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Disease Mechanisms: Genetic data sharing (Milestone 2.G)


Timeline Start - End

2018 - 2024

Research Implementation Area

Research on Disease Mechanisms

Maximize the translational potential of genetics research by ensuring rapid and broad sharing of large-scale genetic/genomic data, similar to the open science, data sharing model of the AMP AD program and by supporting programs focused on:

  • Understanding the mechanisms by which genetic variants (including ApoE) discovered through GWAS and sequencing studies influence AD risk
  • Integrating genomic data with other multi-omics data from brain, peripheral tissues, and iPSC cellular models from well-phenotyped cohorts
  • Establishing the gene-basis and directionality for genetic variant association so gene networks can be annotated with causality as tools for drug discovery.

Success Criteria

  • Launch an open science research program focused on generating knowledge on the mechanisms by which genetic variants influence AD risk and the directionality for genetic variation association.  Develop gene networks that are annotated with causality as open source analytical tools for drug discovery.

Summary of Key Accomplishments

NIA is advancing the achievement of this milestone is in two major ways: by investing in genetics research aimed at resolving the complex genetics of AD, and by launching targeted initiatives aimed at understanding the mechanisms by which genetic variants influence AD risk and resilience. These programs support cutting-edge molecular and cellular biology research, as well as artificial intelligence methods. The Alzheimer’s Disease Sequencing Project Functional Genomics Consortium supports a team-science strategy and applies genome-wide approaches to discover and characterize functional genomic and epigenomic elements and elucidate and validate their roles and the mechanisms of action underpinning Alzheimer’s disease and related dementias (AD/ADRD).

The key accomplishments summary is current as of July 2022. 

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