# Role of Oxidative Resistance 1 (OXR1) in Diagnosis and Pathogenesis of Neurodevelopmental Disorders

> **NIH NIH F30** · BAYLOR COLLEGE OF MEDICINE · 2020 · $44,173

## Abstract

Project Summary
DNA sequencing technology has advanced exponentially in recent years. However, finding
meaning in sequencing results remains a challenge and a bottle neck for bringing genetic
results to clinical applications. Our lab has established and demonstrated an effective pipeline
for functionally testing potentially pathogenic human variants in Drosophila. Through our
collaborator, we identified OXR1 (Oxidative Resistance 1) as a novel disease gene candidate in
two unrelated families with recessively inherited neurodevelopmental disorder phenotypes.
OXR1 is an evolutionarily conserved gene with a protective role in oxidative stress. However,
the role of OXR1 in providing oxidative stress resistance is poorly studied. We hypothesize that
OXR1 functions in a major stress response pathway, Nrf2-Keap1 and the dysregulation of the
Nrf2-Keap1 pathway underlies the neurodevelopmental defect found in patients with rare OXR1
variants. We expect our results to inform the significance of variants found in the gene
OXR1 and to understand the molecular mechanisms of OXR1-mediated oxidation
resistance.

## Key facts

- **NIH application ID:** 10009456
- **Project number:** 5F30HD094503-03
- **Recipient organization:** BAYLOR COLLEGE OF MEDICINE
- **Principal Investigator:** Julia Wang
- **Activity code:** F30 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $44,173
- **Award type:** 5
- **Project period:** 2018-08-01 → 2021-05-27

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10009456

## Citation

> US National Institutes of Health, RePORTER application 10009456, Role of Oxidative Resistance 1 (OXR1) in Diagnosis and Pathogenesis of Neurodevelopmental Disorders (5F30HD094503-03). Retrieved via AI Analytics 2026-06-01 from https://api.ai-analytics.org/grant/nih/10009456. Licensed CC0.

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