# Genomic sequencing to establish a macaque genotype and phenotype research resource

> **NIH NIH R24** · OREGON HEALTH & SCIENCE UNIVERSITY · 2020 · $853,754

## Abstract

PROJECT SUMMARY
This R24 application addresses NIH priorities to expand genetic analysis of nonhuman primate (NHP) colonies,
to make the resulting genomic variant data publically accessible, and to promote NHP model discovery. These
goals reflect the urgent need for the identification of genetically appropriate, large-animal models to support the
development of precision medicine approaches, including gene or cell-based therapies, for the treatment of
human disease. In that regard, NHPs, especially rhesus macaques, have emerged as a premier pre-clinical
model, owing to their similar genetic content, physiology and anatomy, particularly the uniquely similar eye, ear
and brain structures important for the treatment of neurodegenerative disease and sensory impairment. We
have shown that rhesus macaques carry thousands of variants that are either identical to human pathogenic
alleles associated with genetic disease, or are predicted to be functionally damaging and likely contributing to
disease. This R24 research resource will efficiently identify such predicted pathogenic variants, by sequencing
the genomes of prolific breeders that together produced more than 4,200 of the macaques currently living in
three large, NIH supported rhesus macaque breeding colonies. By including multiple breeding centers in this
study, there are increased opportunities to identify rare sequence variants, and if needed, to establish breeding
programs to propagate critical disease models. By working with veterinary specialists, investigators and
clinicians to characterize the most urgently needed disease models, we will continue to identify new naturally
occurring NHP genetic models that can be utilized for the study and treatment of human diseases associated
with hearing impairment, blindness, neurodegeneration or developmental disorders, among others. All of the
genome sequences, variants and model data generated by this project will be made available through our web-
accessible, macaque Genotype And Phenotype (mGAP) research resource, the only public resource to provide
individual-linked genotype data for rhesus macaques housed at the NIH National Primate Research Centers
(NPRCs). mGAP has already attracted use by a broad range of investigators and clinicians. In addition to
deploying new mGAP functions, variants and macaque annotations, we will also analyze and host rhesus
macaque genomic data sets produced by other NIH-funded studies. Accordingly, mGAP will continue to serve
as a central resource for sharing genomic variant data on rhesus macaques housed at NPRCs nationwide,
supporting advanced genetic management of NIH rhesus macaque colonies, and expanding opportunities for
the development of new medical treatments to prevent or alleviate human disease.

## Key facts

- **NIH application ID:** 9933425
- **Project number:** 2R24OD021324-05
- **Recipient organization:** OREGON HEALTH & SCIENCE UNIVERSITY
- **Principal Investigator:** BETSY M FERGUSON
- **Activity code:** R24 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $853,754
- **Award type:** 2
- **Project period:** 2016-07-01 → 2024-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9933425

## Citation

> US National Institutes of Health, RePORTER application 9933425, Genomic sequencing to establish a macaque genotype and phenotype research resource (2R24OD021324-05). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/9933425. Licensed CC0.

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