Whole Exome Sequencing in Alzheimer Disease

Margaret A Pericak-Vance, PhD University of Miami

Co-Principal Investigators

Stephan A Zuchner, MD, PhD University of Miami


The proposed research will look for rare variants in AD in a unique set of large multigenerational AD families that have been followed by our group for over 25 years. Together with ongoing efforts of ours and others to identify common AD risk variants the whole exome approach outlined in this proposal will afford us the best chance to understand the genetic causes of AD and to determine the functional role of the genes underlying this risk.

Project Details

There are a number of genes that are associated with Alzheimer’s disease, but there are many more yet to be discovered. In this proposed project, Drs. Margaret Pericak‐Vance, Stephan Zuchner, and colleagues will study large families with Alzheimer’s, to increase the chances of discovering a strong genetic risk of developing this disease. These researchers will use new gene reading techniques to look at the “whole exome” (or the DNA spelling of the most‐used books in a person’s genetic library) to filter out a small set of candidates. These candidates will then be double‐checked by confirming their identities in the DNA from other groups of people with Alzheimer’s. Knowing the identity of Alzheimer’s genes could aid with initial diagnoses and lead to future preventions and treatments.