Rare and Genetic Disease Network
Katherine Stueland, Chief Commercial Officer at Invitae, provides an overview of her company and their attendance at this year’s 8th Orphan Drugs and Rare Diseases conference in Boston, MA in September.
Roxana Sulica, MD, Associate Professor, Department of Medicine and Director, Pulmonary Hypertension at NYU Langone in New York City discusses the current tretment options of pulmonary arterial hypertension (PAH), a progressive condition that affects the heart and...
Niemann-Pick disease (NPD) is a group of inherited metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain.
Daniel Glaze, Medical Director of the Blue Bird Circle Rett Center and a Professor in the Departments of Pediatrics and Neurology at Baylor College of Medicine in Houston, discusses ongoing Rett syndrome research and clinical trials, including the ongoing phase 3 STARS trial.
Rachelle Dixon, President and co-founder’s of the HSAN1E Society discusses hereditary sensory and autonomic neuropathy type 1E (HSAN1E), a progressive disorder of the central and peripheral nervous systems.
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Mucopolysaccharidosis type I (MPS I).
Barry Ticho is the Chief Medical Officer at Stoke Therapeutics, and in this clip he provides an overview of his company.
The US Food and Drug Administration (FDA) approved an oral film formulation of clobazam (Sympazan, Aquestive Therapeutics) for the adjunctive treatment of seizures associated with Lennox-Gastaut syndrome (LGS) in patients 2 years and older.
Richard A. Basile,Co-Founder and CEO of BioPontis Alliance for Rare Diseases, discusses the challenges of developing drugs for rare diseases.
Katherine Stueland, Chief Commercial Officer at Invitae, discusses how diagnostic companies work with biotech companies. Katherine also discusses the role of genetic companies in assisting patients and physicians in diagnosing rare diseases.
In the United States, an estimated 2.5 to 3 million people have a gene variant associated sickle cell trait (SCT) and most never have related health complications. Researchers have now identified three health conditions for which people with SCT are at increased risk.
Jennifer McNary, rare disease advocate, looks back at the Sarepta AdComm for Exondys 51 in 2016. She also discusses the role of the patient advocate.