The mission of the Center is to capitalize on the abundance of Single Nucleotide Polymorphisms (SNPs) recently discovered in the human genome to advance our understanding of the molecular causes of disease and of differences among individuals in response to drugs and other therapies. Some of these SNPs are likely to affect gene and protein function. However, it is a great challenge to discover which variants among the millions present in the human genome are most important clinically, and so high-throughput assays are being developed and optimized to accelerate this research.

The Center will employ advanced computational and bioinformatics tools and databases for the full range of project management including SNP selection and the acquisition and tracking of clinical, demographic, risk factor and biospecimen data. SNP genotypes will be assayed using advanced robotic systems and high-throughput detection systems capable of characterizing over 100,000 SNP genotypes per day. Center staff will also have advanced knowledge and experience in the complex, multivariate statistical genetic analyses required to fully utilize these data and available to assist collaborators with study design.

Collaborations are under development with academic and private sector clinicians and basic scientists including a wide range of diseases. Initial studies will be focused on head and neck cancer, periodontal disease, the birth defect cleft lip and palate, and the pharmacogenomics of pain perception and drug responses. Collaborators will include both academic and industry partners. In addition to studies of disease, technology development will also be undertaken in order to increase the speed and efficiency of SNP genotyping while retaining accuracy and lowering cost.