Genomic Studies in Early Onset Alzheimer's Disease (EOAD)

 


   Note: An Official Proposal has not been Submitted to NACC.


   Lead Investigator:    Liana Apostolova
   Institution      :    Indiana University
   E-Mail           :    lapostol@iu.edu
   Proposal ID      :    1711



   Proposal Description:
   While pedigree analyses suggest that apparently sporadic EOAD is a highly heritable condition, recognized pathogenic mutations in APP, PSEN1 and PSEN2 are rarely identified in these subjects, and much of the measured heritability of EOAD remains unexplained even after accounting for APOE4. Few studies have amassed a large enough sample of sporadic EOAD to be sufficiently powered to identify new genes contributing to disease risk. Furthermore, next generation sequencing has rarely been applied to this population, yet is well suited to identify rare genes with large effects, recessive or de novo mutations and other more complex heritability patterns. We would like to explore the NACC cohort to initiate new gene discovery, which may lead to insights into novel disease mechanisms and pathways. Study Aim: To characterize genetic contributions to EOAD Hypothesis: Next generation sequencing will identify novel genes in sporadic EOAD involved in Abeta, tau, inflammation and lipid processing pathways.