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
Approximately one-quarter of admissions to pediatric hospitals result from conditions with a genetic basis. Although most of these conditions are rare, they collectively account for a disproportionate amount of illness and death in children, particularly in the developed world. Many disease genes have been defined, but there are many more conditions for which the molecular basis is unknown, and more still where a lack of mechanistic insight has severely limited the opportunity for therapy.
The goal of CRI’s Genetic and Metabolic Disease Program is to better understand the biological basis of childhood genetic diseases and to improve therapy. A particular focus is on diseases that impact metabolism, which account for the largest subset of known genetic disorders, and which have been successfully treated when molecular mechanisms have been identified.
The program contains an outstanding infrastructure for genomic and metabolomic analysis of samples derived from cellular and animal models, as well as from humans. It is also closely aligned with the clinical Division of Genetics and Metabolism at Children’s Medical Center of Dallas, providing streamlined opportunities for translational studies.