# Novel Model Systems for the Study of Cone Disorders and Other Heritable Retinal Diseases

> **NIH NIH U24** · BAYLOR COLLEGE OF MEDICINE · 2020 · $393,484

## Abstract

Abstract
We propose to leverage our existing biobank of nonhuman primate (NHP) DNA samples to
extend our effort to identify potential NHP models for human Alzheimer's disease (AD) and
Alzheimer's disease-related dementias (ADRD) through while exome sequencing (WES). This
is in response to NOT-AG-20-008. Progress in this pilot project has the potential to rapidly build
a significant resource that will facilitate further investigation of AD disease mechanisms as well
as accelerate developments related to new treatments. Building on our existing DNA biobank, it
is straightforward and cost-effective to extend our current study and build a novel resource for
AD/ADRD by performing mutation screening across genes associated with AD/ADRD using
WES. Indeed, in our preliminary analysis on a small set of individuals for which we have whole
genome sequence data, we found individuals carrying pathogenic mutations in the known
human AD gene MAPT. Therefore, the macaque model represents a golden but currently
untapped opportunity for innovative research. It is feasible and cost-effective to leverage the
existing infrastructure to generate a wide range of novel primate models (breeding lines with
informative mutations) that will be invaluable for research concerning pathogenesis and the
development of treatments for AD/ADRD.

## Key facts

- **NIH application ID:** 10121833
- **Project number:** 3U24EY029904-03S1
- **Recipient organization:** BAYLOR COLLEGE OF MEDICINE
- **Principal Investigator:** RUI CHEN
- **Activity code:** U24 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $393,484
- **Award type:** 3
- **Project period:** 2018-09-30 → 2021-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10121833

## Citation

> US National Institutes of Health, RePORTER application 10121833, Novel Model Systems for the Study of Cone Disorders and Other Heritable Retinal Diseases (3U24EY029904-03S1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10121833. Licensed CC0.

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