Pramod Mistry, MBBS, PhD, MA, MD
Professor of Medicine (Digestive Diseases) and of Pediatrics (Gastroenterology)Cards
About
Titles
Professor of Medicine (Digestive Diseases) and of Pediatrics (Gastroenterology)
Professor of Cellular & Molecular Physiology; Director of Yale Lysosomal Disease Center and Gaucher Disease Treatment Center
Biography
I was born in Kenya and grew up in England. At College I majored in Biochemistry and for my PhD project, I focused on effects of dietary cholesterol on LDL receptor activity in healthy individuals. I was deeply inspired by the research from Brown and Goldstein lab, that set me on path to a career as a physician/scientist doing translational research. My clinical, research and educational activities center around inherited metabolic liver diseases and in particular on Gaucher disease. Yale has provided me with a rich environment to develop a nationally recognized clinical program for Gaucher disease and exciting collaborations that have led to the first authentic conditional KO mouse model of Gaucher disease, first GWAS/WES studies and delineation of metabolic inflammation and neuroinflammation in search for genetic modifiers of this extraordinarily diverse Mendelian disease. In addition, these studies have informed disease pathogenesis and new therapeutic targets for common diseases. I am proud for the opportunity to serve this patient population through membership of the advisory boards of National Gaucher Foundation (USA) and Project Hope's Humanitarian Program for children with Gaucher disease in under-resourced populations.
Appointments
Digestive Diseases
ProfessorPrimary
Other Departments & Organizations
Education & Training
- MD
- University of the State of New York, MD Conferral by the Board of Regents (2015)
- MA
- Yale University, Yale Privatim (2007)
- Fellow
- Addenbrooke's Hospital, Cambridge (1994)
- Resident
- Royal Free Hospital, London (1989)
- MBBS
- Royal Free Hospital School of Medicine (1983)
- PhD
- St. Thomas' Hospital Medical School (1979)
- Fellow
- Royal Free Hospital, London
- Intern
- Royal Free Hospital, London
Research
Overview
We have focused on deep clinical phenotyping of patients as the foundation of genomic, biomarker and modifier gene studies in Gaucher disease. This approach has also allowed forumating key research questions tgo the lab and out extensive collection of mouse models. In this way, our program represents iterative bedside to bench and back to bench research program that makes incremental improvement in patient care and outcomes. We collaborate with international colleagues to decipher global patterns of disease, genotypes, phenotypes and natural history. Our in- house Registry and International Collaborative Gaucher Registry has propelled and validated numerous basic mechanistic findings derived from our lab studies using cells and mouse models. In the clinic, we are a site for clinical trials of recombinant enzyme replacement therapy and small molecule therapy. Pre-clinical studies on gene editing therapy are in progress.
Gaucher disease shows extraordinary phenotypic varaiabilty even among affected sib-pairs and among patients with identical genotypes. We are examining several candidate genes in glycosphingolipid metabolic pathways and in pro-inflammatory pathways as potential modifier genes. We are also applying several genomic approaches (WES, WGS, scRNAseq snRNAseq) for identification of modifier genes. Discovery of modifier genes will impact on patient management through more accurate prediction of prognosis and enable pre-emptive therapy of those at highest risk.
Rare Gaucher disease is also illuminating common diseases such as B cell malignancies, hepatocellular carcinoma and Parkinson disease. Patient with Gaucher disease are at high risk of these complications and interestingly even heterozygote carriers of GBA mutations are at increased risk of Parkinson disease. We are actively studying these links and researching into underlying mechanisms.
Our clinical translational model developed for Gaucher disease is applicable for a range of inborn errors of metabolism affecting the liver such as Glycogen Storage disease type 1a, porphyrias, Wilson disease, alpha 1 antitrypsin deficiency and hemochromatosis.
Medical Research Interests
Academic Achievements & Community Involvement
Clinical Care
Overview
Pramod K. Mistry, MBBS, PhD, FRCP, FAASLD, cares for adults and children with inherited metabolic liver diseases. He has a particular interest in Gaucher disease, an inherited disorder in which fatty substances build up in certain organs. In addition to his clinical work, Dr. Mistry is director of the Yale Lysosomal Disease Center and the internationally recognized Gaucher Disease Treatment Center.
Dr. Mistry, who was born in Kenya and grew up in England, has additional clinical interests in such areas as liver disorders of lipid metabolism (such as Neimann Pick disease, cholesterol ester storage disease), alpha 1 antitrypsin deficiency, porphyrias, and undiagnosed liver diseases in the younger patients. Since 2001, he has played a key role in helping to establish Yale Medicine’s adult and pediatric liver transplant programs.
At Yale School of Medicine, he is a professor of both medicine (digestive diseases) and of pediatrics (gastroenterology), and of cellular and molecular physiology. “My research is focused on the discovery of novel treatments and mechanisms of genetic liver diseases, and developing biomarkers to monitor patients,” he says.
He has published extensively in top-rated journals and led numerous international clinical trials for treatment of rare diseases.
Clinical Specialties
Fact Sheets
Gaucher Disease
Learn More on Yale MedicineAlcohol-related Liver Disease
Learn More on Yale MedicineFace Transplant
Learn More on Yale MedicineLiver Transplant
Learn More on Yale Medicine
Yale Medicine News
News & Links
Media
- Germline KO of Gaucher disease gene is lethal. We developed conditional KO model LoxP-GBA-LoxP/Mx1Cre to induce GBA gene deletion after birth in hematopoietic and mesenchymal cells.
News
- March 21, 2025Source: Yale Medicine
Gaucher Disease: A Rare Disease Sheds Light on More Common Conditions
- June 03, 2024
Meet Glenn Belinsky, Research Associate, Digestive Diseases
- May 12, 2023
Yale Program Accepted Into NORD Rare Diseases Centers of Excellence Network
- November 28, 2022
Thirty Years of Humanitarian Aid for People with Rare Diseases
Get In Touch
Contacts
Yale School of Medicine
Department of Medicine (Digestive Diseases), PO Box 208019
New Haven, CT 06520-8019
United States
Administrative Support
Locations
Patient Care Locations
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