Gene editing approaches for inherited rhodopsin-related blindness
Gene Editing and Silencing in Phototransduction
['FUNDING_R01'] · COLUMBIA UNIVERSITY HEALTH SCIENCES · NIH-11176079
This project develops CRISPR-based methods to selectively silence or correct dominant rhodopsin mutations that cause retinitis pigmentosa, with the goal of preserving vision in affected patients.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | COLUMBIA UNIVERSITY HEALTH SCIENCES (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-11176079 on ClinicalTrials.gov |
What this research studies
Researchers are developing two gene-based approaches to stop vision loss from dominant rhodopsin (RHO) mutations: allele-specific CRISPR 'SNP editing' that targets only the mutant copy, and an ablate-and-replace strategy that removes the bad gene and provides a healthy copy. They test these methods in a humanized mouse model that carries a human RHO mutation to mimic the human disease. The team compares how well each approach protects photoreceptors and preserves sight-related function in the model. The work is meant to prepare these techniques for future translation toward human treatments.
Who could benefit from this research
Good fit: People with autosomal-dominant retinitis pigmentosa caused by known pathogenic RHO (rhodopsin) mutations would be the most likely candidates for related future therapies.
Not a fit: Patients whose retinal degeneration is due to non-RHO causes, recessive mutations, or who have advanced photoreceptor loss are unlikely to benefit from these specific approaches.
Why it matters
Potential benefit: If successful, these approaches could stop or slow vision loss and potentially restore retinal function in people with dominant RHO-related retinitis pigmentosa.
How similar studies have performed: Related gene-silencing and gene-replacement approaches have shown promise in laboratory models and early-stage work, but allele-specific CRISPR SNP editing is novel and has not yet been proven in humans.
Where this research is happening
NEW YORK, UNITED STATES
- COLUMBIA UNIVERSITY HEALTH SCIENCES — NEW YORK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: TSANG, STEPHEN H — COLUMBIA UNIVERSITY HEALTH SCIENCES
- Study coordinator: TSANG, STEPHEN H
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.