by James Radke, PhD | Apr 17, 2023
Nils Confer, Vice President, Medical and Patient Strategies at Aceragen, provides an overview of Farber disease. Farber disease is a lysosomal disorder due to mutations in the ASAH1 gene. It leads to reduced activity of acid ceramidase. This deficiency results...
by James Radke, PhD and Madaline Spencer | Apr 13, 2023
Samiah Al-Zaidy, MD, Vice President of Clinical Development and Lead on the Passage Bio GM1 Gangliosidosis (GM1) Program, discusses the updated data from Imagine-1 evaluating PBGM01 in GM1, which was presented at WORLDSymposium 2023. Background of GM1 GM1 is an...
by James Radke, PhD | Apr 12, 2023
Raphael Schiffmann, MD, of 4D Molecular Therapeutics. Schiffmann, discusses the mechanism of action of 4D-310, a gene therapy in development that targets the heart in Fabry disease. Fabry disease is a rare genetic disorder that results in the buildup of...
by James Radke, PhD and Craig McCabe | Apr 10, 2023
MSD is a rare genetic disease due to mutations in the SUMF1 gene. It is an autosomal recessive disorder, so both parents must be carriers and pass it on to their child. SUMF1 is involved in the development of formylglycine-generating enzyme (FGE) and absence of...
by James Radke, PhD | Apr 7, 2023
Pramod Mistry, MD, PhD, Professor of Medicine at Yale University School of Medicine, discusses the efficacy of enzyme replacement therapy (ERT) in both Gaucher disease type 1 and type 3. Gaucher disease is a rare lysosomal storage disorder in which...
