director of the Program for the Study of Neurodevelopment in Rare Disorders and a Professor of Pediatrics at the University of Pittsburgh School of Medicine.
Host: Linda Bernstein, Pharm.D.
There are currently four gene therapy products approved by the FDA, and with the FDA anticipating that there will be many more approvals in the future, how can they continue advancing the field of gene therapy all while ensuring that these innovative products meet their strict standards for safety and effectiveness? Pharmacist Dr. Linda Bernstein breaks down their six new guidance documents.
Host: Paul Doghramji, MD
Guest: Gregory S. Sawicki, MD, MPH
Even though there currently isn’t a cure for cystic fibrosis, there may finally be hope on the horizon for the more than 70,000 people around the world who are living with this debilitating disease. Joining Dr. Paul Dogramji to talk about the emerging treatment options for cystic fibrosis is Dr. Gregory Sawicki, Director at the Cystic Fibrosis Center and Assistant Professor of Pediatrics at Harvard Medical School.
Host: Mario R. Nacinovich, Jr., MSc
Guest: Paul Orchard, MD
Although it only affects about one in 18,000 people, the impacts of adrenoleukodystrophy cannot be underestimated. That’s why Dr. Paul Orchard joins Mario Nacinovich to talk about this rare—and fatal—genetic disease, why it’s often underdiagnosed and confused with other conditions, and how we can treat it once we’ve reached an accurate diagnosis.
Host: Jenn Simmons, MD
Guest: Susan Domchek, MD
Tune in as Dr. Jen Simmons is joined by Dr. Susan Domcheck, who debunks the common misconception that men don’t have to worry about the BRCA mutation and dives into the explorations of the BFOR Study.
Host: Jenn Simmons, MD
Guest: Susan Domchek, MD
Anytime the topic of genetic testing comes up in the context of breast and ovarian cancers, one question that undoubtedly arises is: who exactly should be tested? That’s the FAQ Dr. Susan Domchek, Director of the McDonald Women’s Cancer Risk Evaluation Center at the Hospital of the University of Pennsylvania, answers.
Host: Jennifer Caudle, DO
Guest: Jean Bennett, MD, PhD
Guest: Albert Maguire, MD
Power couple Drs. Jean Bennett and Albert Maguire discuss how their new therapy for the RPE65 gene, which causes retinal blindness, was recently approved by the FDA to become the first gene therapy treatment for a genetic disease in the United States and the first worldwide treatment for inherited blindness. Not only do they delve into the mechanics of the corrected gene injection, but they also explain what this milestone means for patient eligibility and how their marriage has played a role in the success of their research partnership.
Dr. Jean Bennett is the F.M. Kirby Professor of Ophthalmology at the Perelman School of Medicine at the University of Pennsylvania, and Dr. Albert Maguire is a Professor of Ophthalmology at the Hospital of the University of Pennsylvania and Attending Physician in the Division of Pediatric Ophthalmology at Children’s Hospital of Philadelphia.
Host: Paul Rokuskie
Scientists have been doing research into many areas of autism spectrum disorder in the hopes of explaining the doubling of its prevalence rate over the past decade.
Both environmental risk factors and genetic components are areas of intense scrutiny for researchers seeking to understand the root causes of autism.
Host Paul Rokuskie talks with Craig Newschaffer, Professor, Associate Dean for Research, and Director of the A.J. Drexel Autism Institute, about the risk factors for autism spectrum disorder that scientists are working to better define.
Host: Shira Johnson, MD
Guest: Robert Vonderheide, MD
For years, the foundations of cancer treatment, surgery, chemotherapy, and radiation therapy were utilized with the objective of weakening cancer.
But over the past several years, immunotherapy – therapies that enlist and strengthen the power of a patient’s immune system to attack tumors - has emerged as a new tool for fighting cancer. In August 2017, one such treatment approach, called Chimeric Antigen Receptor or CAR T-cell Therapy, received FDA approval for the treatment of children and young adults with acute lymphoblastic leukemia (ALL). Additionally, research is continuing to look at CAR-T therapy’s effectiveness for treating solid tumors as well.
Host Dr. Shira Johnson sits down with Dr. Robert Vonderheide, Director of the Abramson Cancer Center of the University of Pennsylvania and the John H. Glick, MD, Abramson Cancer Center Director’s Professor, to talk about the potential of CAR-T therapy alongside other emerging immunotherapies in fighting cancer.
Host: David Weisman, MD
Guest: John Khoury, MD
For the first time, the FDA has approved a direct-to-consumer genetic test from 23andme that will inform patients if they are predisposed to diseases such as Parkinson’s, Alzheimer's, and Celiac Disease among others.
Proponents applaud this decision, saying this will allow for people to know their genetic health risks and be more proactive about their health. Others argue that this information doesn’t tell the whole story since predisposition doesn't reflect someone's ultimate risk or likelihood of developing a disease. What are the benefits and liabilities of consumers' access to genetic testing?
Host Dr. David Weisman, Director of Clinical Trials at Abington Neurological Associates, sits down with Dr. John Khoury, Associate Director at Abington Memorial Hospital Sleep Disorders Center, to debate the merits and pitfalls of direct-to-consumer genetic testing.
Host: Maurice Pickard, MD
Guest: Bonnie Rochman
With the ever-expanding array of prenatal and postnatal tests, from carrier screening to genome sequencing, parents’ access to this previously unknown information is altering perceptions of disability, redefining the question of what sort of life is worth living, and who draws the line. Is this technology a triumph of modern medicine or a Pandora’s box of possibilities?
Host Dr. Maurice Pickard chats with Bonnie Rochman, author of the book The Gene Machine: How Genetic Technologies are Changing the Way We Have Kids - and the Kids We Have, about the new frontier of gene technology and how it is transforming medicine, bioethics, health care, and the factors that shape a family.
Host: Brian P. McDonough, MD, FAAFP
Dr. Brian McDonough welcomes Lee Buckler, Director, Chief Executive Officer and President of RepliCel Life Sciences based in Vancouver, BC. Mr. Buckler and his colleagues are tackling a mix of medical and cosmetic issues that include hair regeneration, repair of painful and debilitating tendon injuries and rejuvenation of damaged skin.
Host: Shira Johnson, MD
Guest: Jean Bennett, MD, PhD
There are 39 million people worldwide who are in total blindness and another 246 million with very low vision. The most frequent forms of visual impairment are caused by problems that can be corrected. Dr. Shira Johnson welcomes Dr. Jean Bennett, Professor of Ophthalmology and Cell and Developmental Biology at the University of Pennsylvania and researcher at the Children’s Hospital of Philadelphia. Dr. Bennett discusses her innovative work and research in curing blindness through gene therapy.
Host: Alan S. Brown, MD, FACC, FAHA, FNLA
Live from the Clinical Lipid Update of the National Lipid Association in Amelia Island, FL, host Dr. Alan Brown welcomes Dr. Rhoda Cooper-DeHoff. Dr. Cooper-DeHoff is an Associate Professor in the Department of Pharmacotherapy and Translational Research and Division of Cardiovascular Medicine of the Colleges of Pharmacy and Medicine at the University of Florida. She is also Associate Director of the Center for Pharmacogenomics at this institution.
Dr. Cooper-DeHoff discusses the rise of pharmacometabolomics, genomic testing, and pharmacogenetic testing in lipidology, with particular emphasis on predictive mapping for statin responses.
Individual detection of 14 high risk human papilloma virus genotypes by the PapType test for the prediction of high grade cervical lesions. Cuzick J, Ho L, Terry G, Kleeman M, Giddings M, Austin J, Cadman L, Ashdown-Barr L, Costa MJ, Szarewski A. J Clin Virol. 2014 May;60(1):44-9. doi: 10.1016/j.jcv.2014.02.002. Epub 2014 Feb 14.
Abstract BACKGROUND:
HR HPV genotypes when assayed collectively, achieve high sensitivity but low specificity for the prediction of CIN2+. Knowledge of the specific genotypes in an infection may facilitate the use of HR HPV detection in routine clinical practice.
OBJECTIVES:
To compare the rate of HR HPV detection and the accuracy of CIN2+ prediction between PapType test (Genera Biosystems) and other commercially available HR HPV assays, and to examine the value of full HPV genotyping.
STUDY DESIGN:
PreservCyt samples from 1099 women referred for abnormal cervical cytology were used. CIN2+ was chosen as the primary end-point but CIN3+ was also evaluated. A hierarchy of HR HPV genotypes was created using PPV and this was used to create 3 groups of genotypes with potentially different …
Host: Matt Birnholz, MD
Guest: Ronald J. Wapner, MD
Innovations in medical genetics are changing the practice of obstetrics and gynecology. With advancing knowledge of underlying genetic predispositions, doctors can provide more precisioned care plans for patients in women's health centers.
Dr. Matt Birnholz talks with Dr. Ronald J Wapner, Professor of Obstetrics and Gynecology and Director of Reproductive Genetics at Columbia University, about how the ever-changing field of medical genetics is revolutionizing OB/GYN treatment options and patient care.
Host: Brian P. McDonough, MD, FAAFP
Dr. Brian McDonough speaks with Dr. Philip E. Empey, PharmD, PhD, Assistant Professor of Pharmacy and Therapeutics at the University of Pittsburg School of Pharmacy. Their discussion centers on advancements in genetic testing to detect variances in response to anticoagulation therapies for patients undergoing vascular procedures such as stent placements.
Host: Matt Birnholz, MD
In the ongoing global campaign to prevent, treat, and cure HIV and AIDS, there have been countless therapeutic approaches targeting the HIV virus and everything it interacts with on the path to infection. But after decades of relentless infectivity claiming over 25 million lives, what if we could one day simply edit and delete the HIV virus right out of existence?
Joining Dr. Matt Birnholz to discuss a novel research effort to leverage gene editing technology in the fight against HIV is Dr. Kamel Khalili, Professor and Chair of the Department of Neuroscience, Director of the Center for Neuro-virology, and Director of the Comprehensive Neuro-AIDS Center at the Lewis Katz School of Medicine at Temple University.
[Read the Article]
Rates of genetic testing for BRCA1 and BRCA2 mutations have increased among younger women diagnosed with breast cancer, according to a new study. The study focused on nearly 900 women diagnosed with breast cancer at age 40 or younger. Researchers looked at rates of genetic testing, barriers to testing, and how the test results affected treatment decisions.
In 2006, the rates of BRCA testing were in the seventy percent range and by 2012 that proportion rose to ninety-five percent. While the majority of women reported being tested for BRCA 1 and 2, many were not, and a small minority reported that no one had discussed genetic risk or testing options. The study authors note that the overall goal of genetic testing is to help women make informed treatment decisions. Assessment of a young woman's genetic risk after a breast cancer diagnosis can affect treatment decisions and the results can also have health implications for her relatives.
[Watch more videos of The JAMA Report]
[Read the Article]
Autism Spectrum Disorder (ASD) represents a diverse group of neurodevelopmental conditions. If researchers can better understand the genetics of ASD, it may be possible to identify and diagnose at-risk children sooner. A new study looked at the results of two newer genetic testing technologies, chromosomal microarray and whole-exome sequencing, in children diagnosed with ASD.
Researchers from Newfoundland, Canada studied more than 250 children diagnosed with ASD. All participants underwent the chromosomal microarray analysis, however, only 95 randomly selected participants had whole-exome sequencing. Results found that sixteen percent of the children had an ASD related genetic finding on either microarray or whole-exome sequencing.
In addition to the new tests, researchers also closely examined the children for subtle physical differences and screened them for birth defects. Based on these exams, they were put into three groups of increasing physical severity: essential, equivocal, and complex. Researchers found that thirty-five percent of children in the complex group had a positive genetic test. In that group, the diagnosis of autism was more delayed than in the children of the other groups.
[Watch more videos of The JAMA Report]
JAMA Report videos provided pursuant to license. ©2015 American …
This week, Mark and Margaret speak with Dr. Eric Green, Director of the National Human Genome Research Institute at the National Institutes of Health, the world's largest organization dedicated solely to genomics research. Dr. Green was on the team that mapped the human genome and talks about new initiatives at NIH to create better platforms for storing and sharing big data in this new era of scientific research.
This week, Mark and Margaret speak with Dr Kenneth Brigham, cofounder and past director of the Emory/Georgia Tech Predictive Health Institute, on the future of predictive health. They discuss the use of genomics, biometrics, and nanotechnology to identify disease risks early in life and perhaps prevent the future onset of disease.
Host: Howard Levy, MD, PhD
Guest: Cynthia Casson Morton, PhD
After many years of collaborative research spanning the globe, the genetic mechanisms of uterine fibroid development have become well understood. What are the clinical ramifications of this knowledge, and how can genetic testing further guide treatment decisions? Speaking with Dr. Howard Levy on the genetics of uterine fibroids is Dr. Cynthia Morthon, Past President of the American Society of Human Genetics, and Professor of OB/GYN and Pathology at the Brigham and Women's Hospital and Harvard Medical School.
Host: Howard Levy, MD, PhD
Guest: David H. Ledbetter, PhD, FACMG
From the ASHG Meeting in San Diego, Dr. Howard Levy is joined by Dr. David Ledbetter, Executive Vice President and Chief Scientific Officer at Geisinger Health System. Dr. Ledbetter shares his career story as an internationally recognized researcher in the advancement of medical genomics, and the initiatives he is leading at Geisinger to bring genomic sequencing to primary care settings for improved risk assessments and better patient outcomes.
Host: Robert C Green, MD, MPH
Guest: Howard Levy, MD, PhD
Incorporating family histories and genetic health information into primary care has been a long term vision for many experts in the medical genetics field. When will this vision become a reality, and what will it take to enable widespread adoption of these tools in general practioners' offices nationwide? Host Dr. Robert Green welcomes Dr. Howard Levy, primary care physician, geneticist, and assistant professor of Medicine at the Johns Hopkins School of Medicine. Dr. Levy's research interests center on the integration of genetics into primary care, education of non-geneticist providers about genetics, and the natural history and management of Ehlers Danlos syndrome and related disorders of connective tissue.
Guest: Richard Gibbs, PhD
Host: Robert C Green, MD, MPH
When patients and clinicians alike consider genome sequencing, an attitude of "more is better" often predominates notions of what information to obtain. But new perspectives on the comparative value and contained costs of more refined exome sequencing have since emerged. Joining host Dr. Robert Green to discuss the benefits and drawbacks of respective clinical sequencing options is Dr. Richard Gibbs, Wofford Cain Chair and Professor of Molecular and Human Genetics, as well as Founder and Director of the Human Genome Sequencing Center at Baylor College of Medicine.
Host: Howard Levy, MD, PhD
Guest: Robert C Green, MD, MPH
Genomic Medicine is making a rapid entry into the healthcare landscape, but questions on the potential vs realized impacts toward clinical care outcomes persist. Which genomic information will be crucial to patient care? Addressing this and other questions with host Dr. Howard Levy is Dr. Robert Green, Director of the Genes-2-People (G2P) Research Program in Translational Genomics and Health Outcomes at Brigham and Women's Hospital and Harvard Medical School.
Guest: Wylie Burke, MD, PhD
Host: Howard Levy, MD, PhD
The advances of genetic and genomic medicine within clinical practice enable more precisioned, predictive care decisions. But with these new capabilities and access points to patient information come new ethical challenges. Understanding which information will be clinically valuable, how and where that information should be stored, who can access it and why are just starting points for ethical consideration. Joining Dr. Howard Levy to explore this important topic in greater depth is Dr. Wylie Burke, Professor of Bioethics and Humanities at the University of Washington. Dr. Burke is also Principal Investigator of the University of Washington Center for Genomics and Healthcare Equality, an NIH-funded Center of Excellence in Ethical, Legal, and Social Implications (ELSI) Research, and dual Principal Investigator of the Northwest-Alaska Pharmacogenomic Research Network. Her research addresses the social, ethical and policy implications of genetic information.
Guest: Joseph D. McInerney, MA, MS
Host: Howard Levy, MD, PhD
Dr. Howard Levy welcomes Joseph McInerney, Executive Vice President of the American Society of Human Genetics, to talk about collaborative efforts within the Society to help healthcare professionals integrate genetics into clinical care for their patients and promote medical education for the wider public.
This week, hosts Mark Masselli and Margaret Flinter speak with cardiologist, genomics and telemedicine expert Dr. Eric Topol, Director of the Scripps Translational Science Institute. They discuss his latest book, The Patient Will See You Now: The Future of Medicine Is In Your Hands, in which he predicts the "medicalization of the smart phone" is poised to truly democratize medicine by putting the power of diagnostics and monitoring in the patient's own hands.
Host: Brian P. McDonough, MD, FAAFP
DNA testing can bring with it a level of risk that may be surprising to some; testing can bring about unexpected findings - either ucovering latent medical diseases and disorders or uncovering surprising family findings. Guest Dr. Doug Moeller speaks with Dr. Brian McDonough to discuss how the medical community can help prepare individuals for some of these findings. Dr. Moeller is the Medical Director at McKesson Health Solutions and is an expert on clinical coding with a growing focus on advanced diagnostics and episode of care management.
Host: Matt Birnholz, MD
The Society for Maternal Fetal Medicine (SMFM) has long been dedicated to the optimization of pregnancy and perinatal outcomes; but according to Dr. Vincenzo Berghella, President of SMFM and Professor of OB/GYN at Thomas Jefferson University School of Medicine, this mission is continually challenged by ongoing issues such as maternal morbidity and mortality, preterm birth, lack of updated practice guidelines, and OB/GYN burnout. Dr. Berghella speaks with host Dr. Matt Birnholz about SMFM's response to these and other issues, and includes his recently published 6 keys to physician happiness on behalf of practicing OB/GYNs everywhere.
Host: Matt Birnholz, MD
"We are what our parents and grandparents ate, and how they lived," says Dr. Mark Hanson, Director of the Academic Unit of Human Development and Health at the University of Southhampton in the United Kingdom. This chilling but increasingly recognized prospect concerning intergenerational passsages of disease risk helped found the Developmental Origins of Health and Disease (DOHaD) study, a worldwide collaboration aimed at better understanding environmental to genetic determinants of health across multiple generations. In this discussion with host Dr. Matt Birnholz, Dr. Hanson highlights the science behind broadening our scope of individualized care to include both past and future generations of each patient.
Host: Lee Freedman, MD
The Philadelphia Chromosome provided the first evidence that genetic abnormalities were linked to cancer. This discovery at Penn Medicine more than 50 years ago ushered in the modern period of cytogenetics. Now, the Center for Personalized Diagnostics (CPD) builds on this legacy and is set to pave the way for a new era of genomic and therapeutic pathology. The Center is a joint initiative with the Abramson Cancer Center and integrates molecular genetics, pathology informatics and genomic pathology to empower physicians and patients to truly customize their treatment options accordingly. Host Dr. Lee Freedman welcomes Dr. David Roth, Chair of the Department of Pathology and Laboratory Medicine and Simon Flexner Professor of Pathology and Laboratory Medicine at Penn Medicine to discuss the unique Center and offerings for patients.
Host: Matt Birnholz, MD
This Presidential Plenary Scientific Session of the American College of Medical Genetics and Genomics (ACMG) is titled "The Coming Revolution in Medical Genetics: From Double Helix to Genomics and Back Again." Speaking is Dr. Wayne W. Grody, President of the ACMG and Professor in the Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine.
Guest: Jennifer Robinson, MD, MPH
Host: Alan S. Brown, MD, FACC, FAHA, FNLA
Who should be tested for genetically elevated cholesterol, or familial hypercholesterolemia? And how do we decide when and how to treat? Host Dr. Alan Brown talks with Dr. Jennifer G. Robinson, director of the Lipid Research Clinic and co-director of the Prevention Intervention Center at the University of Iowa. They discuss who is at risk in families, what age to start testing children, as well as treatment guidelines for children, adolescents, adult men, and women before and after childbearing age. For example, how do we treat children who test positive for familial hypercholesterolemia as young as two years of age?
Guest: Anne Goldberg, MD
Host: Alan S. Brown, MD, FACC, FAHA, FNLA
The National Lipid Association Foundation is emphasizing awareness of the most common inherited form of high cholesterol, familial hypercholesterolemia. Endocrinologist Dr. Anne Goldberg, talks with host Dr. Alan Brown about how to recognize and treat this hereditary cause of early onset atherosclerosis. Research has shown that statin treatment should begin when patients are very young. How early in life can we start screening and treating children, and are there differences to consider when treating young male versus female patients?
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Host: Janet Wright, MD
Guest: Dan Roden, MD
Long QT syndrome can be a silent threat. Although not all patients with congenital long QT syndrome develop symptoms, there is potential for dangerous arrhythmia that can cause sudden cardiac death. Can and should genetic testing guide clinicians in diagnosing and treating this condition? Dr. Dan Roden, professor of medicine and pharmacology and assistant vice-chancellor for personalized medicine at Vanderbilt University School of Medicine, says the concept of personalized medicine goes beyond genetics; it is also about meeting a patient's goals and individual needs. How can genetic testing help physicians decide which medical therapy might be most appropriate for each patient? Dr. Janet Wright hosts.
Host: Matt Birnholz, MD
For people who carry genetic predispositions toward Alzheimer's Disease, little is currently known about predicting the onset, course, and severity of disease at the individual level. However, because cogntitive degenerative diseases most often follow a gradual course of symptom progression later in life, medical professionals must be aware of the distinct, discoverable changes that occur at the "preclinical" stage, i.e prior to the symptomatic onset of memory loss.
In this session of Grand Rounds from the University of Arizona College of Medicine, participants learn about Alzheimer's Disease from an unique perspective of the preclinical stage. From classical signs on physicial exam to emerging biomolecular lab tests and novel imaging modalities, the pathophysiologic changes underlying Alzheimer's Disease are explored in depth.
Presenting this session of Grand Rounds is Dr. Richard Caselli, behavioral neurologist and professor of neurology at the Mayo Clnic in Scottsdale, Arizona.
This is Part 3 of a lecture in three parts.
Part 1 >>
Part 2 >>
To view the complete video recording of this and other Grand Rounds sessions from the University of Arizona College of Medicine, visit their website.
Host: Matt Birnholz, MD
For people who carry genetic predispositions toward Alzheimer's Disease, little is currently known about predicting the onset, course, and severity of disease at the individual level. However, because cogntitive degenerative diseases most often follow a gradual course of symptom progression later in life, medical professionals must be aware of the distinct, discoverable changes that occur at the "preclinical" stage, i.e prior to the symptomatic onset of memory loss.
In this session of Grand Rounds from the University of Arizona College of Medicine, participants learn about Alzheimer's Disease from an unique perspective of the preclinical stage. From classical signs on physicial exam to emerging biomolecular lab tests and novel imaging modalities, the pathophysiologic changes underlying Alzheimer's Disease are explored in depth.
Presenting this session of Grand Rounds is Dr. Richard Caselli, behavioral neurologist and professor of neurology at the Mayo Clnic in Scottsdale, Arizona.
This is Part 2 of a lecture in three parts.
Part 1 >>
Part 3 >>
To view the complete video recording of this and other Grand Rounds sessions from the University of Arizona College of Medicine, visit their website.
Host: Matt Birnholz, MD
For people who carry genetic predispositions toward Alzheimer's disease, little is currently known about predicting the onset, course, and severity of disease at the individual level. However, because cogntitive degenerative diseases most often follow a gradual course of symptom progression later in life, medical professionals must be aware of the distinct, discoverable changes that occur at the "preclinical" stage, i.e prior to the symptomatic onset of memory loss.
In this session of Grand Rounds from the University of Arizona College of Medicine, participants learn about Alzheimer's Disease from a unique perspective of the preclinical stage. From classical signs on physicial exam to emerging biomolecular lab tests and novel imaging modalities, the pathophysiologic changes underlying Alzheimer's disease are explored in depth.
Presenting this session of Grand Rounds is Dr. Richard Caselli, behavioral neurologist and professor of neurology at the Mayo Clnic in Scottsdale, Arizona.
This is Part 1 of a lecture in three parts.
Part 2 >>
Part 3 >>
To view the complete video recording of this and other Grand Rounds sessions from the University of Arizona College of Medicine, visit their website.
Host: Janet Wright, MD
Guest: Christopher O'Donnell, MD, MPH
We know that genes play a role in cardiovascular health, but new research has identified specific DNA regions that are associated with risk factors for coronary heart disease. It's estimated that 30-50% of cardiovascular health is influenced by family history or genetics, while the rest is influenced by other environmental factors, diet and exercise. How might these new genetic discoveries lead to new treatment options? Dr. Christopher O'Donnell, associate director and scientific director of the SHARe Project of the Framingham Heart Study at the National Heart, Lung and Blood Institute, and associate clinical professor of medicine at Harvard Medical School in Massachusetts, talks about his work genotyping the single-nucleotide polymorphisms of large cohort study participants. How are genome-wide association studies leading to discovery of new genes associated with various diseases, and will these findings move us into a new era of prevention and treatment of cardiovascular disease? Dr. Janet Wright hosts.
Guest: Constance Roche
Host: Mimi Secor, DNP, FNP-BC, FAANP
It's estimated that one in eight women will be diagnosed with breast cancer in their lifetime. 75% of women who are diagnosed have no known risk factors. But the incidence and mortality rate of breast cancer has declined over the last couple of decades. The government released controversial amendments to screening recommendations last year based on mortality outcomes from breast cancer. What are the implications for our patients, and what screening guidelines should advanced practice clinicians recommend to patients? Nurse practitioner Constance Roche, a clinical coordinator at the Avon Comprehensive Evaluation Center in Boston, Massachusetts, joins host Mimi Secor to discuss how to identify high risk patients, the best screening techniques and how primary care providers can find the best specialist for their patients.
Guest: Berish Rubin, PhD
Host: Bruce Bloom, DDS, JD
Only a few years ago familial dysautonomia (FD) was a fatal disease, but some "Rediscovery Research" from the FD lab at Fordham University in Bronx, New York, is turning this killer into a chronic manageable disease. What have we learned from familial dysautonomia research, and how might this help patients with other diseases? Joining host Dr. Bruce Bloom to provide an update on current FD research and treatment is Dr. Berish Rubin, professor in the department of biological sciences and head of the laboratory for familial dysautonomia research at Fordham University.
Guest: David Dosa, MD, MPH
Host: Eric Tangalos, MD
Long-term care facilities that include pets as residents are finding that fuzzy friends offer not only companionship to their human residents, but also comfort at the end of life. Dr. David Dosa, geriatrician and health services researcher at Brown University in Providence, Rhode Island, and author of Making Rounds with Oscar: The Extraordinary Gift of an Ordinary Cat, shares his stories about a nursing home cat named Oscar with an uncanny ability to sense when patients are nearing the end of life. What can Oscar teach us about compassionate palliative and hospice care? How prevalent are animal programs at long-term care facilities, and what other benefits do pets offer to residents? How do animal programs fit in with culture change in long-term care? Dr. Eric Tangalos hosts.
Host: Maureen Whelihan, MD
Guest: Michael Krychman, MD
When a woman is first diagnosed with breast cancer, a doctor's first concern is a treatment plan. But what happens after chemotherapy, radiation and surgery? Women must once again learn to reconnect with their bodies. Dr. Michael Krychman, executive director of the Southern California Center for Sexual Health and Survivorship Medicine, joins host Dr. Maureen Whelihan to discuss the treatment of low sexual desire in breast cancer survivors.
Host: Lee Freedman, MD
Guest: Anuja Dokras, MD, PhD
In what situations do couples consider preimplantation genetic diagnosis, or PGD, and should all of these couples undergo genetic counseling prior to PGD? What is the process for PGD? How accurate has PGD testing become, and what are its remaining limitations? How does preimplantation genetic screening differ from PGD? Host Dr. Lee Freedman addresses these questions and more with Dr. Anuja Dokras, medical director of the in vitro fertilization program at Penn Fertility Care and associate professor of obstetrics and gynecology at Penn Medicine.
Guest: James Watson
Guest: Joseph Kim, MD, MPH
Host: Matt Birnholz, MD
Host: Michael Greenberg, MD
Host Dr. Matt Birnholz talks with Dr. James Watson, winner of the 1962 Nobel Prize for the discovery of the structure of DNA. They discuss Dr. Watson's current and most pressing interest in cancer research, and its biochemical causes. Also, blogger and physician technologist Dr. Joseph Kim joins Drs Michael Greenberg and Matt Birnholz to talk about Apple's new iPad and its potential uses in healthcare. Dr. Kim is the author of several blogs, including Medicine and Technology. And in the Forum, Greenberg and Birnholz discuss the Lancet retraction of the MMR vaccine and autism link research.
Guest: Joseph Ma, PharmD
Host: Steven Edelman, MD
Pharmacogenomics is applied to select medications with the goal of optimizing drug therapy: maximizing efficacy, minimizing toxicity, and minimizing pharmacokinetic and pharmacodynamic variability. Join guest host, Dr. Candis Morello and Dr. Joseph Ma, assistant professor of clinical pharmacy at the University of San Diego Skaggs School of Pharmacy and Pharmaceutical Sciences, as they discuss the impact of pharmacogenomics in diabetes therapy.
Host: Janet Wright, MD
Guest: Geoffrey Ginsburg, MD, PhD
Patient-centered care is a hot topic in health care these days, though usually when we think of patient-centeredness, our thinking tilts toward aspects of policymaking or system delivery. Host Dr. Janet Wright takes a look at the science side of patient-centered care — the more precise tailoring of therapy known as personalized medicine — with Dr. Geoffrey Ginsburg, founding director of the Center for Genomic Medicine at the Duke Institute for Genome Sciences and Policy and professor of medicine and pathology at Duke University School of Medicine. Dr. Ginsburg also shares what he considers to be the top priorities of this field, forging a path from the research to clinical care. How might personalized medicine impact cardiovascular care in the years to come?
Guest: David Pearce, PhD
Host: Bruce Bloom, DDS, JD
Mucopolysaccharidosis I, or MPS I, often presents initially as a child's failure to thrive, and is a diagnosis with devastating effects. How is new research able to help children with this lysosomal storage disorder? Host Dr. Bruce Bloom talks with Dr. David A. Pearce, director of the Sanford Children's Health Research Center in Sioux Falls, South Dakota, about advances in research into treatment options, including enzyme replacement therapy, for MPS I.
Don't miss these other programs on MPS I, with host Dr. Bruce Bloom:
Musculoskeletal Aspects of MPS I: Diagnosis and Management Considerations
Immune System Irregularities in Lysosomal Storage Disorders
Long Term Efficacy and Safety of Laronidase for MPS I
Guest: David Pearce, PhD
Host: Bruce Bloom, DDS, JD
How is the immune system involved in lysosomal storage disorders, including juvenile Batten disease, Niemann-Pick type C disease and Krabbe disease? Host Dr. Bruce Bloom welcomes Dr. David A. Pearce, director of the Sanford Children's Health Research Center in Sioux Falls, South Dakota, to discuss research into the immune response in these patients.
Don't miss these other programs on MPS I, with host Dr. Bruce Bloom:
Challenges in Management of MPS I
Musculoskeletal Aspects of MPS I: Diagnosis and Management Considerations
Long Term Efficacy and Safety of Laronidase for MPS I
Guest: Gregory Pastores, MD
Host: Bruce Bloom, DDS, JD
What are the musculoskeletal signs and symptoms in children with MPS I? How can we test for MPS I? And how does the disease present in patients as they grow up? Dr. Gregory M. Pastores, associate professor of neurology and pediatrics at the New York University School of Medicine in New York, and director of the neurogenetics laboratory in the department of neurology at NYU, explores with host Dr. Bruce Bloom the diagnostic challenges and management considerations to be reviewed when treating MPS I patients.
Don't miss these other programs on MPS I, with host Dr. Bruce Bloom:
Challenges in Management of MPS I
Immune System Irregularities in Lysosomal Storage Disorders
Long Term Efficacy and Safety of Laronidase for MPS I
Guest: Emil Kakkis, MD, PhD
Host: Bruce Bloom, DDS, JD
Host Dr. Bruce Bloom welcomes Dr. Emil Kakkis, an advisor at BioMarin Pharmaceutical Inc. and author of numerous published articles on mucopolysaccharidosis I, or MPS I, to discuss current treatment options. They discuss the benefits and risks of enzyme replacement therapy with laronidase.
Don't miss these other programs on MPS I, with host Dr. Bruce Bloom:
Challenges in Management of MPS I
Immune System Irregularities in Lysosomal Storage Disorders
Musculoskeletal Aspects of MPS I: Diagnosis and Management Considerations
Guest: Alphonso Brown, MD, MS
Host: Mark DeLegge, MD
The causes of pancreatitis are often unknown, but we're learning that there are more potential causes than previously believed. Genetic causes are rare, but their detection has improved with new technology. What role might genetic testing play in correctly diagnosing and managing the condition? And what are the ramifications of genetic testing for the patient? Dr. Alphonso Brown, assistant professor of medicine at Harvard Medical School and co-director of the Pancreas Center at Beth Israel Deaconess Medical Center, joins host Dr. Mark DeLegge to discuss the application of genetics for patients with pancreatitis.
Guest: Ken Aldrich
Host: Bruce Japsen
Expanded guidelines for stem cell research have favored federal financing for embryonic stem cell development. But some researchers in the field are looking beyond embryonic stem cells. Ken Aldrich, chief executive officer and co-founder of International Stem Cell Corporation, tells host Bruce Japsen about pluripotent stem cell research, not yet eligible for federal funding.
Guest: Arthur Holden, MBA
Host: Bruce Japsen
Two years after it was formed, the International Serious Adverse Event Consortium, working with the U.S. Food and Drug Administration, is making progress understanding why certain people are predisposed to dangerous drug interactions. Arthur Holdren, founder of the consortium, tells host Bruce Japsen about the discovery of a genetic link between liver injury and some people who received a popular antibiotic.
Guest: Linda Powers, Ms.
Host: Bruce Japsen
President Obama expanded federal funding for certain embryonic stem cell research and many are excited about what it means to the entire field of discovery of new drugs and medical treatments. Linda Powers, of the Maryland Stem Cell Commission, tells host Bruce Japsen about the importance of Obama's move to, not only those interested in embryonic stem cells, but the entire field and drug discovery in general.
Host: Lee Freedman, MD
Guest: Michael Hildebrand, PhD
Researchers have discovered a CATSPER gene mutation that may lead to development of a male infertility treatment, as well as a male contraceptive. Are we really another step closer to developing a male contraceptive, and when might an oral contraceptive be available for men? Join host Dr. Lee Freedman as he talks with Dr. Michael Hildebrand, fellow in the department of otolaryngology at the Carver College of Medicine, University of Iowa, about this exciting new genetic discovery, and how it might lead to the development of a male contraceptive.
Guest: Andrew Faucett
Host: Lisa Dandrea Lenell, PA-C, MPAS, MBA
How does a PA handle a patient who comes in following genetic testing, and how do they counsel that patient on their results? PA educators are realizing this scenario is becoming commonplace. Since 2008, genetics is now a required course for all PA students. Andrew Faucett, an assistant professor in the department of human genetics at Emory University School of Medicine in Atlanta joins host Lisa D'Andrea Lenell to discuss the importance of genetic medicine in your daily practice.
Guest: Randy Blakely, PhD
Host: Vatsal Thakkar, MD
Dopamine is an important neurotransmitter in the cortex, essential to movement and activity control, as well as attention and executive function, tying this transporter to ADHD. How are scientists finding the genetic markers that may be transmitted to those with ADHD, and how does this help scientists understand more about the disorder? Dr. Randy Blakely, director of the Center for Molecular Neuroscience at the Silvio O. Conte Center for Neuroscience Research and the Alan D. Bass Professor of Pharmacology and Psychiatry at the Vanderbilt University School of Medicine, describes a genetic mutation that causes the dopamine transporter to run backwards, and how this discovery is helping scientists understand the mechanisms of ADHD. Dr. Vatsal Thakkar hosts.
Guest: F. Anthony Greco, MD
Host: Larry Kaskel, MD
Cancer is so often an agonizing diagnosis, one that can be that much more difficult for a patient to accept when the origin of the cancer cannot be traced. Novel genetic tests are just one of a few new options that may help us in situations where imaging, therapy, and other genetic markers have not been effective. Dr. F. Anthony Greco, director of the Sarah Cannon Cancer Center in Nashville, tells us that we appear to be making progress toward new ways to diagnose cancers of unknown primary origin. Dr. Larry Kaskel hosts.
Guest: Leif Ellisen, MD, PhD
Host: Lee Freedman, MD
A new program at Massachusetts General Hospital in Boston includes extracting the DNA from its cancer patients’ tumors to determine which abnormalities occur in the tumor cells, specific to the type of tumor. From these results, physicians hope to create better, targeted cancer therapies. Host Dr. Lee Freedman asks Dr. Leif Ellisen, associate professor of medicine at Harvard Medical School, about the details of this program. Will genetic tumor profiling be conducted at many more cancer centers in the near future?
Guest: Marc Hedrick, MD
Host: Bruce Japsen
Many view the promise of stem cells as something far off in the distance, but these regenerative cells are nearing commercialization in the area of cosmetic and plastic surgery, particularly for women who are in need of reconstructive breast surgery. Dr. Marc Hedrick, president of San Diego based Cytori Therapeutics, tells the Chicago Tribune's Bruce Japsen about a commercialized device in Europe that uses adult stem cells derived from fat as a way to reconstruct breasts following surgery. Clinical trials may begin in the US in the next year.
Guest: Robert Harman
Host: Bruce Japsen
Human stem cell treatments are only just emerging in clinical trials. but man's 'best friend' is already benefitting from pain relief and important treatments that are commercialized. And this work in dogs and cats could one day benefit human patients. Dr. Robert Harman, CEO and founder of Vet-Stem, tells the Chicago Tribune's Bruce Japsen about the latest efforts by a stem cell therapy developer to use fat cells for treatments, a therapy gaining momentum in pets and soon to be moving through clinical trials for humans.
Guest: Margaret Miller, MD
Host: Lisa Mazzullo, MD
Currently there are no tests available to confirm the diagnosis of preeclampsia in pregnant women. Preeclampsia affects two to 10 percent of pregnancies in the United States and it's the most common and potentially life threatening complication for a pregnant woman and her child. Dr. Margaret Miller, an assistant professor of medicine and obstetrics and gynecology at the Warren Alpert Medical School at Brown University in Providence, Rhode Island, discusses with host Dr. Lisa Mazzullo her research examining possible biomarkers to predict preeclampsia and its possible link to cardiovascular disease later in life.
Guest: Douglas Rex, MD
Host: Mark DeLegge, MD
Fecal immunochemical testing (or FIT testing) replaces the older stool guaiac test in the recent colorectal cancer screening guidelines. What's the advantage to FIT testing? Is there a place for fecal DNA testing in the realm of colorectal cancer screening methods right now, or does this procedure need further revision? Host Dr. Mark DeLegge discusses the newest developments in colorectal cancer screening technologies with Dr. Douglas Rex, distinguished professor of medicine at Indiana University School of Medicine. Is CT colonography also a viable screening option?
Guest: William Foulkes, MD, PhD
Host: Bruce Bloom, DDS, JD
The need to manage the health of patients with cancer, and at risk for developing cancer, has given rise to the field of cancer genomics. What is this field? What are the roles within the specialty? And how do they work with patients?Host Dr. Bruce Bloom talks with Dr. William Foulkes, director of the cancer genetics program at McGill University in Montreal, Canada.
Host: Bruce Bloom, DDS, JD
Guest: William Foulkes, MD, PhD
What has genetic research taught us about the inheritance of common cancers? And how can we use this knowledge to help patients? Dr. William Foulkes, director of the cancer genetics program at McGill University in Canada, talks with host Dr. Bruce Bloom about the questions raised and the answers revealed when we look at cancer risk from a genetic perspective.
Guest: Dan Roden, MD
Host: Bruce Bloom, DDS, JD
What are the tools that will finally make personalized medicine a reality? Dr. Dan Roden, the William Stokes Professor of Experimental Therapeutics, vice-chancellor for personalized medicine and the director of the John Oates Institute for Experimental Therapeutics at Vanderbilt University School of Medicine, joins host Dr. Bruce Bloom, DNA banks, electronic medical records and more.
Guest: Dan Roden, MD
Host: Bruce Bloom, DDS, JD
The greatest side effect of medications is that they often don't do what we expect them to do. Dr. Dan Roden, professor in the departments of medicine and pharmacology at Vanderbilt University School of Medicine, talks with Dr. Bruce Bloom about variability in response to drugs. Genetic components are just one of many reasons patients respond differently. Dr. Roden also discusses his specific work with customizing treatment for patients with arrhythmias based upon the disease mechanism.
Guest: Laurie Zoloth, PhD
Host: Maurice Pickard, MD
Dr. Laurie Zoloth, director of the Northwestern University Center for Bioethics, Science and Society, talks about ovarian cryopreservation, maturation of oocytes in vitro, and politicized laboratory breakthroughs that were intended to meet the needs of female cancer survivors. She argues that we need to be prepared to deal with patients who will use the tools offered by oncofertility to delay childbearing, and meet the need for tissue in stem cell research. Hosted by Dr. Maurice Pickard.
Guest: Laurie Zoloth, PhD
Host: Maurice Pickard, MD
The preservation of female cancer patients' fertility after treatment is a new area of concern for researchers, clinicians, and patients. Dr. Laurie Zoloth, professor of medical humanities, bioethics, Jewish studies and religion and also director of the Northwestern University Center for Bioethics, Science and Society, talks with host Dr. Maurice Pickard about broad issues of reproduction, as well as breakthroughs in the lab and how clinicians can handle treatment discussions when they're compounded by the topic of fertility.
Guest: Berish Rubin, PhD
Host: Bruce Bloom, DDS, JD
Host Dr. Bruce Bloom welcomes Dr. Berish Rubin, professor in the department of biological sciences and head of the Laboratory for Familial Dysautonomia research at Fordham University in Bronx, New York. A genetic condition, symptoms include inability to swallow, respiratory congestion, poor muscle tone, and delayed developmental milestones. Dr. Rubin reports on the latest research and how close we are to finding a cure.
Guest: Berish Rubin, PhD
Host: Bruce Bloom, DDS, JD
In only three months' time, researchers Dr. Berish Rubin and Dr. Sylvia Anderson and their team uncovered the genetic cause of familial dysautonomia (FD). Dr. Rubin, professor in the department of biological sciences at Fordham University, joins host Dr. Bruce Bloom to share his story and the research that led them to identify the gene mutation responsible for FD, a variation most often found in the Ashkenazi Jewish population. They also discuss symptoms a clinician can use to diagnose FD, common treatments and the future direction of FD research.
Guest: Artemis Simopoulos, MD
Host: Lee Freedman, MD
The field of genetics was developing so rapidly in 1975, that the National Academy of Sciences published a set of genetic screening guidelines. These guidelines are still considered classic over three decades after their publication. Do all of the recommendations remain true today? Host Dr. Lee Freedman outlines the guidelines with guest Dr. Artemis Simopoulos, founder and president of the non-profit Center for Genetics, Nutrition and Health. Which recommendations have been adhered to, and which ones need more attention?
Guest: Grace Kuo, PharmD, MPH
Host: Charles Turck, PharmD, BCPS, BCCCP
In the minds of healthcare professionals, pharmacogenomics often conjures images of cutting-edge medical technology, and even a sense that the word describes the future of medicine moreso than the present. Aside from vague notions, it’s not clear that most of us have a solid grasp of what contemporary pharmacogenomics entails. How might we bridge this gap in our knowledge? Dr. Grace Kuo, associate professor of clinical pharmacy and director of the Pharmacogenomics Education Program at the University of California, San Diego (UCSD) Skaggs School of Pharmacy and Pharmaceutical Sciences, explains the genesis and foremost goals of this program with host Dr. Charles Turck. How should we think about 21st-century pharmacogenomics, in terms of what it may hold for our patients and our practices?
Guest: Susan Love, MD
Host: Lauren Streicher, MD
Dr. Susan Love, medical director and founder of the Dr. Susan Love Research Foundation, joins host Dr. Lauren Streicher to talk about the Love/Avon Army of Women initiative, which seeks to recruit one million women of all ages and backgrounds to participate in breast cancer research. Dr. Love explains how doctors can apply to be involved in the research process and how your patients can become part of the army of women.
Host: Bruce Bloom, DDS, JD
Guest: Eamonn R. Maher, MD
Guest: John Solly, PhD
Skin lesions, pneumothorax and kidney tumors? Is it Birt-Hogg-Dubé Syndrome? Described in the late 1970s, Birt-Hogg-Dubé was very difficult to recognize until recent molecular genetic testing made the diagnosis of this orphan disease more accurate. What is this disease? What systems does it affect? How do we treat it and what is the hope for the future? Join host Dr. Bruce Bloom and his guests Dr. Eamonn Maher, professor of medical genetics and department head of medical and molecular genetics at the University of Birmingham in the UK, and John Solly, director of the Myrovlytis Trust, a UK charity dedicated to the promotion of research into rare genetic disorders.
Host: Bruce Bloom, DDS, JD
Guest: John Solly, PhD
The worldwide effort to find cures for rare disease is often the work of small organizations such as the the Myrovlytis Trust, a not-for-profit organization in Great Britain dedicated to finding treatments and cures for rare diseases. John Solly, charity manager for the Myrovlytis Trust, talks with host Dr. Bruce Bloom, the rationale for focusing large dollars on diseases affecting a small population and how the Trust is approaching the search for a cure to their first target disease, Birt-Hogg-Dubé Syndrome.
Host: Roy Levit, MD
Guest: Albert O. Edwards, MD, PhD
Geneticists think of age-related macular degeneration (AMD) as a complex trait in which multiple environmental and epidemiological risks combine to cause the disease. Dr. Albert O. Edwards is a consultant and an opthalmologist at the Mayo Clinic in Minnesota, discusses with host Dr. Levitt the genetic approach for identifying biological pathways involved in the disease, and explains how to interpret the genetic studies. Dr. Edwards also outlines the importance of lifestyle choices, such as exercise, low-fat diet and other heart-healthy behaviors, to reduce their risk of developing AMD regardless of one's knowledge of the genetic risk. Tune in to hear Dr. Edwards clarify the relationship between genetics and AMD.
Guest: Enrique Hernandez, MD
Host: Lisa Mazzullo, MD
Cervical cancer is the second leading cause of death in women around the world. Many of these deaths can be avoided if women with mild cervical dysplasia are treated early. In the last few years, doctors have clarified the cytology and pathology for women in order to treat the problem effectively, while not over-treating the issue. Dr. Enrique Hernandez, chairman of the department of obstetrics, gynecology and reproductive sciences at Temple University School of Medicine in Philadelphia, joins host Dr. Lisa Mazzullo to talk about the treatment plan for women with mild cervical dysplasia as well as recommendations for treating the disease in the future.
Guest: Marianne Legato, MD
Host: Lauren Streicher, MD
Women account for 85 percent of the people in the industrialized world who have reached 100 years of age. What accounts for the longer lifespan of women? Dr. Marianne Legato, founder of the Partnership for Gender-Specific Medicine at Columbia University College of Physicians and Surgeons, talks with host Dr. Lauren Streicher about the significance of gender on life span. They discuss the roles that biology, lifestyle, and social factors play in longevity, and probe whether social changes in the industrialized world may be closing the gap.
Host: Mark Nolan Hill, MD
Guest: Randi Hagerman, MD
Diagnosis of the genetic disorder Fragile X syndrome can be devastating for our young patients and their families, knowing that both the patient and their elders can be affected by this condition. Should we expand current screening measures for Fragile X? As clinicians, how do we guide patients and their families through this process of understanding their diagnosis? Dr. Randi Hagerman, professor and endowed chair of Fragile X research, and medical director of the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at the University of California, Davis School of Medicine, joins host Dr. Mark Nolan Hill to talk about the nuances of this genetic condition.
Host: Mark Nolan Hill, MD
Guest: Randi Hagerman, MD
We are rapidly learning more about the genetic disorder Fragile X syndrome, and a series of conditions related to Fragile X. We're also seeing great progress in promising therapies under investigation. How will these therapies, along with other treatment strategies, improve the lives of children and families affected by Fragile X and related conditions? Who should supervise care, and should treatment for children be coordinated with care of potentially affected relatives? Dr. Randi Hagerman, professor and endowed chair of Fragile X research, and medical director of the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at the University of California, Davis School of Medicine, shares her expansive expertise on Fragile X syndrome and associated conditions with host Dr. Mark Nolan Hill. If a child is diagnosed with Fragile X, is genetic screening inevitably warranted for parents and grandparents?
Host: Mark Nolan Hill, MD
Guest: Randi Hagerman, MD
It's responsible for more than five percent of all cases of autism, and it's the most common cause of inherited mental retardation. But are we as familiar as we need to be with Fragile X syndrome, and a series of genetic conditions related to Fragile X? Host Dr. Mark Nolan Hill welcomes Dr. Randi Hagerman, professor and endowed chair of Fragile X research, and medical director of the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at the University of California, Davis School of Medicine, for a stimulating conversation about our rapidly expanding knowledge of these genetic conditions. How do the signs and symptoms manifest in children, and how does Fragile X impact our elder generations?
Guest: Mark Hughes, MD, PhD
Host: Lisa Mazzullo, MD
In the context of preimplantation genetic diagnosis (PGD), the revolutionary prospects of the human genome are quite striking. Dr. Mark Hughes, professor of molecular medicine and genetics at Wayne State University School of Medicine, and director of the Genesis Genetics Institute in Detroit, joins host Dr. Lisa Mazzullo to address the inescapable ethical debate surrounding this technology. Further, are there any safety concerns tied to PGD?
Guest: Dale Sandler, PhD, MPH
Host: Lisa Mazzullo, MD
Rising rates of breast cancer are of concern to everyone in medicine. To what can we attribute this disturbing trend? For answers, host Dr. Lisa Mazzullo welcomes Dale Sandler, PhD, MPH, chief of epidemiology at the National Institute for Environmental Health Sciences (NIEHS), and principal investigator of the NIEHS Sister Study, a bold initiative to evaluate 50,000 sisters of women with breast cancer, measuring a confluence of environmental factors against their disease risk.
Guest: Robert Klitzman, MD
Host: Maurice Pickard, MD
Dr. Robert Klitzman, Associate Professor of Clinical Psychology at Columbia speaks about the need for more genetic counselors to help with families of Huntington's disease, breast cancer, alpha-1 antitrypsin deficiency and familial polyposis. People can order genetic testing and disease ancestry search directly on the internet. Many physicians have not been able to keep up with developments of the genome but will be asked to be knowledgeable about this exploding field. Dr. Maurie Pickard hosts.
Guest: Robert Klitzman, MD
Host: Maurice Pickard, MD
Dr. Robert Klitzman, associate professor of clinical psychology at Columbia University, discusses how to prepare patients and their families to deal with the complex issues that arise in families that have inherited Huntington's disease. Join host Dr. Maurice Pickard for this important discussion.
Guest: Masha Gessen
Host: Michael Greenberg, MD
Blood Matters: From Inherited Illness to Designer Babies is the work of Moscow-based author and journalist, Masha Gessen. Ms. Gessen discusses her book, based in part upon her experience as a carrier of the BRCA gene, with host Dr. Michael Greenberg.
Guest: Andrew Flood, PhD
Host: Gary Kohn, MD
The risk association between diabetes and colorectal cancer: what is the mechanism driving the correlation? What methods are used to study the relationship? Dr. Andrew Flood, assistant professor of epidemiology, University of Minnesota, and adjunct investigator at the National Cancer Institute, Division of Cancer Epidemiology and Genetics discusses the relationship and his research with host Dr. Gary Kohn.
Guest: Nehama Dresner, MD
Host: Lauren Streicher, MD
What is the psychological impact on patients faced with difficult obstretic and gynecology-related situations? Dr. Nehama Dresner, associate professor of clinical psychiatry, behavioral sciences, and obstetrics and gynecology at Northwestern University's Feinberg School of Medicine, addresses situational depression and anxiety plaguing these patients with host Dr. Lauren Streicher.
Host: Mark Nolan Hill, MD
Guest: Joseph Muenzer, MD
Previously, patients could only receive palliative care for symptoms associated with Hunter syndrome, a rare but serious genetic disorder that inhibits the body’s ability to break down specific complex carbohydrates. Now, a new enzyme therapy is making it possible to prevent Hunter syndrome manifestation, typically occurring as early as year two, which dramatically improves long-term quality of life. How quickly do patients show improvement with enzyme therapy? What are the most common side effects? Join host Dr. Mark Nolan Hill for an interesting conversation with Dr. Joseph Muenzer, professor of pediatrics and genetics at the University of North Carolina School of Medicine, and one of the world’s leading experts on Hunter syndrome.
Host: Mark Nolan Hill, MD
Guest: Joseph Muenzer, MD
Hunter syndrome is a rare but serious genetic disorder that inhibits the body’s ability to break down specific complex carbohydrates. Initial onset symptoms include inguinal hernias, recurrent otitis, and the common cold, frequently manifesting concurrently as part of a multi-system failure sometime after the first year of life. Because many of these symptoms are common in infants, physicians often do not suspect Hunter syndrome, yet treatment for the disease is much more effective when administered early in its progression. How can we minimize the delay typically associated with diagnosis of Hunter syndrome? Dr. Joseph Muenzer, professor of pediatrics and genetics at the University of North Carolina School of Medicine, and one of the world’s leading authorities in Hunter syndrome research, joins host Dr. Mark Nolan Hill to share his expertise.
Host: Mark Nolan Hill, MD
Guest: Joseph Muenzer, MD
Hunter syndrome is a rare but serious genetic disorder that inhibits the body’s ability to break down specific complex carbohydrates. What are the prinicipal symptoms that would lead a primary care physician to consider Hunter syndrome? Dr. Joseph Muenzer, professor of pediatrics and genetics at the University of North Carolina School of Medicine, and one of the world’s leading authorities in Hunter syndrome research, joins host Dr. Mark Nolan Hill to share his expertise.
Guest: Steven Stryker, MD
Host: Lauren Streicher, MD
There is a dramatically uneven distribution of risk among women for colorectal cancer, the second most common cancer in America. Low-risk women have only five percent lifetime odds of developing the disease, while moderate and high-risk subsets are much more vulnerable. What accounts for this risk? The evidence points to a series of genetic and environmental factors, along with other known syndromes. Dr. Steven Stryker, professor of clinical oncology at Northwestern University’s Feinberg School of Medicine, joins host Dr. Lauren Streicher to evaluate common predispositions to this devastating disease.
Guest: Goncalo Abecasis, PhD
Host: Paul Raeburn
Host Paul Raeburn interviews Goncalo Abecasis, PhD, associate professor of biostatistics at the University of Michigan School of Public Health, about the link between height and arthritis. What we can learn about the genetics of height from this connection?
Guest: Maria Couppis, PhD
Host: Paul Raeburn
Paul Raeburn interviews Dr. Maria Couppis about a new finding regarding how aggression is processed in the brain: as a reward, similar to sex and drugs. We look at the implications of this research.
Guest: Kristin Harper
Host: Paul Raeburn
The first recorded outbreak of syphilis occurred in Naples, Italy in 1495. Controversy has raged over the source of the pathogen, but a recent study suggests that when Columbus discovered the New World, he also discovered syphilis. The evidence comes from an updated treponemal family tree published in PLoS. How did investigators collar Columbus? And how good is their evidence?
Guest: Lee Philip Shulman, MD, FACOG, FACMG
Host: Lisa Mazzullo, MD
Few would quibble with the notion that every patient, irrespective of age, needs genetic screening. When it comes to prenatal testing, early answers are ideal for expectant mothers and their families. Dr. Lee Shulman, professor and chair of reproductive genetics at Northwestern University Feinberg School of Medicine, examines AFP-serum markers, triple and quad screens, and the increasing accuracy we’re now seeing among first trimester non-invasive testing.
Host: Lauren Streicher, MD
Guest: Marla Mendelson, MD
Marfan Syndrome, an inherited connective tissue disorder, affects 1 in 10,000 to 1 in 20,000 individuals. Women with Marfan Syndrome have a wide range of abnormalities involving the lungs, skin, ocular, musculoskeletal and cardiovascular systems. Today we are joined by Dr. Marla A. Mendelson, an assistant professor of Medicine at Northwestern University’s Feinberg School of Medicine, and director of the Women’s Cardiology program of the Bluhm Cardiovascular Institute of Northwestern Memorial Hospital which has just opened a clinic devoted to the management of women with Marfan syndrome.
Guest: Brian Kaplan, MD
Host: Lauren Streicher, MD
Prenatal diagnosis of genetic disorders has traditionally involved testing of an established pregnancy by utilizing chorionic villus sampling or amniocentesis. In the event that an abnormality is detected, pregnancy termination is then offered as an option. Pre-implantation Genetic Diagnosis (PGD) is an option that can be utilized during In Vitro Fertilization to avoid the transfer of abnormal embryos. PGD may have the additional value of improving pregnancy rates when undergoing assisted reproductive technologies. Dr. Kaplan discusses thestate of the art of PGD including current and future applications.
Guest: Brian Kaplan, MD
Host: Lauren Streicher, MD
While freezing embryos has long been an option, many single women who hope to have a future partner, are requesting oocyte preservation rather than utilizing donor sperm. Dr. Kaplan discusses new methods of cryopreservation , current clinical recommendations and outcomes.
Guest: Michael Petrascheck, PhD
Host: Paul Raeburn
Researchers who tested a staggering 88,000 chemical compounds in the laboratory are reporting that they’ve found a drug that extends longevity—and it’s an antidepressant. The idea that an antidepressant might increase longevity comes as a surprise. Antidepressants can be lifesaving drugs to people suffering from depression, but until now no one had thought to ask whether they might have other benefits. Reference: Nature, Nov. 22, 2007, p. 553.
Guest: John A. Kessler, MD
Host: Bruce Bloom, DDS, JD
John A. Kessler MD, Davee Professor of Stem Cell Biology, Chairman, Davee Department of Neurology, Northwestern University Medical School, is one of the world’s leaders in stem cell research to repair central and peripheral nerve damage. He joins us to talk about how growth factors promote neuronal and glial survival and phenotypic expression.
Guest: John A. Kessler, MD
Host: Bruce Bloom, DDS, JD
John A. Kessler MD, Davee Professor of Stem Cell Biology, Chairman, Davee Department of Neurology, Northwestern University Medical School in Chicago. Dr. Kessler is one of the world’s leaders in stem cell research to repair central and peripheral nerve damage. He joins us to talk about the biology of embryonic stem cells and neural stem cells, including defining the mechanisms regulating neuronal and glial differentiation of stem cells.
Host: Michael Greenberg, MD
Guest: Hugh Rienhoff, MD
Dr. Michael Greenberg speaks with Dr. Hugh Rienhoff about www.mydaughtersdna.org, a website he created to help children with rare or difficult-to-diagnose genetic diseases find proper diagnoses and help.
Guest: Thomas Goetz, MA, MPH
Host: Larry Kaskel, MD
One of the newest emerging healthcare ventures sells genome profiles. For $1000 and a saliva sample you can get a report describing your personal genome. In this segment host Larry Kaskel discusses with Thomas Goetz, deputy editor of Wired magazine, his recently published cover story on retail genomics.
Guest: Richard Moss, MD
Host: Bill Rutenberg, MD
Our guest Dr. Rick Moss discuses with host, Dr. Bill Rutenberg current modes of diagnosis, including the genetic basis of CF. This is followed by a discussion of current and future treatments for cystic fibrosis, including lung transplantation, stem cell and gene therapies.
Guest: Richard Moss, MD
Host: Bill Rutenberg, MD
No longer a disease of childhood, patients with cystic fibrosis are now living well into adult life. Dr. Moss discusses with host Dr. Bill Rutenberg about the current state of the art of treatment that has made long-term survival possible, new morbidities resulting from increased survival to financing health care for adults with cystic fibrosis and transitioning from pediatric to adult care.
Guest: Cathy Wicklund, MS
Host: Lisa Mazzullo, MD
The Genetic Counselor as an amazing tool in your medical armamentarium: As the genome becomes better understood new medical challenges will become evident. The tools to best educate ourselves and to assist our patients as they need to determine the w’s: when, who and why should someone undergo genetic testing. The what do I do after I know I have a genetic predisposition to a disease is an entire challenge on to itself that we must as health care providers help guide our patients . A team approach made up of genetic counselors, medical staff and possibly psychological staff will offer the most comprehensive care when genetic issues arise. Cathy Wicklund helps us understand the role of the genetic counselor and the ways they can help our patients with regards to genetic health testing.
Guest: Joanna Rudnick
Host: Lisa Mazzullo, MD
Guest: Julie Burger, JD
Genetic Discrimination- There should be a law against it, and we’re working on it; The Genetic Information Non Discrimination Act (GINA). What is the ethical and legal dilemma of BRCA 1 / 2 testing? 30,000 women have tested positive for brca1 or 2 but an estimated 250,000 women are suspected to be positive as well but are afraid to be tested due to possible genetic discrimination. The reality of health insurance, disability and employment discrimination due to genetic testing is daunting and is preventing women from taking action against the possible cancer diagnosis in their future. Julie Burger shares with us the legal dilemma and frustrations of genetic information discrimination. Additional References: Coalition For Genetic Fairness: www.geneticfairness.org Halsey Lea, d, et al Ethical Issues in Genetic Testing, J Midwifery Womens Health, 2005; 50 (3); 234-40. - Genomics and personalized Medicine act, 2006, Obama http://en.wikipedia.org/wiki/genetic_information_nondiscrimination_act - www.genome.gov/24519851- discusses the nuances of the gina act.
Guest: Joanna Rudnick
Host: Lisa Mazzullo, MD
From a medical, ethical and psychological perspective, Joanna Rudnick has faced heart-wrenching choices about childbearing, life-altering surgeries, preventive lifestyle changes, and much more. Young women like Ms. Rudnick, who possesses BRCA gene mutations, look to their healthcare providers for guidance through this harrowing journey. How can we help? She talks with host Dr. Lisa Mazzullo about the difficult decisions of genetic testing, and the challenges of treating for disease based on genetic projections.
Guest: Arthur Holden, MBA
Host: Bruce Japsen
A better understanding of why some people are predisposed to dangerous drug interactions and serious illness is the charge of the newly formed group, International Serious Adverse Event Consortium (SAE). The Chicago Tribune's Bruce Japsen interviews SAE chairman and chief executive officer, Arthur Holden about this important subject.
Guest: Bernhard Hering, MD
Host: Mark Nolan Hill, MD
Islet Cell Transplantation is a promising treatment for diabetics however, if approved there will likely be a shortage of islet cells. Dr. Bernhard Hering shares his research with host Dr. Mark Nolan Hill about the use of pig tissue for human islet transplant.
Guest: Bernhard Hering, MD
Host: Mark Nolan Hill, MD
In this segment, host Dr. Mark Nolan Hill speaks with Dr. Berhard Hering, international expert in islet cell transplants. Dr. Hering explains the promising new procedure offering diabetics the hope of being insulin free.
Guest: Garret FitzGerald, MD
Host: Lee Freedman, MD
Dr. FitzGerald outlines how the collaborative work of multiple disciplines is leading to a brave new world when it comes to the development of medications and how, in the near future, the concepts of drug efficacy and safety will be redefined.
Guest: Garret FitzGerald, MD
Host: Lee Freedman, MD
Dr. FitzGerald discusses how advances in molecular biology and our understanding of the human genome will lead to a paradigm shift in how we approach the development and prescibing of medications for our patients.
Guest: David Christiani, MD
Host: Paul Raeburn
The era of genomic medicine has barely begun, but visionaries are already looking past the genome to the proteome and the metabolome. Genes were only the beginning of a revolution in medicine. We talk to the chairman of a new National Academy of Sciences report spelling out the critical importance of the new science of toxicogenomics--in which the interactions between genes and the environment become central. Cigarette smoking is the classic example: 90 percent of smokers do NOT get lung cancer. It takes the combination of tobacco smoke and the right (or wrong) genes to cause the disease. How can practicing physicians equip themselves to practice genomic medicine? Join host Paul Raeburn to find out.
Guest: Richard Baer, MD
Host: Lauren Streicher, MD
Vast challenges present themselves in the diagnosis and treatment of multiple personality disorder. Dr. Richard Baer, the former president of the Illinois Psychiatric Society, discusses a particular case - involving one patient and her 17 different personalities - as the subject of his book, "Switching Time".
Guest: Diljeet Singh, MD
Host: Lisa Mazzullo, MD
Dr. Mazzullo and Dr. Singh discuss the genetic detection of ovarian cancer and the challenges it proposes.
Guest: Diljeet Singh, MD
Host: Lisa Mazzullo, MD
Ovarian Cancer affects 1 in 70 women over their lifetimes. It is the #2 most common gynecological malignancy, yet 95% of women experience symptoms in the months before they receive diagnosis. What can we do to increase early detection of Ovarian Cancer?
Guest: Clarisa Gracia, MD
Host: Lisa Mazzullo, MD
Dr. Gracia and Dr. Mazzullo discuss ovarian function and fertility before, during and after cancer treatments. The new ways in which we are beginning to perserve fertility provides hope for young cancer patients.
Guest: Clarisa Gracia, MD
Host: Lisa Mazzullo, MD
There are over 10 million new cancer diagnoses every year, and 5% occur in women of pre-pubescent and child-bearing ages. What impact does this have on their fertility, and what new measures are being taken before patients undergo treatment to protect the future of their fertility? Dr. Clarisa Gracia, assistant professor of obstetrics and gynecology at the University of Pennsylvania School of Medicine, joins host Dr. Lisa Mazzullo.
Guest: Susan McDaniel, PhD
Host: Leslie P. Lundt, MD
Patients who test positive for a genetic condition often feel like a ticking time bomb. How can we best help individuals facing a genetic risk? Dr. Susan McDaniel, co-editor of “Individuals, Families, and the New Era of Genetics“ joins Dr. Leslie Lundt to discuss psychosocial strategies.
Guest: Susan McDaniel, PhD
Host: Leslie P. Lundt, MD
The increasingly new science of genetic testing has potentially profound effects on not only the individual child, but the entire family system. Dr. Susan McDaniel joins Dr. Leslie Lundt to discuss the implications of such testing on the family.
Host: Bruce Bloom, DDS, JD
Guest: David Teachey, MD
Dr. David Teachey, a practicing pediatric hematologist-oncologist, a world class laboratory and clinical researcher and an Instructor in the Department of Pediatrics, Division of Oncology, at the Children’s Hospital of Philadelphia discusses his new research repurposing pharmaceutical and botanical medicines for diseases like Lupus and ALPS.
Host: Bruce Bloom, DDS, JD
Guest: David Teachey, MD
Dr. David Teachey, a practicing pediatric hematologist-oncologist, a world-class laboratory and clinical researcher and an Instructor in the Department of Pediatrics, Division of Oncology, at the Children’s Hospital of Philadelphia discusses his research breakthrough in treating Autoimmune Lymphoproliferative Syndrome.
Host: Bruce Bloom, DDS, JD
Guest: David Teachey, MD
Dr. David Teachey, a practicing pediatric hematologist-oncologist, laboratory and clinical researcher, and instructor in the department of pediatrics, division of oncology, at the Children’s Hospital of Philadelphia, explains to host Bruce Bloom his breakthrough research that may resolve symptoms for children saddled with the rare genetic disorder, Autoimmune Lymphoproliferative Syndrome.
Guest: Amy McGuire, PhD
Host: Paul Raeburn
If you are at increased risk of Alzheimer’s disease, would you want to know? What if you carry a gene that doesn’t affect you, but could affect your children? Would you want to know then? Within a few years, it will be possible to sequence your genome for about a thousand dollars. Patients will be walking into doctors' offices with printouts of their genomes, asking what it means. Will physicians have the answers? An ethicist at Baylor College of Medicine tells us what to expect. Hosted by Paul Raeburn.
Guest: Joanne Kurtzberg, MD
Host: Renee Matthews, MD
In this segment Dr. Joanne Kurtzberg talks about her research involving umbilical cord blood.
Guest: Eric Topol, MD
Host: Paul Raeburn
One of the nation's leading cardiologists says we are now living through the greatest acceleration of research in the history of medicine. Medical research, right now, is undergoing a revolution the likes of which has never been seen before--and will never be seen again. Six years after it was completed, the human genome project is paying off--beyond anyone's expectations.
Guest: David A Greenberg
Host: Bruce Bloom, DDS, JD
Dr. David Greenberg, Dir., Division of Statistical Genetics, Professor, Dept. of Biostatistics Mailman School of Public Health and NY state Psychiatric Institute Columbia-Presbyterian MC. NY discusses the competing priorities in medical research.
Guest: David A Greenberg
Host: Bruce Bloom, DDS, JD
Dr. David Greenberg, Dir., Division of Statistical Genetics, Professor, Dept. of Biostatistics Mailman School of Public Health and NY State Psychiatric Inst. Columbia-Presbyterian MC,NY is discussing how the use of genetic analysis is improving our understanding epilepsy.
Guest: David A Greenberg
Host: Bruce Bloom, DDS, JD
Dr. David Greenberg, Director, Division of Statistical Genetics, Professor, Dept. of Biostatistics Mailman School of public Health and NY State Psychiatric Institute Columbia- Presbyterian MC, NY is discussing how computer simulations can help find genes that influence diseases.
Guest: David A Greenberg
Host: Bruce Bloom, DDS, JD
Dr. David Greenberg, Dir. , Division of Statistical Genetics,Professor, Dept. of Mailman School of Public Health and New York State Psychiatric Institute Columbia- Presbyterian Medical Center in NY, will be discussing the power and problems of finding genes that influence disease.
Guest: Daniel Barbash, PhD
Host: Paul Raeburn
Most genes form as alterations of existing genes. But now researchers have identified genes that seem to have come out of nowhere--genes unlike anything found in any genome. Where do they come from? Do they represent something outside of evolution? Join us and find out. Hosted by Paul Raeburn
Host: Bruce Bloom, DDS, JD
Guest: Jeffrey Settleman, PhD
These days treatment decisions often rely on genetics and biomarkers. Are we entering the age of personalized medicine? Dr. Bruce Bloom hosts.
Guest: Jeffrey Settleman, PhD
Host: Bruce Bloom, DDS, JD
We’ve been fighting cancer for almost 50 years without real success. Could molecular targeted drugs finally be the answer?
Guest: Craig Venter, PhD
Host: Paul Raeburn
James Watson, who, with Francis Crick determined the structure of DNA, was presented recently with his own genome on a disk. Craig Venter, the innovator who raced the government's human genome project to a tie in 2000, has now decoded his own genome and is publishing a book about it. Does this herald the era of personal genomes? And, if so, what will that mean for society, for medicine, and for physicians?
Guest: Craig Venter, PhD
Host: Paul Raeburn
Researchers have transferred genes in and out of bacteria for decades, but now one group has achieved a historic feat: The transplant of a complete genome from one bacterium to another. Why, you ask? It's one of the key steps needed for the creation of synthetic life--new organisms, not seen in nature, to cure disease, produce fuel, and improve environmental health.
Host: Larry Kaskel, MD
Guest: Elizabeth Tieman, MD
Work-life balance: how many of us can say we have it, let alone come close to having it? Board-certified radiologist Dr. Betsy Tieman is one healthcare professional who can say she achieved work-life balance by leaving private practice where she was working 14 hours a day to take advantage of locum tenens work, which also enabled her to train and compete in triathlons.
Guest: Evan Eichler, PhD
Host: Paul Raeburn
When the human genome project was finished in 2000, the job of understanding human genetic had only begun. Now researchers are decoding the genomes of 62 carefully chosen people to determine precisely how we are all different--and all alike. Hosted by Paul Raeburn.
Guest: J. Lee Nelson, MD
Host: Michael Benson, MD
Microchimerism may have a role to play in evolving theories in transplantation biology, HIV, Alzheimer's disease and even breast cancer. Dr. Nelson discusses some cutting-edge hypotheses and strange observations in each of these fields.
Guest: J. Lee Nelson, MD
Host: Michael Benson, MD
While the transfer and persistence of fetal cells into the maternal circulation is counter-intuitive, an even stranger occurrence is the reverse. Dr. Nelson discusses the evidence that maternal cells are transferring into the fetus. In the case of neonatal lupus it appears that maternal stem cells differentiate into cardiac tissue and might incite a deleterious fetal immune response. In the case of juvenile diabetes, maternal stem cells may differentiate into islet cells that can produce insulin. It appears that this might mitigate the course of the disease.
Guest: J. Lee Nelson, MD
Host: Michael Benson, MD
Fetal cells persisting in maternal tissues for 50 years and then causing a graft versus host reaction? Medicine does not get more bizarre, but this seems to be the case for systemic sclerosis. Dr. Nelson examines the growing evidence to support this new look at some of the "auto-immune" diseases.
Guest: J. Lee Nelson, MD
Host: Michael Benson, MD
Rheumatoid arthritis often improves during pregnancy. Why? Truth is stranger than fiction here as it seems that that immunologically competent fetal cells transferring into the maternal circulation help mitigate the mother's immune response to "self."
Guest: J. Lee Nelson, MD
Host: Michael Benson, MD
Rheumatoid Arthritis often improves during pregnancy. Why? Truth is stranger than fiction here as it appears that immunologically competent fetal cells leaking into the maternal circulation moderate the maternal immune response to "self."
Guest: Jeffrey Holt, PhD
Host: Paul Raeburn
Researchers at the University of Virginia have identified some 100 genes that contribute to hearing loss, and they are using gene therapy--in animals so far--to correct it. The approach could one day be used to cure children deaf from birth--and even restore hearing to iPod users who turned up the volume too high, for too long. Join host Paul Raeburn.
Guest: Louis Cozolino, PhD
Host: Laura Humphrey, PhD
What happens to the brain as we age? Is there any way to manage or control the changing brain? Are there societal solutions to reverse the effects of an aging brain? Find out in this segment from Dr. Louis Cozolino as he shares his research, and thoughts on the aging brain.
Guest: Walter Koch, PhD
Host: Paul Raeburn
Imagine a virus that heals failing heart cells as it infects them. Researchers say gene therapy could one day be a powerful treatment for heart failure. Join host Paul Raeburn.
Guest: Francis McMahon, MD
Host: Paul Raeburn
A genome-wide scan that looked for evidence of bipolar genes at 500,000 spots around the genome found a surprisingly large number of genes that can contribute to this serious illness.
Guest: Robert Park, PhD
Host: Paul Raeburn
Bob Park, a physicist with the University of Maryland, discusses what science can tell us about when life begins. A critical piece of the puzzle concerns what to do about stem cell research.
Guest: Gregory Critchfield, MD, MS
Host: Michael Benson, MD
In this segment, Dr. Critchfield shares aspects of the basic biology underlying the BRCA genes and their mutations, including carrier frequencies, modes of inheritance, and their relations specifically to colon, ovarian and breast cancer. The conversation concludes with a discussion on genetic testing limitations followed by patient selection recommendations for BRCA tests.
Guest: Gregory Critchfield, MD, MS
Host: Michael Benson, MD
In this segment, Dr. Critchfield provides an in-depth overview of BRCA genes 1 and 2, including their history of discovery, known functions, and types of mutations.
Host: Paul Raeburn
Dr. Colleen McClung explains what the clock gene is and what areas of behavior are regulated by this gene.
Guest: Eugene Pergament, MD
Host: Joel Heller, MD
Dr. Pergament discusses the increase in genetic testing in pre-implantation genetic testing. Dr. Pergament also explains stem cell research and why this can be beneficial for treatment of many diseases.
Guest: Eugene Pergament, MD
Host: Joel Heller, MD
Dr. Pergament discusses the past, present and future of genetic testing.
Guest: Eugene Pergament, MD
Host: Joel Heller, MD
Dr. Pergament discusses the current state of genetic screening, the role of family history and genetic testing in pregnancy.