ChallengesExperts share their insights in diagnosing and managing rare conditions
Kristin Smedley, president of Curing Retinal Blindness Foundation, talks about what doctors need to know about conditions such as retinitis pigmentosa and Leber congenital amaurosis.
Andra Stratton, president of Lipodystrophy United explains how lipodystrophy is often misdiagnosed or under-diagnosed. Lipodystrophy is a rare medical condition in which persons have an abnormal distribution of fat in the body. There are numerous types of...
New published data shows that the monoclonal antibody combination therapy, REGN-EB3 developed by Regeneron Pharmaceuticals, and the monoclonal antibody Mab114 developed by the National Institutes of Health and licensed by Ridgeback Biotherapeutics, are superior to...
Gary Joseph Lelli, MD, of the Department of Ophthalmology at Weill Cornell Medicine discusses surgical options currently available to treat thyroid eye disease due to Graves’ disease.
Rajiv Ratan, MD, PhD, of the Burke Neurological Institute, explains hemorrhagic stroke.
David Pearce, PhD of Sanford Research discusses how organizations can partner in rare diseases.
The U.S. Food and Drug Administration (FDA) has approved Givlaari (givosiran) to treat acute hepatic porphyria, a rare genetic disorder that causes a buildup of porphyrins in the body.
Brigid Brennan of the Friedreich’s Ataxia Research Alliance (FARA) discusses Friedreich’s ataxia (FA), a degenerative neuro-muscular disorder due to mutations in the FXN gene that reduces the production of frataxin, a protein important for proper mitochondrial functions.
Dennis Jackman, Senior Vice President, Public Affairs at CSL Behring discusses rare disease drug pricing, patient involvement in the drug development process, and drug access.
Gary Joseph Lelli, MD, of the Department of Ophthalmology at Weill Cornell Medicine talks about the incidence and treatment options for thyroid eye disease due to Graves’ disease.