Rare and Genetic Disease Network
Len Walt, Vice President, Medical Affairs, North America discusses his company’s focus on rare diseases, specificially MPS IIIA or Sanfilippo A syndrome.
The FDA approved Revcovi (elapegademase-lvlr) injection in the United States, for the treatment of adenosine deaminase severe combined immune deficiency (ADA-SCID) in pediatric and adult patients.
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.
Sarepta Therapeutics announced that at the 23rd International Congress of the World Muscle Society in Mendoza, Argentina, Jerry Mendell, MD, of Nationwide Children’s Hospital presented positive updated results from its gene therapy clinical trial assessing AAVrh74.MHCK7.micro-Dystrophin in individuals with Duchenne muscular dystrophy (DMD).
Greg Duncan, CEO of Celtaxsys discussed cystic fibrosis (CF) and the role of pulmonary exacerbations.
Jennifer McNary, Rare Disease Advocate, explains why there is so much interest in Duchenne muscular dystrophy and some of the future considerations for this rare diease.
The U.S. Food and Drug Administration approved a new drug, Arikayce (amikacin liposome inhalation suspension), for the treatment of lung disease caused by a group of bacteria, Mycobacterium avium complex (MAC) in a limited population of patients with the disease who do not respond to conventional treatment (refractory disease).
Jodie Gillon Global Medical Lead, Patient Engagement Rare Diseases at Pfizer discusses Pfizer’s role in patient advocacy.
William T. Andrews, MD, FACP, Chief Medical Officer of Acer Therapeutics discusses his company’s focus on Vascular Ehlers-Danlos Syndrome (vEDS), an inherited connective tissue disorder that is caused by defects in a protein called collagen.