BrightFocus Foundation
BrightFocus Foundation

Study of a Novel Genetic Risk Factor for Alzheimer's Disease

Principal Investigator

Giuseppina Tesco, MD, PhD

Giuseppina Tesco, MD, PhD

Tufts University
Boston, MA
Acknowledgement
Recipient, Alzheimer's Disease Research Distinguished Investigator Award

Project Goals

This study aims to determine the extent to which a novel genetic risk factor for Alzheimer’s disease drives changes in gene and protein expression in brains of mice like the ones observed in human Alzheimer’s brains.

Project Summary

Dr. Tesco’s lab recently found a novel genetic variant associated with late-onset Alzheimer’s disease in African American families, called GGA3 . Her research previously demonstrated that GGA3 plays a critical role in the transport and regulation of BACE1, a key enzyme responsible for amyloid-beta production. The study aims to determine how this novel genetic variant leads to Alzheimer's disease. Results may contribute to a better understanding of genetic risk factors in the African American population, which is currently understudied.

Publications

First published on: July 30, 2024

Last modified on: September 11, 2024