Personalized treatments for inherited retinal degeneration
Precision Medicine for Inherited Retinal Degenerations
This project looks for the genes and cell-level causes of inherited retinal degeneration so new gene-based and protective treatments can help preserve vision for people with these conditions.
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 ID | NIH-11141586 on NIH RePORTER |
What this research studies
If I have an inherited retinal degeneration, this work will search for my disease-causing gene by sequencing DNA and analyzing patient samples. Researchers will study how specific genetic changes harm photoreceptors and retinal pigment epithelium cells using lab models and patient-derived materials. They will use those findings to design gene replacement and neuroprotective approaches aimed at stopping or slowing vision loss. A key goal is to find genetic causes for the roughly one-third of patients who currently lack a genetic diagnosis.
Who could benefit from this research
Good fit: People with inherited retinal degeneration or unexplained inherited vision loss, including those with a known genetic mutation or without a current genetic diagnosis.
Not a fit: Patients whose vision loss is not due to a genetic retinal disease or who have irreversible, end-stage retinal damage may not benefit from these approaches.
Why it matters
Potential benefit: Could enable gene or protective therapies that prevent or slow vision loss for people with inherited retinal degenerations.
How similar studies have performed: Earlier gene therapies for specific retinal genes (for example RPE65) and many lab studies support this approach, but finding unknown genes and mapping mechanisms remains an active and evolving area.
Where this research is happening
Boston, United States
- Massachusetts Eye and Ear Infirmary — Boston, United States (Active)
Researchers
- Principal investigator: Pierce, Eric a — Massachusetts Eye and Ear Infirmary
- Study coordinator: Pierce, Eric a
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.