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LBD: Understand LBD genetic, epigenetic, and environmental influences (Milestone 1.L)

In Progress

Timeline Start - End

2016 - 2027

Research Implementation Area

Population Studies and Precision Medicine

AD-Related Dementias Focus

Delineate genetic loci and their functions contributing to the onset and progression of LBDs using genetic, transcriptomic, epigenetic, and environmental characterization analyses.  

Success Criteria

  • At least 2 new projects to identify new genomic changes and environmental influences that impact LBD. 

  • Discover a molecular mechanism that links at least one novel genetic locus to the risk for developing LBD.

Summary of Key Accomplishments

Recently, NIA/NINDS intramural staff led an international effort to sequence the genomes from 2591 individuals with LBD, and identified two new sites in the genome that are associated with risk for LBD. They also looked at risk genes that LBD shares with Parkinson's and AD and found differences between these disorders in how the shared risk genes were expressed. Another group of researchers looked at the DNA found in blood from individuals with the two LBD subtypes (Dementia with Lewy Bodies (DLB) and Parkinson's Disease Dementia (PDD)) and found six locations where there were differences in how the DNA was externally modified. These changes were associated with worse cognitive symptoms in DLB and more REM behavior disorders in PDD, respectively.

The key accomplishments summary is current as of July 2022.  

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