Pramod K. Mistry, MD, PhD, FRCP

Pramod K. Mistry, MD, PhD, FRCP
Prof. of Pediatrics & Internal Medicine
Chief, Department of Pediatric GI/Hepatology
Yale University School of Medicine
PO Box 208064
333 Cedar Street; LMP 1080
New Haven, CT 06520
Phone: (203) 785-3412 or (203) 785-3497
Fax: (203) 785-7273

Dr. Mistry’s Early Career

Pramod K Mistry, MD, PhD, received his medical degree from University of London’s Royal Free Hospital School of Medicine. He did his post-graduate training in Cambridge, England.

Dr. Mistry’s Current Roles

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.

Positions and memberships Dr. Mistry holds include:

  • Member of the American Association for Study of the Liver, American Society of Human Genetics and the European Working Group on Gaucher Disease
  • Regional coordinator for the International Collaborative Gaucher Group (ICGG)
  • Medical advisory board member for the Gaucher Association (UK)
  • Medical advisory board chairman of the American Liver Foundation (Connecticut chapter)
  • Advisory committee member of the National Gaucher Foundation, Gaucher Association (UK) and The Children’s Fund for Glycogen Storage Disease Research

Dr. Mistry’s Research

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.

Families afflicted with rare inherited disease are severely underserved, having limited access to knowledgeable expert physicians and therapies. It is not uncommon for patients to have prolonged diagnostic odysseys while they suffer from severe complications. For the past two decades his advocacy work in this area includes playing a key role in building national centers of excellence in Gaucher disease in the United Kingdom and the United States, as well as humanitarian treatment programs for children with Gaucher disease in Egypt, China and India. He is also a senior member of the International Gaucher Disease Registry, the largest rare disease registry in the world.

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