Elucidating Sex Differences in Alzheimer's Disease Using Genetics

Alzheimer’s disease (AD) is a devastating multifactorial neurodegenerative disorder caused by interactions among multiple genetic and environmental factors. A major challenge of studying AD pathogenesis and developing and testing new drugs is the disease heterogeneity in both clinical phenotype and the underlying pathophysiology. Sex differences both play a significant role in disease risk and are a major source of disease heterogeneity in AD. Although the sex differences in the risk of AD, vulnerability to genetic load and severity of AD pathology burden have been well established, the molecular underpinnings and pathways that are differentially mediated in male and female AD patients are still poorly understood. The goal of this project is to analyze publicly available, large-scale genomic datasets of AD patients and age-matched controls to identify genomic regions that are associated with AD differentially in male and female patients and examine their interactive effects with apoE genotypes.

We would like to leverage GWAS and other sequencing efforts in AD to identify sex specific markers associated with the disease.