GeneticsDiagnostic and genetic testing
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.
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.
In this video clip, Timothy Craig, DO of the Penn State Milton S. Hershey Medical Center describes some of the symptoms that may warrant testing for HAE.
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).
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 functions.
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.
Luke Rosen is the father of a daughter with KIF1A associated neurological disorder (KAND) and co-founder of the short-lived, but highly successful patient organization, KIF1A.org.
Scott Schobel, MD, MSc, clinical science leader for Roche’s Huntington Disease Program talks about the role that Huntington disease patient group, throughout the world, helped Roche develop their clinical program focused on Huntington disease.