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Despite great progress in medical science, we have limited knowledge of the molecular causes of disease in human populations; this ignorance is one of the gating factors in efforts to design rationale approaches to prevent and treat disease. Family history is a strong and largely unexplained contributor to essentially all human diseases, and genetic mapping offers an approach to study disease that is unbiased by prior hypotheses about disease mechanisms.
We have worked to make possible genetic mapping of common diseases by developing maps of human sequence variation (the SNP Consortium HapMap, and 1000 Genomes Projects), and by developing technologies and analytical methods to enable genome-wide association studies. In the past three years these methods have led to the identification of over 250 novel and reproducible SNP associations for a wide variety of common diseases, including our own work on type 2 diabetes, hyperlipidemia, prostate cancer, age related macular degeneration, rheumatoid arthritis, and systemic lupus erythematosis.
We are now focusing on discovering the genes and mutations responsible at each locus, extending the mapping approach to query all genetic variation (not only common variants), and using this information to gain new insights into disease mechanisms, with the ultimate goal of developing new targets for therapeutic intervention and disease prevention.
1. To review recent progress in human genetics.
2. To consider the uses of genetic information in drug discovery.
3. To consider the uses of genetic information in medicine.