Rare and Genetic Disease Network
Featured
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.
Baebies: A New Born Screening Company
Richard West, Founder and CEO of Baebies, a newborn testing diagnostic company, provides an overview of his platform.
Menkes Disease
Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.
ArQule: Focused on Targeted, Biomarker-Defined Patient Population
Brian Schwartz, Chief Medical Officer of ArQule, discusses his company and it’s clinical-stage pipeline consistlng of five drug candidates, all of which are in targeted, biomarker-defined patient populations.
Baebies: A New Born Screening Company
Richard West, Founder and CEO of Baebies, a newborn testing diagnostic company.
Sanfilippo Syndrome (MPS III) Overview
Heather 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.
Synspira: Focusing on Rare Pulmonary Diseases
Dr. Shenda Baker is Chief Executive Officer of Synspira, a clinical stage biotech company developing a new class of glycopolymer-based therapeutics that have the potential to address a major unmet need associated with pulmonary disorders-
APOLLO Phase 3 Clinical Study Results for Hereditary Transthyretin-Mediated Amyloidosis
Alnylam Pharmaceuticals announced the publication of the pivotal study results from the APOLLO Phase 3 trial of patisiran in The New England Journal of Medicine (NEJM).
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.
Cydan: A Clinical Stage Biotech Focused on Sickle Cell Disease
James McArthur, PhD, Founder of Imara and President, R&D of Cydan discusses the development of IMR-687 for the treatment or rare hemoglobinopathies.
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.
Special Reports
Duchenne Muscular Dystrophy
Rare Disease Diagnosis: Huntington’s Disease
Treatment Options for Myeloproliferative Neoplasms
Glyn Edwards of Summit Therapeutics Discusses Endpoints of DMD Trials
Biglyca: An Emerging Therapy for Duchenne Muscular Dystrophy
The Importance of Advocacy Groups Such as the Fragile X Foundation
Duchenne Muscular Dystrophy
Rare Disease Diagnosis: Huntington’s Disease
Treatment Options for Myeloproliferative Neoplasms
Glyn Edwards of Summit Therapeutics Discusses Endpoints of DMD Trials
Biglyca: An Emerging Therapy for Duchenne Muscular Dystrophy
