# Whole Genome Sequencing in Ethnically Diverse Cohorts for the ADSP Follow-Up Study (FUS)

> **NIH NIH U01** · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · 2020 · $5,035,799

## Abstract

PROJECT SUMMARY
 The Alzheimer’s Disease Sequencing Project (ADSP) is a national sequencing initiative focused on
identifying genetic risk and protective factors for Alzheimer’s Disease (AD) in an effort to identify new pathways
for prevention and new targets for drug development. The projects’ discovery phase included whole exome
sequencing (WES) of 10,914 unrelated cases (N=5,778) and controls (N=5,136) and whole genome sequencing
(WGS) of 1,019 familial samples. A majority of these samples are non-Hispanic white (NHW) in origin, making
the addition of ethnically diverse samples to the study critical to identification of both shared and novel genetic
risk factors for AD between populations. This ethnic diversity was emphasized in the ‘ADSP Follow-Up Study
(FUS) Phase’ planning stage with a directive that additional existing cohorts with unrelated AD cases that
‘encompass the richest possible ethnic diversity’ be given the highest priority for inclusion.
 To fulfill the goals of this RFA and this FUS Phase Mandate, this proposal identifies seven existing elderly
cohorts of African-American (AA) and pan-HI ancestry with a total of 10,430 samples (N=2,322 AA AD cases
and 1,843 AA controls and 2,928 Hispanic AD cases and 2,875 Hispanic controls) for WGS and processing in
collaboration with existing NIH-funded AD infrastructure. Combining these cohorts with existing African America
(AA) and Hispanic (HI) sequencing from the Washington Heights-Hamilton Heights-Inwood Community Aging
Project (WHICAP), the Alzheimer’s Disease Genetics Consortium (ADGC) and the ADSP will provide large
ethnically diverse datasets for both validation of ADSP discovery phase findings and discovery of novel risk
and/or protective variants for AD. Importantly, these data will allow for admixture mapping, a powerful method of
gene mapping for diseases that show differential risk by ancestry, by comparing allele frequency differences
between populations. They will also become an invaluable resource for the AD research community at-large,
and will help to address the health disparities that contribute to AA and HI populations having higher rates of AD
than NHW. Thus, we will address these important issues by creating a large dataset of AA and pan-HI AD cases
and controls for study.
 Specifically we propose to: 1) increase the ethnic diversity of the ADSP by assembling samples from
existing cohorts with AA and HI AD cases and controls; 2) collaborate with the National Cell Repository for
Alzheimer’s Disease (NCRAD) in assemblage, storage, and distribution of DNA on these cohorts; 3) generating
genome-wide SNP array data and WGS for all collected samples; and 4) collaborate with the NIA Genetics of
Alzheimer’s Disease Data Storage Site (NIAGADS) and The Genome Center for Alzheimer’s Disease (GCAD)
in processing, quality controls, storage and distribution of the final datasets. Our overall goal is to enhance the
discovery of AD risk factors by facilitating research on AD in ethnic...

## Key facts

- **NIH application ID:** 9989742
- **Project number:** 5U01AG057659-04
- **Recipient organization:** UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
- **Principal Investigator:** RICHARD P MAYEUX
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $5,035,799
- **Award type:** 5
- **Project period:** 2017-09-30 → 2022-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9989742

## Citation

> US National Institutes of Health, RePORTER application 9989742, Whole Genome Sequencing in Ethnically Diverse Cohorts for the ADSP Follow-Up Study (FUS) (5U01AG057659-04). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/9989742. Licensed CC0.

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