Pramod Mistry

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.