Dr. Mistry is the director of the National Gaucher Disease Treatment Center and professor of pediatrics and medicine at Yale School of Medicine. He is board-certified in internal medicine.

Dr. Mistry has authored numerous journal articles, book chapters and reviews on Gaucher disease. He has received several awards for his work on Gaucher disease, including:

• The Alan Gordon Memorial Award
• Physician of the year award from Genetic Disease Foundation of New York
• Fellowship of the Royal College of Physicians of London

Dr. Mistry’s research is focused on comprehensive delineation of Gaucher disease through phenotype annotation, genomic annotation, modifier gene discovery, biomarker discovery/validation and therapies. His lab developed the first authentic mouse model of Gaucher disease. The advances in understanding disease mechanisms in the Gaucher mouse model informed clinical research on biomarker validation, osteopenia and therapy. He runs a dedicated inherited metabolic liver disease clinic offering the entire range of therapies from small molecules, recombinant enzyme replacement, hepatocyte transplant and liver transplant.