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Genome Wide Association Studies in Ischemic Stroke and Ischemic White Matter Disease

Paul A. Nyquist MD/MPH
This talk outlines a successful use of a genome wide association study (GWAS) involving collaboration with large international consortia. I will outline the history of the use of GWAS to identify candidate genes, study biological systems and then incorporate these findings into drug discovery. The present study explored the individual genetic architecture unique to both dementia and stroke for the first time identifying 33 candidate genes. These genes characterize pathways in biological systems that affect the brains response to chronic injury in the setting of small vessel disease. These genetic loci represent potential drug targets for prevention or treatment of dementia, stroke and other forms of brain injury related to ischemia. It is my research goal to further characterize their biological activity using a systems biology. This is the future of reverse translation and identifying new drug targets within affected populations particularly in complex disease.