2011 Grants - Cruchaga

Exome Sequencing of Late-Onset Alzheimer's Disease Families

Carlos Cruchaga, Ph.D.
Washington University in St. Louis
St. Louis, Missouri

2011 New Investigator Research Grant

Mutations in specific genes are known to cause some forms of early-onset Alzheimer's disease. These mutations are inherited, giving rise to families containing many individuals with the same form of disease. Other families have also been identified that appear to have inherited forms of late-onset Alzheimer's disease but in whom no genetic mutations have been identified. These observations suggest that other genetic mutations exist that have not been identified by scientists but that can cause Alzheimer's disease.

Carlos Cruchaga, Ph.D. and colleagues have proposed to search for other genetic mutations linked to late-onset Alzheimer's disease. The researchers will select three families known to have inherited forms of Alzheimer's disease but no identified genetic mutations. Using genetic material (DNA) from members of these families, they will perform DNA sequencing in an effort to identify genetic mutations that could be the cause of disease. The researchers will follow this research by narrowing down the number of suspect genes, and search for the presence of suspected genetic mutations in additional families. This research may identify genetic mutations linked to Alzheimer's disease that are currently unknown.