ChallengesExperts share their insights in diagnosing and managing rare conditions
- Daniel de Boer Discusses His Company’s Focus on Usher Syndrome
Daniel de Boer, Founder and CEO of ProQR, discusses his company’s clinical program focusing on Usher syndrome is a rare genetic disease that is the leading cause of combined deafness and blindness.
- Scioto Biosciences Focus on Microbiome Therapeutics
Dr. Joe Trebley, Co-founder and CEO of Scioto Biosciences, discusses his company’s focus on developing a novel probiotic delivery platform that provides enhanced function and persistent probiotic benefits to patients.
- Dilanubicel Receives Orphan Drug Status for Reduction of Morbidity and Mortality Associated With HSCT
The U.S. Food and Drug Administration (FDA) granted Orphan Drug Designation to dilanubicel (Nohla Therapeutics) for the reduction of morbidity and mortality associated with hematopoietic stem cell transplant (HSCT).
- Scioto Biosciences: Focused on Reducing Necrotizing Enterocolitis
Jim Schulz, Co-founder and Chief Financial Officer of Scioto Biosciences, discusses his company’s focus on developing therapies devoted to having a impact on the delivery of microbiome therapeutics with the goal of reducing the incidence of necrotizing enterocolitis (NEC).
- 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.