Rare and Genetic Disease Network
Featured
Niemann-Pick Disease
Niemann-Pick disease (NPD) is a group of inherited metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain.
Venclexta Data Positive for AML
Rod Humerickhouse, MD, PhD, asset strategy leader at AbbVie discusses some of the Venclexta (Venetoclax) data presented at this year’s 60th American Society of Hematology’s 2018 annual meeting in San Diego.
Eosinophilic Granulomatosis With Polyangiitis
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).
Hereditary TTR Amyloidosis and the NEURO-TTR Study
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.
iPATH Study: Key Biomarkers That Affect Bleeding Patterns, Response to Treatment for Hemophilia A
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.
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.
New Treatment Option for Primary Hemophagocytic Lymphohistiocytosis
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.
ASH ’18: Management of Hematologic Diseases With Cellular and Immunotherapies
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.
Luspatercept Successful in Late-Stage Beta Thalassemia Study
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.
FDA Approves First Treatment for Lambert-Eaton Myasthenic Syndrome
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.
Working With Dravet Syndrome Advocacy Groups
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).
FDA Approves Drug for Solid Tumors and NTRK Gene Fusions
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.
Special Reports
Using Genomics to Better Understand Rare Diseases
Rare in Common Podcast
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
Rare Disease Diagnosis: Huntington’s Disease
Using Genomics to Better Understand Rare Diseases
Rare in Common Podcast
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
