Inherited Retinal Diseases, Genetic Testing, and What Eye Care Professionals Can Do Today

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.

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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.

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.

Autism Spectrum Disorder affects communication skills as well as emotional & social development. Researchers have been studying the brain for decades to better understand how these developmental differences manifest as autism. Recent studies that measure rapid eye movement (REM) have been showing great promise in elucidating the origins and mechanisms of disease.

Host Paul Rokusie sits down with Dr. John Foxe to talk about his study on rapid eye movement, its implications on disease pathogenesis, and new insights it can bring to future autism research.

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.

Dr. Jennifer Caudle welcomes Dr. Patrick Spencer, Chairman of the Department of Ophthalmology at Grandview Medical Center in Dayton, Ohio. Their discussion centers on primary care manifestations of sickle cell retinopathy, from early to late-stage presentations and the gold standard treatment approaches along this disease course.

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.