by Madaline Spencer and James Radke, PhD | Jun 29, 2023
Nicholas E. Johnson, MD, Associate Professor in the Department of Neurology at Virginia Commonwealth University, summarizes data from the phase 1/2 MARINA trial. This trial tested AOC 1001 in patients with myotonic dystrophy type 1 (DM1). DM1 is a progressive...
by Madaline Spencer | Jun 19, 2023
Staci Kallish, DO, a medical geneticist at Penn Medicine explains the difference between a geneticist and a genetic counselor. A geneticist is a physician trained in the identification and management of genetic conditions, either through genetic residency...
by Madaline Spencer and Peter Ciszewski | Jun 15, 2023
Pierantonio Russo, MD, Chief Medical Officer at Eversana, discusses the expanding role artificial intelligence (AI) plays in the diagnostics of rare conditions. As noted by Dr. Russo, diagnostic delays are expected in rare diseases due to many factors....
by James Radke, PhD and Madaline Spencer | Jun 14, 2023
Dean Suhr, of the MLD Foundation, provides an overview of the philosophy of their foundation when it comes to supporting research for metachromatic leukodystrophy (MLD). MLD is a genetic, lysosomal disorder caused by a deficiency in the enzyme arylsulfatase A...
by Madaline Spencer and James Radke, PhD | Jun 13, 2023
Rennie McCarthy, Chief Executive Officer at Stealth Biotherapeutics, discusses clinical trial development challenges for ultra-rare diseases. Stealth Biotherapeutics is developing elamipretide, a mitochondrial protective agent, as a possible treatment...
