Finding Missing Genetic Causes Behind Inherited Vision Loss
Official title: Finding Missing Genetic Causality of Inherited Retinal Degenerations
Funded at Massachusetts Eye and Ear Infirmary · NIH-11367496 · Data updated 2026-11-12
Researchers are studying rare genetic changes to better understand why inherited retinal degenerations happen and how this could improve diagnosis and treatment for patients with these eye diseases.
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 | September 30, 2024 |
| Project end | April 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $684,891 |
| NIH project number | 5R01EY035717-03 |
| Project ID | NIH-11367496 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with inherited retinal degenerations or related genetic eye disorders who have VUS results or unclear genetic etiologies.
✕Less likely to help
Patients without IRD or without involvement of genetic testing in their care may not directly benefit.
What this research studies
This project uses inherited retinal degenerations as a model to uncover how rare genetic variants cause disease, especially through mis-splicing of RNA. By focusing on how these variants affect gene function, the study aims to improve genetic diagnostics and access to emerging therapies. The work combines genetic analysis with functional tests to link specific variants to disease mechanisms, with implications for patient care in ophthalmology and beyond. Participants could benefit from future diagnostic improvements and more accurate prognostic information if the findings translate to clinical practice.
Why it matters
Potential benefit: Better understanding of which genetic changes cause retinal disease could lead to more accurate genetic tests and faster access to targeted treatments for patients with inherited retinal degenerations.
How similar studies have gone: Previous research shows that linking variants to splicing changes can reveal disease mechanisms, but many VUSs remain unresolved.
Where this research is happening
-
Massachusetts Eye and Ear Infirmary
Boston, United States Active
Researchers
- Principal investigator: Bujakowska, Kinga — Massachusetts Eye and Ear Infirmary
- Study coordinator: Bujakowska, Kinga
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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.