Rare and Genetic Disease Network
Featured
Hemophilia Explained
Joe Pugliese of the Hemophilia Alliance, a not-for-profit organization of federally funded hemophilia treatment centers that is working to ensure its member have the expertise, resources and public support to sustain their integrated clinical and pharmacy services for persons with hemophilia and other bleeding disorders.
Tickets Available for Rare Disease Film Festival
The Rare Disease Film Festival focuses exclusively on rare diseases will take place November 9-10, 2019 at the Mission Bay Conference Center in San Francisco.
FDA Approves Scenesse for Erythropoietic Protoporphyria Patients
The U.S. Food and Drug Administration (FDA) granted approval to Scenesse (afamelanotide) to increase pain-free light exposure in adult patients with a history of phototoxic reactions (damage to skin) from erythropoietic protoporphyria (EPP).
Drug Development Requires Patients’ Input To Know What is Important
Luke Rosen is the father of a daughter with KIF1A associated neurological disorder (KAND) and co-founder of the short-lived, but highly successful patient organization, KIF1A.org.
Family Moves from Dubai to the U.S. to Be Closer to Rare Disease Researchers
Neena Nizar, PhD, co-founder of the Jansen’s Foundation is the personification of the determination.
Gene Therapy for Hurler Syndrome
Bobby Gasper, MD Chief Scientific Officer of Orchard Therapeutics, discussuses his company’s gene therapy being developed for MPS I.
Rare Disease Education via Art
Patricia Welton has two daughters with Ehlers-Danlos syndrome. Her daughters had the disease for years before properly being diagnosed.
Huntington’s Disease Drug Development and Patient Groups
Scott Schobel, MD, MSc, clinical science leader for Roche’s Huntington Disease Program talks about the role that Huntington disease patient group, throughout the world, helped Roche develop their clinical program focused on Huntington disease.
FDA Awards $15 Million to Develop Medical Products for Rare Diseases
The U.S. Food and Drug Administration (FDA) announced it has awarded over $15 million in new clinical trial research grants to enhance the development of medical products for patients with rare diseases.
Aquestive Therapeutics’ Clinical Pipeline (ALS, LGS, Epilsepsy)
Aquestive Therapeutics is a specialty pharmacy company that is highly focused on providing treatment options for persons unable to properly swallow medicine.
There Are Over 5,000 Neurological Diseases, and Most Are Rare Conditions
David Anderson, PhD, CNS Research Lead at Spark Therapeutics talks about the numerous neurological conditions that have been identified and the concern that most of them are rare diseases and most of them are not being properly managed.
Challenges Facing Rare Disease Clinical Trials
Nick Kenny, PhD, Chief Scientific Officer at Syneos Health talks about the challenges in developing clinical trials for rare conditions.
Special Reports
Mucopolysaccharidosis (MPS) Resource Center
Accelerating the Road to Treatment: The Global Commission to End the Diagnostic Odyssey for Children
Tenosynovial Giant Cell Tumor (TGCT)
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
Accelerating the Road to Treatment: The Global Commission to End the Diagnostic Odyssey for Children
Tenosynovial Giant Cell Tumor (TGCT)
Overview of the Mucopolysaccharidoses
Rare in Common Podcast
American Society of Hematology Conference Coverage
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
