Genetics

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.

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.