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.
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.
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.
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.
Ron Philip, Chief Commercial Officer of Spark Therapeutics, discusses biallelic RPE65 mutation-associated retinal dystrophy, a rare retinal disorder.