by Madaline Spencer and Peter Ciszewski | Jul 20, 2023
Rennie McCarthy, Chief Executive Officer at Stealth Biotherapeutics, provides an overview of mitochondrial myopathy, or myopathic mitochondrial DNA depletion syndrome. Mitochondrial myopathy is a rare genetic disorder caused by mutations in nuclear...
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 Peter Ciszewski | Jul 11, 2023
Kim Moran, Ph.D., MBA, Head of US Rare Diseases at UCB, discusses the use of phish finder programs to find undiagnosed patients. AI and data mining programs can help companies find persons with early symptoms of diseases based on clinical records....
