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...

Gene Therapy and Metachromatic Leukodystrophy (MLD)

  Bobby Gasper, MD, Chief Scientific Officer of Orchard Therapeutics, discusses gene therapy being developed to treat children with metachromatic leukodystrophy (MLD). MLD is a lysosomal storage disorder characterized by the accumulation of sulfatides in cells....