by Peter Ciszewski | Dec 3, 2019
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...
by Peter Ciszewski | Nov 29, 2019
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...
by Peter Ciszewski | Nov 27, 2019
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...
by Peter Ciszewski | Nov 25, 2019
The U.S. Food and Drug Administration (FDA) has approved Oxbryta (voxelotor) to treat persons, 12 years and older, with sickle cell disease. Voxelotor blocks deoxygenated sickle hemoglobin polymerization and thereby inhibits red blood cell for ‘sickling’. Sickle cell...
by Peter Ciszewski | Nov 25, 2019
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....