I have been conducting human genetics research for over 10 years. The highlights of my career are the discovery of the polymorphic Sp1 site in the COL1A1 gene and its association with osteoporosis, and the identification of variation in the TCF7L2 gene playing a role in more than 20 percent of type 2 diabetes cases. I have achieved these findings by working with key populations around the world that provide a unique insight into how to isolate human disease genes.
My current work continues to primarily focus on metabolic disease, with a specific focus on pediatrics. Utilizing high-throughput genotyping technology, my goals include isolating genes involved in childhood obesity and pediatric bone strength determination. Both of these phenotypes are known to be strongly determined by genetic factors; however, the isolation of genes in these complex phenotypes in adults has been impeded by interaction with strong environmental factors. Distillation of the genetic component 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 obesity and osteoporosis, prevention of these disorders and their serious complications must be addressed in order to reduce individual morbidity and the economic burden on society.