Hideki Garren, MD, PhD, global head of neuroimmunology at Roche discusses neuromyelitis optica spectrum disease (NMOSD).
Scott Schobel, MD, MSc, clinical science leader for Roche’s Huntington Disease Program, discusses RG6042, a RNA antisense drug that can reduce the synthesis of the Huntington protein and thereby, reduce its toxic effects in the brain.
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses some of the approved and emerging therapies for mucopolysaccharidoses (MPSs), a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.
Prof. Arndt Rolfs, MD, Chief Executive Officer at Centogene discuses the challenges of diagnosing rare diseases and how rare diseases need to be considered early in the diagnostic work up.
Daniel DeFabio discusses the Rare Disease Film Festival, a relatively new event showcasing films from around the world which address the challenges of life with a rare disease. The first event was held in Oct of 2017 in Boston, MA.