Finding Novel Variants in APP, PS1 and PS2, that alter Gene Functionality and Lead to Familial Alzheimer’s Disease

Authors

Matthew Cable-Fabiszak, Brigham Young University
Dr. John Kauwe, Brigham Young University

Keywords

APP, PS1, PS2, gene functionality, Alzheimer's disease, AD

College

Life Sciences

Department

Biology

Abstract

The planned objective of this mentored research opportunity was to identify families in the Cache County Aging Study that harbored mutations in three specific genes known to cause familial Alzheimer’s disease: APP, PS1, and PS2. This knowledge would have been beneficial because it would have provided important information concerning novel variation that causes disease as well as identify specific families who could be important resources for future studies of Alzheimer’s disease.

Recommended Citation

Cable-Fabiszak, Matthew and Kauwe, Dr. John (2014) "Finding Novel Variants in APP, PS1 and PS2, that alter Gene Functionality and Lead to Familial Alzheimer’s Disease," Journal of Undergraduate Research: Vol. 2014: Iss. 1, Article 737.
Available at: https://scholarsarchive.byu.edu/jur/vol2014/iss1/737