Research

Research

I am a physician scientist, with postgraduate training in internal medicine and human genetics. My lab in UT Southwestern's Eugene McDermott Center for Human Growth and Development, the home of basic human genetics basic research, focuses on disease gene discovery.

We identified a mutation in a hypothalamic transcription factor gene, SIM1, associated with early onset, morbid obesity, and we have created a number of transgenic mouse models to study the role of SIM1 in body weight regulation. Recently we identified the molecular basis of X-linked reticulate pigmentary disorder, a very rare cutaneous and immunologic disorder.

I am also very active in biomedical education and training. I have been a member of the steering committee or co-director of three Ph.D. graduate programs and personally mentored two M.D./Ph.D. students, three graduate students, two postdoctoral fellows, and one pediatric endocrinology fellow.

Since 2008 I have directed our Medical Scientist Training Program, and have been Dean of the UT Southwestern Graduate School of Biomedical Sciences since 2013. I was also Associate Director of our Mechanism of Disease and Translational Science Ph.D. track, supported by HHMI Med-Into-Grad and NIGMS Molecular Medicine T32 grants, and I currently direct the TL1 predoctoral training component of our CTSA. I served as a regular member of the NIGMS TWD-A (formerly BRT-A) study section from 2009–2013 and actively participate in the M.D./Ph.D. Section of the AAMC GREAT Group.