Challenges
Experts share their insights in diagnosing and managing rare conditions
Scioto Biosciences: Focused on Reducing Necrotizing EnterocolitisJim 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 OptionsGail 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.
Sanfilippo Syndrome (MPS III) OverviewHeather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome.
Progressive Familial Intrahepatic Cholestasis (PFIC) OverviewRon 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 DiseasesManu 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.
Morquio and Maroteaux-Lamy Syndrome (MPS IV and VI) OverviewHeather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City provides an overview of Mucopolysaccharidosis type IV and VI (MPS IV and VI). Mucopolysaccharidosis type IV is also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton.
Alnylam’s Pending Approval of PatisiranBarry 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 NetworkJohn 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.
Gorlin Syndrome OverviewJean Tang, MD, PhD is co-founder of PellePharm and serves on the PellePharm board of directors. She is a practicing dermatologist and associate professor of dermatology at Stanford University.