Arndt Rolfs, MD, Chief Executive Officer of Centogene, discusses the challenges of diagnosing rare diseases. Dr. Rolfs tells the story of his early days of practicing medicine. While on vacation, he came across an article in the newspaper on a disease he had never heard of before.
Jeff Ajer, Executive Vice President and Chief Commercial Officer of BioMarin, discusses gene therapy. The development of these transformative therapies has triggered discussions about market access challenges, the viability of alternative financing mechanisms, and the results for patient access.
Peter Saltonstall, President and Chief Executive Officer of the National Organization for Rare Disorders (NORD) discusses some of the challenges facing the rare disease community, including the perception that drug pricing for orphan drugs is a driving force behind rising drug prices.
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, a progressive condition that affects most tissues and organs.
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of the mucopolysaccharidoses (MPSs) a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.