Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses her experience working with rare diseases and neurogenetics.
The U.S. Food and Drug Administration approved cenegermin (Oxervate), for the treatment of neurotrophic keratitis, a rare disease affecting the cornea (the clear layer that covers the colored portion of the front of the eye). This is the first approved drug for this eye disorder that is estimated to affect …
Daniel de Boer, Founder and CEO of ProQR, discussuses Usher syndrome, a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa.
Luca Santarelli, MD of Therachon discusses his company’s lead pipeline candidate, TA-46, a novel protein therapy in development for achondroplasia, the most common form of short-limbed dwarfism.
The U.S. Food and Drug Administration (FDA) has approved ivacaftor (KALYDECO) to be used in children with cystic fibrosis ages under the age of 2 years old who have at least 1 mutation in their cystic fibrosis transmembrane conductance regulator (CFTR) gene that is responsive to the drug.
The Food and Drug Administration (FDA) approved Alnylam Pharmaceuticals’ patisiran (Onpattro) infusion for the treatment of polyneurotherapy caused by hereditary transthyretin-mediated amyloidosis (hATTR) in adult patients.