Genes that change how inherited retinal disorders behave
Official title: Genetic Modifiers of Retinal Disease
Funded at Jackson Laboratory · NIH-11302629 · Data updated 2026-11-12
This work looks for other genes that change how CRB1-related inherited retinal diseases affect children and adults who carry CRB1 mutations.
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 | 2026 |
| Award (this year) | $616,564 |
| NIH project number | 5R01EY027305-09 |
| Project ID | NIH-11302629 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are children or adults with a confirmed CRB1 mutation or patients willing to provide genetic information and clinical eye data.
✕Less likely to help
People whose vision loss is not caused by CRB1 mutations or who do not provide genetic/clinical information are unlikely to benefit directly from this project.
What this research studies
From a patient's perspective, researchers want to know why people with the same CRB1 mutation can have very different eye problems, from early severe blindness to slower retinitis pigmentosa. They compare genetic data and clinical features from people with CRB1 mutations and study how other background genes and different CRB1 isoforms alter disease in lab models and animals. The team uses human sequencing, patient phenotype data, and laboratory experiments to link specific modifier genes to particular retinal changes. Understanding these modifiers could help explain individual differences in disease and point to new treatment targets or ways to predict disease course.
Why it matters
Potential benefit: If successful, this could identify genes or pathways that lead to new treatments or better predictions of disease course for people with CRB1-related retinal disorders.
How similar studies have gone: Some prior work has found modifier genes for other inherited retinal diseases, but finding modifiers specific to CRB1 is relatively new and still challenging.
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.
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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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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.
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Clear genetic answers for X-linked inherited retinal diseases
Building a trusted catalog of gene changes linked to X-linked inherited retinal diseases so people can get more accurate genetic diagnoses and access gene therapies.
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.