Director of Yale Lysosomal Disease Center and Gaucher Disease Treatment Center.
Professor of Medicine (Digestive Diseases) and of Pediatrics (Gastroenterology). Professor of Cellular & Molecular Physiology, USA
I was born in Kenya and grew up in England. At College, I majored in Biochemistry and for my PhD project, I focused on the 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 the path to a career as a physician/scientist doing translational research. My clinical, research and educational activities centre 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.