ChallengesExperts share their insights in diagnosing and managing rare conditions
- Physician and Patient Resources for Primary Biliary Cholangitis
Gail Cawkwell, MD, PhD, Senior Vice President, Medical Affairs at Intercept, provides discusses some of the physician and patient resources regarding primary biliary cholangitis (PBC), a rare liver disease that is caused by an autoimmune reaction.
- FDA Approves New Prophylactic Drug for Rare Hereditary Angioedema
The U.S. Food and Drug Administration (FDA) approved lanadelumab (Takhzyro), the first monoclonal antibody to help prevent attacks of hereditary angioedema (HAE) in patients aged 12 years and older with types I and II of the disease. HAE is a rare and …
- Working With Rare Nerogenetic Disorders
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.
- FDA Approves First Drug for Neurotrophic Keratitis
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 fewer than 5 in 10,000 individuals.
- Usher Syndrome Overview
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.
- A Novel Protein Therapy in Development for Achondroplasia (Short-Limbed Dwarfism)
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.
- FDA Allows Use of Kalydeco in Children Under Two Years Old
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.
- Patisiran: First RNAi Drug Approved to Treat Polyneuropathy Caused By hATTR
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.
- Primary Biliary Cholangitis: Challenges of Diagnosing and Treating this Rare Disease
Gail Cawkwell, MD, PhD, Senior Vice President, Medical Affairs at Intercept, discusses the challenges of diagnosing and treating primary biliary cholangitis (PBC), a rare liver disease that is caused by an autoimmune reaction.
- Innovation in Newborn Screening
Richard West, Founder and CEO of Baebies, discusses the public health program of newborn screening.