Associate Professor, Pediatrics

Associate Professor, Eugene McDermott
Center for Human Growth and Development

Director, Division of Pediatric Genetics and Metabolism

Director, Children's Research Institute
Genetic and Metabolic Disease Program

Joel B. Steinberg, M.D. Chair in Pediatrics

Sowell Family Scholar in Medical Research

Curriculum Vitae

I am a pediatrician and a medical geneticist. At Children’s Medical Center, I diagnose and treat children with inborn errors of metabolism, rare inherited diseases that impair the ability to derive energy from sugars, amino acids, and fats. Over the years, it has become increasingly apparent that cancer and other common diseases are also caused by perturbations in metabolism at the cellular level.  My laboratory studies how metabolism is regulated in these diseases, particularly cancer. To this end, we have developed techniques to analyze metabolic pathways precisely, in cells, mice and other model organisms, and in human cancer patients. This has led to the discovery of a number of metabolic pathways that allow cancer cells to grow within aggressive tumors, and of completely new pathways that escaped notice despite more than a century of research in metabolism.

Overall, the goals of my laboratory are to identify metabolic disturbances in cancer and other diseases,
to understand how those disturbances interfere with normal cellular function, to develop new diagnostic methods to monitor them in patients, and to design new therapies to restore normal metabolism and improve health.