CRISPR and gene editing approaches for large USH2A-related eye disease
Official title: CRISPR/Cas9-based gene editing approaches for the treatment of USH2A-associated diseases
Funded at Massachusetts Eye and Ear Infirmary · NIH-11418500 · Data updated 2026-11-12
Aims to develop gene-editing strategies to help people with USH2A-related retinal disease who cannot be treated with standard AAV gene therapy.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts Eye and Ear Infirmary NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | June 1, 2022 |
| Project end | May 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $595,058 |
| NIH project number | 5R01EY033107-05 |
| Project ID | NIH-11418500 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with USH2A-associated retinitis pigmentosa or Usher syndrome type II and who have mutations not amenable to standard AAV gene augmentation.
✕Less likely to help
Patients whose disease is not caused by USH2A mutations or who are not eligible for gene-editing approaches may not benefit.
What this research studies
This project focuses on using advanced gene-editing tools to target USH2A, a large gene responsible for progressive vision loss and, in many cases, hearing loss. Researchers will explore approaches like CRISPR/Cas9 to overcome the 4–5 kb limit of conventional AAV therapy, aiming to safely repair or bypass mutations. The work involves testing strategies in cell and animal models to move toward treatments that slow or prevent vision and hearing decline in patients with USH2A-related conditions.
Why it matters
Potential benefit: If successful, the work could lead to new therapies that slow vision loss and preserve hearing for people with USH2A-associated diseases.
How similar studies have gone: Previous efforts show promise for exon skipping and gene editing in similar IRD models, but work on USH2A is still emerging.
Where this research is happening
-
Massachusetts Eye and Ear Infirmary
Boston, United States Active
Researchers
- Principal investigator: Liu, Qin — Massachusetts Eye and Ear Infirmary
- Study coordinator: Liu, Qin
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.