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Alzheimer's Disease Clinical-Genetic Study |
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This study draws on a unique community-based longitudinal cohort of 378 subjects who span the range of impairment between normal aging and mild Alzheimer's disease(AD). This research focuses on two key steps to find AD genes and to understand their impact.
- Investigate the relationship of amyloid deposition to memory impairment using Pittsburgh Compound B (PIB), a new imaging technique.
- Collect DNA samples for a complete a genome screen of the full cohort, and analyze using a set of optimal quantitative phenotypes. The hypothesis is that longitudinal quantitative phenotypes will provide greater power to detect AD genes than conventional affection status (AD vs. no AD) approaches.
Researcher: Dr. Deborah Blacker, M.D., Sc.D. Associate Professor of Psychiatry Harvard Medical School MassGeneral Institute for Neurodegenerative Disease
Dr. Blacker is a geriatric psychiatrist with a doctoral degree in genetic epidemiology, and serves as Director of the Gerontology Research Unit at Massachusetts General Hospital. Her primary work concerns the clinical and genetic epidemiology of Alzheimer's disease. She is extensively involved in efforts to locate genes that contribute to AD risk, including several different projects to collect, evaluate, and follow clinical samples for the study of AD genetics. She is the psychiatrist for the Massachusetts Alzheimer's Disease Research Center, where she helped to establish an AD Genetic Counseling Unit.
In parallel with her efforts to identify AD genes, she works with a group based at the Harvard School of Public Health to develop new methods for the genetic study of complex diseases, including family-based association tests and methods to estimate the magnitude of genetic risk. Last, she has recently become the principal investigator of a program project on the clinical, neuropsychological, and neuroimaging phenomenology of prodromal AD, and the genetic and environmental risk factors affecting the transition from mild memory difficulties to frank AD. |