Genetics of Alzheimer's Disease and Endophenotypes - Nilufer Ertekin-Taner

Overview

The main goal of our lab is to elucidate the complex genetics of Alzheimer's disease (AD) by discovery and characterization of genetic factors that influence its risk and modulate biological quantitative phenotypes (endophenotypes), such as gene expression levels and cognition. AD is the most common form of dementia affecting greater than 35 million individuals worldwide and is characterized primarily by memory decline as well as impairment in other cognitive areas, including language, executive function and visuospatial abilities.

Pathologically, it is characterized by senile plaques composed predominantly of extracellular accumulation of the amyloid β (Aβ) peptide, which is processed from amyloid precursor protein and neurofibrillary tangles, which is formed by intracellular accumulation of the abnormally hyperphosphorylated microtubule associated protein, tau.

Without effective therapies, the number of AD patients is expected to exceed 115 million by the year 2050. It is clear that development of effective therapies for a disease requires a thorough understanding of its pathophysiology, risk and protective factors.

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