2010 Grants - Szigeti

Copy Number Variation GWA with Age at Onset of Alzheimer's Disease

Kinga Szigeti, M.D., Ph.D.
State University of New York at Buffalo
Buffalo, New York

2010 New Investigator Research Grant

Alzheimer's disease is a progressive disorder that often produces no clinical symptoms until irreversible brain damage occurs. Thus many research teams are searching for genetic Alzheimer biomarkers that can accurately target individuals at risk for the disease—or detect the disease at its earliest stages. The search for Alzheimer genes involves studying individual variants of minute DNA segments. These tiny segments, called copy number variants, can influence gene expression and can help reveal the location of Alzheimer genes in the human genome.

Kinga Szigeti, M.D., Ph.D., and colleagues propose to conduct an extensive search for copy number variants associated with the "age-at-onset" of Alzheimer's disease. Such variants may help determine when a person will acquire the disease. For this study, the team will work with another group called the Texas Alzheimer Research Consortium. Together, the two groups will use sophisticated computer techniques to assess thousands of copy number variants from 500 people with Alzheimer's disease and 100 cognitively healthy people. They will then identify individual variants that are most likely involved in the onset of Alzheimer's. Once these variants are selected, the team will verify the particular genes associated with the variants.

The results of this study could help identify novel genetic biomarkers for preventing or slowing Alzheimer progression. Such biomarkers could provide more effective and targeted Alzheimer therapies.