Understanding how SSBP1 mutations affect vision
Official title: Molecular Mechanisms Underlying the Effects of SSBP1 Mutation on Vision
Funded at Columbia University Health Sciences · NIH-11036542 · Data updated 2026-11-12
This study is looking at how a specific gene mutation affects vision in people with Optic Atrophy-13, using a special mouse model to understand how it harms retinal cells, with the goal of finding new ways to help preserve sight for those affected.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | April 1, 2025 |
| Project end | March 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $261,550 |
| NIH project number | 1R21EY037007-01 |
| Project ID | NIH-11036542 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Optic Atrophy-13 or related mitochondrial eye diseases.
✕Less likely to help
Patients with retinal degeneration not linked to SSBP1 mutations may not benefit from this research.
What this research studies
This research investigates the molecular mechanisms behind retinal degeneration caused by mutations in the SSBP1 gene, which is linked to a condition known as Optic Atrophy-13. Using a novel mouse model that mimics the human condition, the study aims to explore how the R107Q variant of the SSBP1 gene impacts retinal cells and mitochondrial function. By examining the effects of this mutation, the researchers hope to uncover insights that could lead to new therapies aimed at preserving vision in affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies to prevent vision loss in patients with mitochondrial eye diseases.
How similar studies have gone: Previous research has shown promising results in understanding mitochondrial dysfunction in other genetic conditions, suggesting potential for success in this area as well.
Where this research is happening
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Wang, Nan-Kai — Columbia University Health Sciences
- Study coordinator: Wang, Nan-Kai
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About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.