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Population Studies: Endophenotyping at-risk and resistant cohorts (Milestone 1.A)

In Progress

Timeline Start - End

2016 - 2024

Research Implementation Area

Population Studies and Precision Medicine

Enable precision medicine research by supporting deep and longitudinal molecular endophenotyping of existing and new at-risk cohorts as well cohorts and/or individuals who resist disease despite high genetic risk (e.g. Down Syndrome, ApoE 4 homozygous, FAD mutation carriers). Ensure that these efforts include and prioritize molecular profiling in cohorts from special populations and patients with atypical AD and ADRD (Down Syndrome, early- and late-onset familial AD, early-onset non-autosomal dominant AD), ethnic minorities and other under-represented groups.

Success Criteria

Initiate at least 6 research programs to support:

  • Longitudinal as well as postmortem collection and rapid distribution of biosamples from brain and peripheral tissues in existing and newly launched cohorts across diverse population groups.
  • Generation of high-quality, multi-omic data (genomic, epigenomic, proteomic, metabolomics, microbiome) as a public/community resource to maximize data accessibility and usability for downstream analyses.
  • Collection of non-traditional data modalities to complement the rich phenotypic clinical and molecular data, using wearable sensors and mobile health technologies.
  • High-quality data curation, annotation and data storage/big data infrastructure to ensure that the data are made broadly and rapidly available as a public resource according to FAIR data standards.

Summary of Key Accomplishments

Population studies are the foundation for precision medicine. Since 2016, NIA has supported more than 100 epidemiologic studies through two targeted funding initiatives. NIA supports additional cohort studies aimed at characterizing the risk and protective factors for AD/ADRD across different age groups.

NIA supports five longitudinal studies of aging/AD led by a multi-disciplinary team of investigators at the Rush AD Research Center, with one study focused exclusively on Latinos and two studies of mostly African American participants. The data collected in these cohorts is shared rapidly with the research community via the NIA-supported Rush AD Research Resource Sharing Hub.

Other large, deeply-phenotyped cohorts include: the AD Neuroimaging Initiative), the Longitudinal Early-Onset Alzheimer’s Disease Study, the Dominantly Inherited Alzheimer’s Network, and the Health and Aging Brain Study – Health Disparities.

Each of these studies focuses on participant engagement, longitudinal data collection, rigorous evaluation of AD biomarkers, biospecimen banking, and rapid sharing of data.

The key accomplishments summary is current as of July 2022. 

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