Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses some of the typical physician features across all subtypes of ,mucopolysaccharidoses (MPSs), a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.
Peter Saltonstall, President and Chief Executive Officer of the National Organization for Rare Disorders (NORD), discusses his organization’s position on the Orphan Drug Act.
The FDA has granted orphan drug status and a rare pediatric disease designation to Denali Therapeutics pipeline candidate, DNL310.
Rare Disease International (RDI) is a global alliance of rare disease patient organizations designed to be an international voice for the rare disease community. One of its key initiatives is to include rare diseases in the Universal Health Coverage being developed by the United Nations (UN) for the year 2030.
The U.S. Food and Drug Administration (FDA) has granted Fast Track designation to a novel one-time AAV9 gene therapy for CLN1 disease.
Heather A. Lau, MD, Assistant Professor, Department of Neurology; Associate Director, Division of Neurogenetics; Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of Mucopolysaccharidosis type IV (MPS IV) or Morquio disease.