Rare and Genetic Disease Network
Featured
Tenosynovial Giant Cell Tumor (TGCT)
Tenosynovial giant cell tumor (TGCT) is a benign tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis (PVNS).
Future Treatment Options for Multiple Myeloma
Amrita Krishnan, MD, hematologist-oncologist at the City of Hope Comprehensive Cancer Center talks about what the future holds for managing people with multiple myeloma.
Journal Watch: MDS, Hemophilia A, Ectodermal Dysplasia, Hemorrhagic Telangiectasia, and More
This week, numerous studies were published in peer-reviewed journals that highlight some of the innovative work that researchers around the world are doing to advance our understanding of rare conditions.
Risdiplam and Spinal Muscular Atrophy
Claudio Santos, MD, MBA of PTC Therapeutics provides an update on the orphan drug being developed by the company, in partnership with Roche, to treat spinal muscular atrophy (SMA).
Gene Therapy and Hemophilia A
Adrian Woolfson, MD, PhD, of Sangamo Therapeutics talks about the physical and psychological advantages of using gene therapy to treat hemophilia A.
FDA Approves Drug to Treat Gastrointestinal Stromal Tumor (GIST) Based on Phase I Study
The U.S. Food and Drug Administration (FDA) has approved Ayvakit (avapritinib) for treating adults with unresectable or metastatic gastrointestinal stromal tumor (GIST) with a platelet-derived growth factor receptor alpha (PDGFRA) exon 18 mutation.
Eliminating the Diagnostic Odyssey with Newborn Screening
Melissa Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore talks about the need for newborn screening to help eliminate the long and often frustrating delays in a getting a proper diagnosis for rare conditions.
CME Program for Eosinophilic Granulomatosis with Polyangiitis (EGPA)
Michael E. Wechsler, MD, MMSc, Professor of Medicine at National Jewish Health and University of Colorado School of Medicine talks about the need for clinicians to be more aware about Eosinophilic granulomatosis with polyangiitis (EGPA).
Why Joint Pain Is Common in Hemophilia
Gallia Levy, MD, PhD, Associate Group Medical Director, at Genentech explains why joint pain is so prevalent in persons with Hemophilia A.
Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a rare inherited neuromuscular disorder caused by an inadequate level of the survivor motor neuron (SMN) protein due to mutations in the SMN1 gene. The SMN protein appears to play a role in regulating small nuclear ribonucleoproteins...
Programmed Cell Death Following Hemorrhagic Stroke
Rajiv Ratan, MD, PhD, of the Burke Neurological Institute, explains the mechanisms involved in how cells undergo ‘programmed death’ following a hemorrhagic stroke.
Small Biotech Often Better Suited to Develop Rare Disease Therapies
Gaurav Shah, MD, Chief Executive Officer & President of Rocket Pharmaceuticals explains the advantages that smaller biotech companies have in developing treatments for rare diseases.
Special Reports
Tenosynovial Giant Cell Tumor (TGCT)
Clinical Trials and Rare Diseases
Accelerating the Road to Treatment: The Global Commission to End the Diagnostic Odyssey for Children
Mucopolysaccharidosis (MPS) Resource Center
Overview of the Mucopolysaccharidoses
Rare in Common Podcast
American Society of Hematology Conference Coverage
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
Rare Disease Diagnosis: Huntington’s Disease
Tenosynovial Giant Cell Tumor (TGCT)
Clinical Trials and Rare Diseases
Accelerating the Road to Treatment: The Global Commission to End the Diagnostic Odyssey for Children
Mucopolysaccharidosis (MPS) Resource Center
Overview of the Mucopolysaccharidoses
Rare in Common Podcast
American Society of Hematology Conference Coverage
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
