Description:

The Department of Biochemistry and Molecular Genetics Departmental Seminar Series presents:

Ralph J. DeBerardinis, MD, PhD
Investigator, Howard Hughes Medical Institute.
Professor, Children’s Medical Center Research Institute at UT Southwestern Medical Center
Robert L. Moody, Sr. Faculty Scholar
Joel B. Steinberg M.D. Chair in Pediatrics
Sowell Family Scholar in Medical Research
Director, Division of Pediatric Genetics and Metabolism
Director, Genetic and Metabolic Disease Program

Although many human diseases are characterized by altered metabolism, we generally do not understand how metabolic perturbations interfere with tissue homeostasis. To better understand these processes, we developed parallel clinical programs to study two kinds of metabolic disease: cancer and pediatric inborn errors of metabolism (IEMs). In cancer, we use intraoperative infusion of 13C-labeled nutrients during surgical tumor removal to directly assess metabolic flux in live human tumors in vivo. This approach has uncovered new concepts in cancer metabolism, and we are now using it to understand the basis of metabolic preferences in human tumors. In IEMs, we identify children from the clinic with rare metabolic phenotypes, then use genomics, metabolomics and functional studies to discover novel mutations in metabolic enzymes and to understand the basis of tissue dysfunction in these disorders. I will discuss how these patient-focused studies capitalize on the rich metabolic diversity in humans to maximize our opportunities for better diagnostic modalities and therapies.