Michael E. Shy, MD, Director, Division of Neuromuscular Medicine, Neurology at the University of Iowa Health Care, discusses Natural History, Biomarkers, and Gene Identification during the Rare Disease Day at NIH 2019 on Thursday, February 28, 2019.
The U.S. Food and Drug Administration (FDA) granted PRM-151, a novel investigational anti-fibrotic immunomodulator, Breakthrough Therapy designation for Idiopathic Pulmonary Fibrosis (IPF).
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.
Becky Abbott, MPH is Manager of Treatment and Research at the National Foundation for Ectodermal Dysplasias (NFED) which provides comprehensive services to individuals affected by ectodermal dysplasias and their families. Ectodermal dysplasias (ED) are a group of more than 180 disorders that affect the outer layer of tissue of the …
Dean Suhr, President of the MLD Foundation, provides an overview of Metachromatic leukodystrophy (MLD) and an overview of his advoacy organization.
Dr. Collins began his talk by acknowledging that Rare Diseases are more relevant that ever with all of NIH’s 27 institutes and centers having some investment in rare disease research.