Mistry, Pramod Kumar - Yale University - Biological & Biomedical Sciences

个人简介

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 and the first GWAS study in search for genetic modifiers of this extraordinary diverse Mendelian disease. 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 of the world suffering from Gaucher disease. MBBS Royal Free Hospital School of Medicine (1983) PhD St. Thomas' Hospital Medical School (1979) Fellow Addenbrooke's Hosptial, Cambridge Resident Royal Free Hospital, London Intern Royal Free Hospital, London Fellow Royal Free Hospital, London Board Certification AB of Internal Medicine, Internal Medicine (1999, recertified: 2015)

研究领域

China; Digestive System Diseases; Egypt; Gastroenterology; Gaucher Disease; Genotype; Glycogen Storage Disease Type I; India; Pediatrics; Phenotype; Physiology; Lysosomal Storage Diseases

近期论文

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Gaucher disease gene GBA functions in immune regulation. Liu J, Halene S, Yang M, Iqbal J, Yang R, Mehal WZ, Chuang WL, Jain D, Yuen T, Sun L, Zaidi M, Mistry PK. (2012 Gaucher disease gene GBA functions in immune regulation. Proc Natl Acad Sci U S A. Jun 4. [Epub ahead of print] PMID: 22665763 Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Mistry, P.K., et al., Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci U S A. 107(45): p. 19473-8. Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient. Yuen T, Iqbal J, Zhu LL, Sun L, Lin A, Zhao H, Liu J, Mistry PK, Zaidi M. (2012) Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice. Biochem Biophys Res Commun. 2012 May 12. [Epub ahead of print] PMID: 22588172 The risk of Parkinson's disease in type 1 Gaucher disease. Bultron, G., et al., The risk of Parkinson's disease in type 1 Gaucher disease. J Inherit Metab Dis. 33(2): p. 167-73. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Mistry, P.K., et al., A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol. 86(1): p. 110-5. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Taddei TH, Kacena, K.A., Yang, M., Yang, R., Malhotra, A. , Boxer, M., Aleck, K.A., Rennert, G., Pastores, G.M., Mistry, P.K. (2009) The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Hematol. 2009 Apr;84(4):208-14 Incidence of avascular necrosis in type 1 Gaucher disease: effect of enzyme replacement therapy. Mistry PK, Deegan PD, Vellodi A, Cole A, Yeh, M, Weinreb NJ (2009). Incidence of avascular necrosis in type 1 Gaucher disease: effect of enzyme replacement therapy. British J Hematology, in press Liver transplantation for inherited metabolic disorders of the liver. Moini M, Mistry P, Schilsky ML. Liver transplantation for inherited metabolic disorders of the liver. Curr Opin Organ Transplant. 2010 Jun;15(3):269-76. Cohen IJ, Baris H, Mistry PK: Treatment for LSDs: no longer just enzyme replacement therapy for Gaucher disease. Foreword. Pediatr Endocrinol Rev. 2013 Nov. PMID: 24380122