by Madaline Spencer and James Radke, PhD | Jul 18, 2023
Rennie McCarthy, Chief Executive Officer at Stealth Biotherapeutics, provides an overview of Barth syndrome. Mutations in the tafazzin (TAZ) gene cause Barth syndrome, a rare genetic disorder. This mutation results in reduced levels of cardiolipin, a...
by Madaline Spencer and James Radke, PhD | Jul 12, 2023
Jill Kiernan summarizes the latest research involving Tatton Brown Rahman Syndrome (TBRS). Jill is the executive director of the TBRS Community, a patient advocacy group committed to bringing together families, clinicians, and researchers interested in this rare...
by Madaline Spencer and James Radke, PhD | Jul 10, 2023
Frank Rivera of Stronger Than Sarcoidosis and Sarcoidosis of Long Island, two patient advocacy groups focused on raising awareness and research, discusses the rare disease. Sarcoidosis is a rare, systemic, inflammatory disorder characterized by the...
by Madaline Spencer and James Radke, PhD | Jul 5, 2023
Brad Chapman, Head of US Epilepsy and Rare Syndromes at UCB, discusses the recent decision by the US Drug Enforcement Agency (DEA) to deschedule fenfluramine. In 2020, the FDA approved Fenfluramine as a serotonin agonist for the treatment of seizures caused by...
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...
