Description of Research Expertise
I have been conducting human genomics research for over 20 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 cleft lip with or without palate, scoliosis, inflammatory bowel disease, autism, ADHD, head circumference, intracranial volume, myocardial infarction, pediatric eosinophilic esophagitis, type 1 diabetes, asthma, multiple sclerosis and neuroblastoma.

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 determination, early onset diabetes and cancer. 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.