Despite remarkable progress in biomedical research, little is known about the root causes that underlie individual risk of
common diseases. Disease is typically caused by the combination of multiple genes and non-genetic factors; in this setting,
traditional approaches of human genetics have met with limited success. By combining information from human and
population genetics, genomics and epidemiology we are searching for mutations contributing to common, polygenic
diseases, and applying these tools to discover root causes of type 2 diabetes and other disorders in the human population.
One major focus of the lab is to characterize human genome sequence variation. Most human genetic diversity is attributable to common single nucleotide polymorphisms (SNPs), and we have helped create a map that now contains the vast majority of common SNPs in human populations. We have characterized how these SNPs are distributed across the genome and among population, and the origin of these patterns in human history and recombination. We were deeply involved in the International Haplotype Map Consortium, and have contributed to study of copy number variation, the development of tools and methods for genome-wide SNP genotyping and statistical genetics methodologies to relate genotype and phenotype.
A second major focus is to apply these methods to understand type 2 diabetes and other diseases. Until recently these studies met with limited success, because the tools were not available to comprehensively search the genome. Last year we performed a whole genome association study in type 2 diabetes, identifying three novel loci for the disease. In the next year we anticipate a wealth of new clues about genes underlying diabetes and other common diseases, and pursuing these leads would make excellent projects for new graduate students.
Our long-term goal in identifying genetic risk factors is to understand how they contribute to human pathophysiology, and to apply such information to improve diagnosis, prevention, and treatment of disease.
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