We seek to understand the relationship between genetic variation and disease phenotype on a population scale. The phenotypes we focus on are complex human diseases whose genetic factors are multi-factorial and work in concert with a number of environmental forces. While linkage analysis is successful in studying highly penetrant Mendelian disorders, population-based association study, especially the ones performed at a genome-wide scale, has now been shown to be more effective at identifying common genetic risk factors for complex diseases - that rarely display obvious patterns of familial inheritance.  Using both hypothesis-driven investigation and genome-wide search, we are working towards identifying genes or genomic regions whose variations contribute to individuals’ predisposition to, or protection from, common diseases.

Beyond the identification of genetic risk factors, we are also interested in understanding the biological mechanisms that underlie genetic risk factors by pinpointing causal variants through fine-mapping analysis and characterizing the functional impact of causal variants using in-vitro and in-vivo model systems. We are also interested in knowing how these genetic risk variants interact with environmental and/or lifestyle risk factors to influence disease development. By developing new multi-variant tools for risk prediction and prognosis analysis, we are also actively pursuing translational research to investigate the impact of genetic risk factors on disease diagnosis, treatment and management.