ChallengesExperts share their insights in diagnosing and managing rare conditions
- The State of Rare Diseases
Richard A. Basile, Co Founder and CEO of BioPontis Alliance for Rare Diseases, discusses the state of rare diseases and the critical challenges facing it.
- 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.
- Cystic Fibrosis and Pulmonary Exacerbations
Greg Duncan, CEO of Celtaxsys discussed cystic fibrosis (CF) and the role of pulmonary exacerbations.
- 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).
- The Link Between Lipds and the Origin of Myelomas
Dr. Pramod Mistry discusses the link between lipids and the origin of myelomas, a type of cancer affecting plasma cells. Multiple myeloma is a cancer involving the growth of plasma cells, which are immune cells that make antibodies to fight infection.
- Hemophagocytic Lymphohistiocytosis: Disease Overview and Emerging Treatment Options
en Walt, Vice President, Head of Medical Affairs, SOBI in North America, discusses Hemophagocytic lymphohistiocytosis (HLH), a rare condition in which the body makes too many activated immune cells (macrophages and lymphocytes).
- FDA Approves Subcutaneous Actemra for Systemic Juvenile Idiopathic Arthritis
The US Food and Drug Administration (FDA) approved a subcutaneous formulation of tocilizumab (Actemra, Genentech) for the treatment of active systemic juvenile idiopathic arthritis in patients 2 years of age and older.