Rare and Genetic Disease Network
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.
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.
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).
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.
Neena Nizar, PhD, co-founder of the Jansen’s Foundation is the personification of the determination.
Bobby Gasper, MD Chief Scientific Officer of Orchard Therapeutics, discussuses his company’s gene therapy being developed for MPS I.
Patricia Welton has two daughters with Ehlers-Danlos syndrome. Her daughters had the disease for years before properly being diagnosed.
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.
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 is a specialty pharmacy company that is highly focused on providing treatment options for persons unable to properly swallow medicine.
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.
Nick Kenny, PhD, Chief Scientific Officer at Syneos Health talks about the challenges in developing clinical trials for rare conditions.