Deborah Blacker, M.D., Sc.D.
Massachusetts General Hospital
Charlestown, Massachusetts

2007 Investigator-Initiated Research Grant

Four genes have been firmly linked to Alzheimer’s disease. Mutations in three of them cause rare, inherited forms of the disease, while variants in the fourth have been found to increase the risk of getting the disease. Though scientists generally believe that other Alzheimer-linked genes will be found, progress has been slow.

Deborah Blacker, M.D., Sc.D., and colleagues believe that the study of quantifiable traits related to Alzheimer’s disease may offer a promising approach to the discovery of Alzheimer-linked genes. Analysis of neuropsychological test scores, which help measure the loss of cognitive function over time, may prove particularly effective. For this proposed grant, Dr. Blacker’s team will study neuropsychological test data from a large group of people with Alzheimer’s disease or mild cognitive impairment, a condition that may precede Alzheimer’s. The team will also conduct genetic analyses of the individuals in the group. Then, using a newly developed statistical method, they will look to identify genes that may be associated with cognitive loss over time.

Results of the study could lead to novel genetic therapies for Alzheimer’s disease. Moreover, the technique might be used with other quantifiable Alzheimer traits, including changes in brain size detected by magnetic resonance imaging scans.