Testing for Hereditary Angioedema is Easy

  By Peter Ciszewski;  September 30, 2019 Hereditary angioedema (HAE) is a rare genetic disease characterized by repeated edema attacks that can affect any cutaneous or mucosal surface. The most common areas of swelling are the face, larynx, tongue, extremities,...

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...

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....

Friedreich’s Ataxia

  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...

Getting Patient Groups, Researchers, and Industry to Share Data

  Femida Gwady-Sridhar, PhD, founder of Pulse Infoframe talks about the need for better collaboration between patient groups and researchers in regard to collecting and using data more effectively and efficiently. “For several years I did research in cardiology...
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