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High-probability grants
According to our matching algorithm, Julia Wang is the likely recipient of the following grants.
Years |
Recipients |
Code |
Title / Keywords |
Matching score |
2018 — 2020 |
Wang, Julia |
F30Activity Code Description: Individual fellowships for predoctoral training which leads to the combined M.D./Ph.D. degrees. |
Role of Oxidative Resistance 1 (Oxr1) in Diagnosis and Pathogenesis of Neurodevelopmental Disorders @ Baylor College of Medicine
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.
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