Mucopolysaccharidoses (MPSs) are a group of genetic lysosomal disorders in which persons have low levels of specific enzymes that leads to an abnormal accumulation of complex carbohydrates (mucopolysaccharides or glycosaminoglycans).
Anne R. Pariser, MD, Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences at the National Institutes of Health discusses rare disease research.
Mark Pykett, PhD, Chief Scientific Officer at PTC Therapeutics, discusses his company’s product for Duchenne muscular dystrophy, Translarna.
Scott Schobel, MD, MSc, Associate Group Medical Director and Clinical Science Leader for the IONIS/Roche HTT Rx program at Roche/Genentech Neuroscience discusses Huntington’s disease and the GENERATION HD1 trial (Global EvaluatioN of Efficacy and Safety of Roche/Genentech AnTIsense OligoNucletide for Huntington’s Disease). The GENERATION HD1 study (NCT03761849) is assessing …
Ilan Ganot, Co-Founder, President and CEO of Solid Biosciences provides an overview of his company and it’s focus on Duchenne muscular dystrophy (DMD). Mr. Ganot started Solid in 2013 to find treatments, and potentially a cure, for DMD, a disease that afflicts his son Eytani.
Mark Pykett, PhD, Chief Scientific Officer at PTC Therapeutics, discusses the importance of genetic testing in rare diseases.