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...
by James Radke, PhD | Apr 5, 2023
Pramod Mistry, MD, PhD, Professor of Medicine at Yale University School of Medicine, provides an overview on how persons with Gaucher disease type 3 are managed. Gaucher disease is a rare lysosomal disorder due to reduced levels of glucocerebrosidase that...
by James Radke, PhD | Apr 3, 2023
Raphael Schiffmann, MD, of 4D Molecular Therapeutics, discusses the cardiac effects of 4D-310 in adults with Fabry disease. Fabry disease is a rare lysosomal disorder that results in the buildup of globotriaosylceramide. Characteristic features of Fabry...
