ChallengesExperts share their insights in diagnosing and managing rare conditions
- Dr. David Birch Explains X-Linked Retinoschisis (XLRS)
David Birch, PhD, Scientific Director at the Retina Foundation discusses X-linked retinoschisis (XLRS) is an inherited early onset retinal degenerative disease caused by mutations in the RS1 gene. It is the leading cause of juvenile macular degeneratio …
- FDA Approves Tiglutik for the Treatment of Amyotrophic Lateral Sclerosis
The US Food and Drug Administration (FDA) approved Tiglutik (riluzole) oral suspension for the treatment of amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease.
- The Challenges of Diagnosing Primary Biliary Cholangitis
Gail Cawkwell, MD, PhD, Senior Vice President, Medical Affairs at Intercept, provides an overview of primary biliary cholangitis (PBC), a rare liver disease that is caused by an autoimmune reaction.
- Pompe Disease: Overview, Diagnosis Challenges, Treatments, and Emerging Therapies
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Pompe disease, an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells.
- Jeremy Levin: Challenges of Working with Rare Diseases
Jeremy Levin, Chairman and Chief Executive Officer of Ovid Therapeutics, discusses the challenges of a small biotech company working with rare diseases, especially rare neurological disorders.
- Albiero Pharma Overview and Focus on Rare Pediatric Liver Diseases
Ron Cooper, President and CEO of Albireo, discusses his company and lead product. Albireo is a clinical-stage biopharmaceutical company focused on the development of novel bile acid modulators to treat orphan pediatric liver diseases and other liver or gastrointestinal diseases and disorders.
- 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.