Description of Research Expertise

I have been conducting human genomics research for over 25 years. The highlights of my career are the discovery of the polymorphic Sp1 site in the COL1A1 gene and its association with osteoporosis, the identification of variation in the TCF7L2 gene playing a key role in conferring type 2 diabetes risk and providing leadership in an international genetics effort to characterize genes influencing birth weight and common childhood obesity risk. I have also previously played a role in uncovering genes involved in other traits, including inflammatory bowel disease, autism and type 1 diabetes.

As a primary faculty member in both the Departments of Genetics and Pediatrics, and as a Director of the Center for Spatial and Functional Genomics at the Children's Hospital of Philadelphia, my current work primarily involves investigating disease genomics with a specific focus on pediatrics. Utilizing high-throughput genotyping and sequencing technologies, combined with statistical and bioinformatic approaches, my goals include unraveling genomic puzzles related to childhood obesity, pediatric bone strength, diabetes and sleep. These phenotypes are known to be strongly determined by genetic factors; however, resolving genomic contributors to such complex phenotypes in adults has been impeded by interaction with strong environmental factors. Distillation of the genomic architecture in these complex traits should be easier to determine in children, where the relatively short period of their lifetime limits the impact of environmental exposure. Given the global prevalence of such diseases, prevention of these disorders and their serious complications must be addressed in order to reduce individual morbidity and the economic burden on society.

Funding as PI/MPI:
R01 HD056465, R01 HD100406, R01 AG072705, R01 AA030056, UM1 DK126194, Daniel B. Burke Endowed Chair for Diabetes Research
(Completed: R01 AG057516, R01 HL143790, R01 DK085212, R21 HD089824, R01 HD058886, R01 DK122586)

Active Funding as Co-investigator:
R01 NS135075, R01 AI154773, R01 AI146026, R01 AR076241, R01 DK097830, R01 DK056268, R01 EY023557, P01 HL160471, U01 DK135002

Current Research Team:
Winter S. Bruner, Catherine L. May, Matthew C. Pahl, Molly Ridler, Khanh B. Trang, Amber J. Zimmerman
GRADUATE STUDENTS: Max F. Dudek, Ekta B. Singh, Mary Ann Weidekamp

Former members: Mariana Argenziano, Keith Boehm, Jonathan P. Bradfield, Alessandra Chesi, Kieona Cook, K. Sonal R. Choudhary, Diana L. Cousminer, Sandra Deliard, Matthew E. Johnson, Vanessa C. Guy, Reza K. Hammond, Kenyaita M. Hodge, Brian T. Johnston, Chiara Lasconi, Michelle E. Leonard, Sumei Lu, Elisabetta Manduchi, Ursula W. Parlin, James A. Pippin, Shilpa Sonti, Chun Su, Nicholas A. Wachowski, Christina M. Volpe, Qianghua Xia, Jianhua Zhao
FORMER GRADUATE STUDENTS: Elizabeth A. Burton (Broad Institute), Mitchell Conery (Argonne National Laboratory), Sheridan H. Littleton (University of Cambridge), Rajashree Mishra (GSK)