ChallengesExperts share their insights in diagnosing and managing rare conditions
- Usher Syndrome Overview
Daniel de Boer, Founder and CEO of ProQR, discussuses Usher syndrome, a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa.
- The Challenges of Diagnosing Primary Biliary Cholangitis
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.
- Michael E. Shy, MD: Natural History, Biomarkers, and Gene Identification
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.
- Breakthrough Designation for Idiopathic Pulmonary Fibrosis Therapy
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).
- 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.
- Ectodermal Dysplasias
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 embryo (ectoderm) that helps make up the skin, sweat glands, hair, teeth, and nails. Symptoms of ED can range from mild to severe and may include teeth abnormalities; brittle, sparse or absent hair; abnormal fingernails.
- Metachromatic Leukodystrophy and the MLD Foundation
Dean Suhr, President of the MLD Foundation, provides an overview of Metachromatic leukodystrophy (MLD) and an overview of his advoacy organization.
- NIH Director Francis Collins Talks About Rare Disease Day
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.
- James C. Greenwood, President of the Biotechnology Innovation Organization (BIO)
James C. Greenwood is President and CEO of the Biotechnology Innovation Organization (BIO) in Washington, DC. BIO represents 1,000 biotechnology companies, academic institutions, state biotechnology centers, and related organizations across the United States and in more than 30 countries worldwide.
- Autism Spectrum Disorder
Armando Anido, Chief Executive Officer at Zynerba Pharmaceuticals discusses Autism Spectrum Disorder (ASD), a developmental disorder that affects communication and behavior. Zynerba is pursuing new therapeutic options for ASD and other neuropsychiatric conditions.