Rare and Genetic Disease Network
Featured
Phase 1/2 Study Evaluating SOBI003 for Treatment of Mucopolysaccharidosis Type IIIA (MPS IIIA)
Len Walt, Vice President, Medical Affairs, North America discusses his company’s focus on rare diseases, specificially MPS IIIA or Sanfilippo A syndrome.
FDA Approval of Revcovi for Treating ADA-SCID Patients
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.
Using Genomics to Better Understand Rare Diseases
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.
FDA Approves Hemlibra for Hemophilia A Without Factor VIII Inhibitors
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.
Translational Science at the NIH: Moving Beyond “One Disease at a Time”
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.
The Important Role of Diagnostic Companies in Rare Diseases
Katherine Stueland, Chief Commercial Officer at Invitae, discusses the roles of genetic companies in assisting patients and physicians in diagnosing rare diseases.
Sarepta Presents Positive Gene Therapy Data for Duchenne Muscular Dystrophy
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).
Cystic Fibrosis and Pulmonary Exacerbations
Greg Duncan, CEO of Celtaxsys discussed cystic fibrosis (CF) and the role of pulmonary exacerbations.
Current State of Duchenne Muscular Dystrophy and Future Considerations
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.
FDA Approves Antibacterial Drug for Rare Lung Disease
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).
Rare Disease Advocacy
Jodie Gillon Global Medical Lead, Patient Engagement Rare Diseases at Pfizer discusses Pfizer’s role in patient advocacy.
Vascular Ehlers-Danlos Syndrome (vEDS)
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.
Special Reports
Rare in Common Podcast
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
Rare Disease Diagnosis: Huntington’s Disease
Rare in Common Podcast
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
