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2015 Grants - Roussos
Dissecting the Cis Regulation of Gene Expression in Alzheimer's Disease
Panagiotis Roussos, M.D., Ph.D.
Icahn School of Medicine at Mount Sinai
New York, New York
2015 New Investigator Research Grant
Do variations in regulatory regions of DNA affect one’s genetic risk for developing Alzheimer’s disease?
An important focus of Alzheimer’s research is discovering genetic factors that increase the risk of developing the disease. Deoxyribonucleic acid (DNA) is a component of cells that contains the specific genetic information (genes) needed for any living organism to develop and function. Certain portions of DNA provide the genetic code, or “blueprint,” for making proteins in the body. Other portions of the DNA however, do not directly code for proteins, but instead regulate which genes will be turned “on” or “off”. These regulatory regions have recently been linked to brain changes associated with Alzheimer’s disease. While recent studies suggest that genetic factors linked to Alzheimer’s risk are located in these regulatory regions, scientists do not yet know precisely “where” in the DNA these regions are located or how they may promote disease development.
For their current grant, Panagiotis Roussos, M.D., Ph.D., and colleagues plan to create detailed “maps” of the regulatory regions that turn genes on and off and determine if certain variations in these regions are associated with Alzheimer’s disease. These maps will be devised by analyzing different types of cells from the brain tissue of people who had Alzheimer’s disease versus those who were cognitively healthy. After the regulatory regions are identified and mapped, the researchers will isolate specific changes within the regions that may be linked to increased risk for developing Alzheimer’s.
The results of this study could shed new light on how changes to the regulatory regions of DNA may affect one’s risk of Alzheimer’s disease and other dementias. The “genetic map” created by the researchers can then be shared for use in other research studies. Ultimately, these findings could lead to the development of novel genetic therapies and diagnostic techniques for Alzheimer’s disease.