# Nonhuman Primate Model of Inherited Photoreceptor Degeneration

> **NIH NIH R01** · OREGON HEALTH & SCIENCE UNIVERSITY · 2024 · $773,948

## Abstract

PROJECT SUMMARY
Blindness can be caused by many genetic mutations that lead to degeneration of the retina, but most of these
diseases have no treatments. The development of safe and effective treatments critically depends on the
ability to test them in appropriate animal models before using them in human patients. Because nonhuman
primates are the only animals with retinal structure like humans, including the macula that underlies central
vision, they have the potential to provide the most accurate and informative models of blinding diseases.
Indeed, the lack of such models has been identified as a major impediment to the rapid translation of promising
therapies to clinical use for preventing and treating blindness.
We have spent many years screening the large macaque colony at the Oregon National Primate Research
Center for naturally-occurring retinal diseases. We recently discovered a family of rhesus monkeys with
Bardet-Biedl syndrome, an inherited disease resulting in severe retinal degeneration combined with kidney
disease, which closely resembles the human form of this disorder. We identified the cause as a mutation in the
BBS7 gene, genotyped a pedigree including at least 50 carriers, and examined the nature of the retinal
degeneration by histopathology. We now propose to propagate this model, and use it to test a novel gene
therapy with high potential to preserve and restore sight in this and similar diseases in human patients.
The specific aims of this proposal are:
1. To breed animals with Bardet-Biedl syndrome and determine the characteristics and time course of the
disease.
2. To deliver a gene therapy to animals with this disease and evaluate its ability to preserve or restore central
vision.
This spontaneously-occurring monkey disorder closely mirrors Bardet-Biedl syndrome as seen in human
patients. In addition to providing a model of this specific genetic disease, it also provides a model for the large
family of similar retinal degenerations called retinitis pigmentosa that together are a major inherited cause of
blindness. This discovery provides us with a unique opportunity to propagate and characterize a primate model
of an inherited retinal degeneration and to use these animals to test gene therapy approaches to therapy for
this entire class of blinding disorders. Our goal is to develop a method to preserve and restore vision in human
patients with this and many other blinding diseases.

## Key facts

- **NIH application ID:** 10923946
- **Project number:** 5R01EY035309-02
- **Recipient organization:** OREGON HEALTH & SCIENCE UNIVERSITY
- **Principal Investigator:** MARTHA NEURINGER
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $773,948
- **Award type:** 5
- **Project period:** 2023-09-30 → 2026-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10923946

## Citation

> US National Institutes of Health, RePORTER application 10923946, Nonhuman Primate Model of Inherited Photoreceptor Degeneration (5R01EY035309-02). Retrieved via AI Analytics 2026-05-21 from https://api.ai-analytics.org/grant/nih/10923946. Licensed CC0.

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