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.