Rare and Genetic Disease Network
Eosinophilic granulomatosis with polyangiitis (Churg Strauss syndrome) is a condition characterized by asthma, high levels of eosinophils (a type of white blood cell that helps fight infection), and inflammation of small to medium sized blood vessels (vasculitis).
Morie Gertz, MD, Hematologist and Chair of Internal Medicine at Mayo Clinic discussed the current unmet needs in the treatment of hereditary TTR amyloidosis, antisense technology, inotersen, and the NEURO-TTR study.
Peter Turecek, Global Medical Affairs, Shire, discusses the Irish Personalised Approach to the Treatment of Haemophilia (iPATH) study, an ongoing collaboration investigating new personalized treatment approaches by tailoring care based on the needs of individual patients.
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.
Michael Jordan, MD, a physician-scientist in the division of Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children’s Hospital Medical Center HLH Center of Excellence, discusses primary hemophagocytic lymphohistiocytosis (HLH) and the phase 2/3 clinical trial presented at the American Society of Hematology (ASH) Annual Meeting in San Diego.
Mohamad Mohty, MD, discusses the management of hematologic diseases with cellular and immune therapies such as Chimeric antigen receptor (CAR) T cells, which have recently emerged as a novel therapeutic approach, yielding complete responses even in heavily pretreated patients with leukemia, lymphoma, and myeloma.
A Phase 3 clinical trial evaluating luspatercept in adults with beta-thalassemia-associated anemia met the primary endpoint. The results were presented at the American Society of Hematology (ASH) in San Diego.
Some long-awaited good news arrived for the Lambert-Eaton Myasthenic syndrome (LEMS) community this week as the U.S. Food and Drug Administration approved Firdapse (amifampridine) tablets for the treatment of LEMS in adults.
Barry Ticho, MD, Chief Medical Officer at Stoke Therapeutics, discusses how his company works with Dravet syndrome advocacy groups, including the Dravet Syndrome Foundation (DSF).
The U.S. Food and Drug Administration granted accelerated approval to Vitrakvi (larotrectinib, Loxo Oncology and Bayer) for the treatment of patients with solid tumors who have an NTRK gene fusion without a known resistance mutation.
Richard A. Basile Co Founder and CEO of BioPontis Alliance for Rare Diseases, discusses his organization’s business model, focus on rare diseases, and willingness to partner with patients, academic centers, investors, and volunteers.
Melissa P. Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore, New York City discusses Krabbe disease (also called globoid cell leukodystrophy), a degenerative disorder that affects the nervous system.