Investigating genetic factors that influence retinal diseases
Official title: Genetic Modifiers of Retinal Disease
Funded at Jackson Laboratory · NIH-11046663 · Data updated 2026-11-12
This study is looking at how changes in the CRB1 gene can cause eye conditions like Leber Congenital Amaurosis and retinitis pigmentosa, and it aims to find out how genetics and the environment can influence the different ways these conditions show up in people, so we can better understand and help those affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jackson Laboratory NIH-funded |
| Lab location | 1 site (Bar Harbor, United States) |
| Project start | March 1, 2022 |
| Project end | February 28, 2027 |
| Funding year | 2025 |
| Award (this year) | $616,564 |
| NIH project number | 5R01EY027305-08 |
| Project ID | NIH-11046663 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with Leber Congenital Amaurosis or retinitis pigmentosa, particularly those with CRB1 gene mutations.
✕Less likely to help
Patients with retinal diseases not associated with genetic mutations or those without a family history of heritable retinal disorders may not benefit from this research.
What this research studies
This research focuses on understanding heritable retinal disorders, particularly those caused by mutations in the CRB1 gene, which can lead to conditions like Leber Congenital Amaurosis and retinitis pigmentosa. The study aims to explore how genetic background and environmental factors may affect the variability in disease presentation among patients. By analyzing different genetic modifiers, the research seeks to uncover the reasons behind the diverse symptoms and progression of these retinal diseases. This could involve genetic testing and detailed patient assessments to correlate genetic information with clinical outcomes.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential new treatments for patients with heritable retinal disorders.
How similar studies have gone: Previous research has shown promise in understanding genetic modifiers in other heritable diseases, suggesting potential for success in this area as well.
Where this research is happening
-
Jackson Laboratory
Bar Harbor, United States Active
Researchers
- Principal investigator: Nishina, Patsy M — Jackson Laboratory
- Study coordinator: Nishina, Patsy M
Related research
Other NIH-funded projects on the same topics.
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Integrative Curation of Clinically Relevant Variants in X-Linked Inherited Retinal Disease Genes
A project to expand expert review of genetic variants linked to X‑linked inherited retinal diseases so patients can access gene therapies.
-
Intravitreal gene therapy for inherited retinal disease
A specialized gene therapy approach delivered inside the eye is being studied to help children with inherited retinal diseases maintain or improve vision.
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Retinal Disease: Molecular Basis and Pathophysiology
A gene mutation linked to retinal disease is studied to understand how it changes cellular pathways and leads to vision problems.
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Genes that change how inherited retinal disorders behave
This work looks for other genes that change how CRB1-related inherited retinal diseases affect children and adults who carry CRB1 mutations.
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A new antibody drug to restore the retina’s protective barrier
This project tests a novel antibody designed to boost a natural signaling pathway to strengthen the retina’s protective barrier for people with retinal diseases that cause leaking or inflammation.
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Eye-injection gene therapy for inherited retinal disease
A gene therapy delivered by an injection into the eye aims to treat inherited forms of retinal degeneration, including in children.
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.