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

I was born in Kenya and grew up in England. I received my medical degree from the University of London’s Royal Free Hospital School of Medicine and did my post-graduate training in Cambridge, England. I majored in Biochemistry, and for my PhD project, I focused on the effects of dietary cholesterol on LDL receptor activity in healthy individuals. Research from the Brown and Goldstein lab deeply inspired me, which set me on the path to a career as a physician/scientist doing translational research.

My clinical, research and educational activities center around inherited metabolic liver diseases with a focus on Gaucher disease.

Yale University 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/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 (the way in which a disease or disorder develops) and new therapeutic targets for common diseases.

I am proud of the opportunity to serve this patient population through my membership on the advisory boards of the National Gaucher Foundation (USA) and Project Hope's Humanitarian Program for children with Gaucher disease in under-resourced populations.

The patient is at the center of all that I do. With this philosophy, my team and I are dedicated to providing patient-focused, life-long, holistic care through science-based, cutting-edge therapies applied by the most advanced technologies in the world.

I believe in lovingly taking the time to listen to and understand my patients. By doing so, I can capture all the information they give me, and we can get to the root cause and fix it.

Education and 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)

●   Intern - Royal Free Hospital, London

●   Fellow -  Royal Free Hospital, London.