Rare and Genetic Disease Network
Featured
Podcast Focused on Rare Diseases
Rare in Common, a podcast hosted by Andra Stratton, regularly posts conversations with leaders in the rare disease community to help them share their stories.
FDA Grants Orphan Drug Designation to ARO-ANG3 for HoFH
The U.S. Food and Drug Administration (FDA) granted orphan drug designation to ARO-ANG3 (Arrowhead Pharmaceuticals) for the treatment of homozygous familial hypercholesterolemia (HoFH).
Next Generation Gene Therapy
Odylia Therapeutics is a non-profit corporation working to help develop gene therapies for rare eye disease; in this clip Harrison Brown, PhD, BBA, the company’s Chief Science Officer, discusses what will be the next ‘big thing’ in gene therapy development.
PTC Therapeutics’ Clinical Focus on Rare Diseases: SMA, FD, and AADC Deficiency
Mark Pykett, PhD, Chief Scientific Officer at PTC Therapeutics, discusses three of his company’s clinical programs, including Spinal Muscular Atrophy, Familial Dysautonomia (FD) and AADC Deficiency.
Lynn O’Connor Vos Provides an Overview of the Muscular Dystrophy Association
Lynn O’Connor Vos, President and Chief Executive Officer of the Muscular Dystrophy Association (MDA) provides an overview of her association.
Mucopolysaccharidosis (MPS) Resource Center
Mucopolysaccharidoses (MPSs) are a group of genetic lysosomal disorders in which persons have low levels of specific enzymes that leads to an abnormal accumulation of complex carbohydrates (mucopolysaccharides or glycosaminoglycans).
Typical Physical Features Across All SubTypes of Mucopolysaccharidoses (MPSs)
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses some of the typical physician features across all subtypes of ,mucopolysaccharidoses (MPSs), a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.
Gene Therapy to Treat Localized Scleroderma
John Maslowski, President and Chief Executive Officer (CEO) of Fibrocell Science, discusses his company’s gene therapy pipeline, including a therapy to treat localized scleroderma.
Odylia Therapeutics – A Nonprofit Gene Therapy Company
Scott Dorfman, CEO of Odylia Therapeutics, explains the origins and philosophy of Odylia Therapeutics, a non-profit company designed to find treatments for rare disease likely to be overlooked by for-profit organizations.
Update on Patisiran to Treat Hereditary ATTR
Akshay Vaishnaw, MD, PhD, Chief Medical Officer at Alnylam Pharmaceuticals discussed the company’s approved RNA interference (RNAi) drug, Patisiran, to treat to hereditary transthyretin-mediated amyloidosis (ATTR).
Barriers to Recruiting Patients for Rare Disease Clinical Trials
Dennis Jackman, senior vice-president of public affairs at CSL Behring discusses some of the barriers to recruiting participants to be in clinical trials for rare diseases.
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).
Special Reports
Mucopolysaccharidosis (MPS) Resource Center
Tenosynovial Giant Cell Tumor (TGCT)
Accelerating the Road to Treatment: The Global Commission to End the Diagnostic Odyssey for Children
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
Mucopolysaccharidosis (MPS) Resource Center
Tenosynovial Giant Cell Tumor (TGCT)
Accelerating the Road to Treatment: The Global Commission to End the Diagnostic Odyssey for Children
Overview of the Mucopolysaccharidoses
Rare in Common Podcast
American Society of Hematology Conference Coverage
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
