Understanding how SSBP1 mutations affect vision
Molecular Mechanisms Underlying the Effects of SSBP1 Mutation on Vision
['FUNDING_R21'] · COLUMBIA UNIVERSITY HEALTH SCIENCES · NIH-11036542
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
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | COLUMBIA UNIVERSITY HEALTH SCIENCES (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-11036542 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Optic Atrophy-13 or related mitochondrial eye diseases.
Not a fit: Patients with retinal degeneration not linked to SSBP1 mutations may not benefit from this research.
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 performed: 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
NEW YORK, UNITED STATES
- COLUMBIA UNIVERSITY HEALTH SCIENCES — NEW YORK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: WANG, NAN-KAI — COLUMBIA UNIVERSITY HEALTH SCIENCES
- Study coordinator: WANG, NAN-KAI
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 below.