Len Walt, Vice President, Medical Affairs, North America discusses his company’s focus on rare diseases, specificially MPS IIIA or Sanfilippo A syndrome.
Daniel MacArthur, PhD is an Institute Member at the Broad Institute of MIT and Harvard, and co-lead of the Broad’s Center for Mendelian Genomics and Rare Genomes Project.
The FDA expanded the approval of Hemlibra (emicizumab-kxwh) to include routine prophylaxis to prevent or reduce the frequency of bleeding episodes among individuals with hemophilia A without factor VIII inhibitors.
Philip John Brooks, PhD, Program Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health (NIH) discusses his work in rare diseases at the NIH.
Katherine Stueland, Chief Commercial Officer at Invitae, discusses the roles of genetic companies in assisting patients and physicians in diagnosing rare diseases.