Rare and Genetic Disease Network
Featured
Neuromyelitis Optica Spectrum Disease (NMOSD)
Hideki Garren, MD, PhD, global head of neuroimmunology at Roche discusses neuromyelitis optica spectrum disease (NMOSD).
Roche’s RG6024 Showing Promise in Huntington’s Disease Study
Scott Schobel, MD, MSc, clinical science leader for Roche’s Huntington Disease Program, discusses RG6042, a RNA antisense drug that can reduce the synthesis of the Huntington protein and thereby, reduce its toxic effects in the brain.
Approved and Emerging Therapies for Mucopolysaccharidoses (MPS)
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses some of the approved and emerging therapies for mucopolysaccharidoses (MPSs), a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.
Rare Diseases Need to Be Considered Early in a Patient’s Diagnostic Journey
Prof. Arndt Rolfs, MD, Chief Executive Officer at Centogene discuses the challenges of diagnosing rare diseases and how rare diseases need to be considered early in the diagnostic work up.
The Rare Disease Film Festival
Daniel DeFabio discusses the Rare Disease Film Festival, a relatively new event showcasing films from around the world which address the challenges of life with a rare disease. The first event was held in Oct of 2017 in Boston, MA.
Global Head of Neuroimmunology at Roche Discusses NMO Data
Hideki Garren, MD, PhD, global head of neuroimmunology at Roche Genentech, discusses neuromyelitis optica spectrum disease (NMOSD), a rare neurological disease that Roche is currently developing a drug to treat.
Defeating MSA (Multiple System Atrophy)
Philip Fortier, executive director of Defeat SMA USA, Defeat SMA Canada, and the MSA Awareness Shoe. Multiple System Atrophy (MSA) is a rare, neurodegenerative disorder that largely affects the autonomic nervous system.
Huntington’s Disease Overview
Scott Schobel, MD, MSc is the clinical science leader for Roche’s Huntington Disease Program.
Ehlers Danlos Syndrome
Shani Weber, Patient and Community Advisor for the Ehlers Danlos Society recently talked to us about the role this international organization plays in educating people, including those in the medical community about Ehlers-Danlos syndrome (EDS).
Batten Disease Explained
David Anderson, PhD of Spark Therapeutics is helping the company develop a gene therapy for Batten disease. In this clip, Dr. Anderson describes this rare disease and the need for a gene therapy to cure this progressive, neurodegenerative disorder.
FDA Approves Therapy for Symptomatic Tenosynovial Giant Cell Tumor
The U.S. Food and Drug Administration (FDA) granted approval to Turalio (pexidartinib) capsules for the treatment of adult patients with symptomatic tenosynovial giant cell tumor (TGCT) associated with severe morbidity or functional limitations and not responsive to...
Lipodystrophy – A Rare Disease, But Not That Rare
Andra Stratton, President and co-founder of Lipodystrophy United talks about the foundation and the large increase in individuals being diagnosed with the disease, possibly as a result of the work LU has done to raise awareness of this rare condition.
Special Reports
Tenosynovial Giant Cell Tumor (TGCT)
Mucopolysaccharidosis (MPS) Resource Center
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
Tenosynovial Giant Cell Tumor (TGCT)
Mucopolysaccharidosis (MPS) Resource Center
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
