by James Radke, PhD | Mar 26, 2024
Dean Suhr, President and Co-Founder of MLD Foundation, discusses current and emerging treatment options in metachromatic leukodystrophy (MLD). MLD is a genetic lysosomal disorder characterized by the toxic buildup of lipids and other storage materials...
by Madaline Spencer and James Radke, PhD | Jul 19, 2023
Karen Ball, founder of the Surge-Weber Foundation discusses Sturge-Weber Syndrome, a rare neurovascular disease. Sturge-Weber syndrome is a rare neurocutaneous disorder that primarily affects the skin and the central nervous system. It is characterized...
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...
