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Activity Number: 540
Type: Contributed
Date/Time: Wednesday, August 12, 2015 : 10:30 AM to 12:20 PM
Sponsor: Section on Statistics in Epidemiology
Abstract #316666
Title: From GWAS to Possible Therapeutic: The Story of a Prevalent Neurodegenerative Disease
Author(s): David Fardo* and Pete Nelson
Companies: University of Kentucky and University of Kentucky
Keywords: eqtl ; alzheimer's disease ; dementia ; GWAS

Genome-wide association studies (GWAS) have greatly augmented the number of genes that are replicably-associated with disease risk. While these findings span genes with varying functions across many disease phenotypes, still it is extremely difficult to translate a finding of genetic association with disease to a therapeutic intervention. In fact, many well-known "disease genes" have yet to have their functional influence exploited for the benefit of public health (e.g. APOE in Alzheimer's disease).

Mindful of the goal of translating genomic experimental data into progress in public health improvement, here we detail results and follow-up from our recent GWAS of hippocampal sclerosis of aging (HS-Aging). HS-Aging is an under-appreciated but prevalent disease in the elderly. Remarkably, the primary GWAS hit, ABCC9, was replicated in a separate group of research subjects, and, this is a potentially druggable target. We outline here downstream research including eQTL analyses and the development of the first preclinical model of HS-Aging based on the GWAS results.

Authors who are presenting talks have a * after their name.

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