ChallengesExperts share their insights in diagnosing and managing rare conditions
- Primary Biliary Cholangitis: Overview, Diagnosis, and Treatment Options
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.
- Progressive Familial Intrahepatic Cholestasis (PFIC) Overview
Ron Cooper, President and CEO of Albireo, provides and overview of progressive familial intrahepatic cholestasis (PFIC), a rare genetic condition that affects the liver. PFIC is estimated to affect between one in every 50,000 to 100,000 children born worldwide and causes progressive, life-threatening liver disease.
- Oklahoma Medical Research Foundation’s Work in Rare Diseases
Manu Nair, Vice President of Technology Ventures at Oklahoma Medical Research Foundation (OMRF) discusses his group’s focus on building partnerships with industry that advance the research in OMRF’s laboratories.
- Alnylam’s Pending Approval of Patisiran
Barry Greene, President of Alnylam, discusses his company and it’s pending approval of Patisiran, an investigational RNAi therapeutic targeting transthyretin (TTR) in development for the treatment of hereditary ATTR amyloidosis (hATTR amyloidosis).
- Overview of Achondroplasia (Short-Limbed Dwarfism)
Luca Santarelli, MD of Therachon discusses achondroplasia, an autosomal dominant disorder characterized by dwarfism and disproportionate shortness of limbs, accompanied by life-altering complications.
- Caregiver Action Network
John Schall is Chief Executive Officer of Caregiver Action Network (CAN) and in this video he discusses the mission of the CAN and the many valuable resources his group offers. The mission of the Caregiver Action Network is to promote resourcefulness and respect for the more than 90 million family caregivers across the country.
- Daniel de Boer Discusses His Company’s Focus on Leber Congenital Amaurosis
Daniel de Boer, Founder and CEO of ProQR, discusses his company’s focus on Leber congenital amaurosis. This rare eye disorder primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color.
- Hunter Syndrome (MPS Type II) Overview
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome.
- ELX-02: Emerging Therapy for Cystic Fibrosis
Mr. Robert (Bob) E. Ward, Chairman of the Board and Chief Executive Officer of Eloxx Pharmaceuticals provides an overview of his company’s leading drug candidate, ELX-02 for cystic fibrosis.
- Pulmonary Arterial Hypertension (PAH): Emerging Treatment Options
Roxana Sulica, MD, Associate Professor, Department of Medicine and Director, Pulmonary Hypertension at NYU Langone in New York City discusses some of the emerging tretment options for pulmonary arterial hypertension (PAH).