This week, numerous studies were published in peer-reviewed journals that highlight some of the innovative work that researchers around the world are doing to advance our understanding of rare conditions. Below are some of the highlights. Luspatercept in patients with... Melissa Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore talks about the need for newborn screening to help eliminate the long and often frustrating delays in a getting a proper diagnosis for rare conditions.... David Pearce, PhD, of the Coordination of Rare Diseases at Sanford (CoRDS) talks about Sanford Health, one of the largest health systems in the United States. Sanford Health provides access to integrated health care, genomic medicine, senior care and services,... 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,... 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... 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.... Page 1 of 1812345...10...»Last » 
