CRB1 Retinal Disease and Quality of Life

  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. Curing Retinal Blindness Foundation is a non-profit organization focused on...

Rare Diseases are a Global Concern

  Femida Gwady-Sridhar, PhD, talks her involvement with Rare Disease International (RDI). RDI is a global alliance of rare disease patient organizations designed to be an international voice for the rare disease community. As Dr. Gwady-Sridhar explains in this...

Lipodystrophy is Often Misdiagnosed

  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...

The Origins of KIF1A.org

  Luke Rosen, founder of KIF1A.org talks about the origins if this rare disease patient organization to help collect data on children with KIF1A associated neurological disorder (KAND). KAND is due to a mutation in the KIF1A gene. Defects in that gene lead to a...

Surgery for Thyroid Eye Disease

  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. Graves’ disease is an immune system disorder that results in the...
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