Changing the Lives of Patients with Rare Diseases

Mount Sinai’s Department of Genetics and Genomic Sciences has a long-standing history of pioneering treatments for rare diseases, bringing therapies from the lab to patients who previously had no options. Researchers such as Robert Desnick, PhD, MD, Edward Schuchman, PhD, and Yiannis Ioannou, PhD have made significant breakthroughs in treating lysosomal storage disorders, including Fabry disease and acid sphingomyelinase deficiency (ASMD). Their work has led to the development of life-saving enzyme replacement therapies and the repurposing of drugs for genetic disorders, greatly improving patients' quality of life.

Ongoing efforts include developing novel compounds for neurodegenerative diseases like Niemann-Pick type C and potential antiviral therapies that could be crucial in future pandemics. These innovations underscore Mount Sinai’s commitment to translating cutting-edge research into real-world solutions for rare and challenging diseases.