Genetics of TDP-43 proteinopathy

 


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


   Lead Investigator:    Hyun-Sik Yang
   Institution      :    Brigham and Women's Hospital / Massachusetts Gener
   E-Mail           :    hyang18@bwh.harvard.edu
   Proposal ID      :    1725



   Proposal Description:
   TDP-43 proteinopathy is common in older adults without FTLD or ALS, but its genetic architecture is poorly understood. Here, we propose the following aims to assess genetic architecture of TDP-43 proteinopathy in older adults (LATE-NC).    Aim 1. Determine genome-wide genetic architecture of TDP-43 proteinopathy in older adults.    Aim 2. Examine genetic overlap among AD, FTLD-TDP, and LATE-NC.  The results from this project will guide our understanding of LATE-NC pathophysiology, and lay a foundation for ante-mortem biomarker and treatment target discovery.