Relating AD Brain Morphology to AD Genotype


The Massachusetts Alzheimer’s Disease Center has collected approximately 800 brain samples, providing an extraordinary resource for clinical-pathological correlations for Alzheimer’s disease and other dementias.
This research project involves comparing quantitative phenotypes to genetic markers. In earlier studies, these brain samples were used to study the consequences of inheritance of apolipoprotein E-ε4, and of the ubiquilin 1 risk alleles (described by Dr. Rudolph Tanzi). This research will use 500K chips to do a total genome scan, and also utilize the quantitative phenotypes noted above. Such an analysis will give us a window on discovering new genes that impact the rates of progression of patients, the amount of amyloid buildup and deposition, the formation of neurofibrillary tangles, and the amount of neuronal loss.
The research will give us an outstanding pilot data set to test the hypothesis that genetic variations can impact the amount of “reserve” that individuals have against the disease process, and also evaluate genetic influences on rate of progression, amyloid generation, and amyloid deposition.

Funding to Date



Foundational, Genetic Risk Factors


Bradley T. Hyman, M.D., Ph.D.

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