Retinal Disease: Molecular Basis and Pathophysiology
Funded at Jackson Laboratory · NIH-11370637 · Data updated 2026-11-12
A gene mutation linked to retinal disease is studied to understand how it changes cellular pathways and leads to vision problems.
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 | February 1, 1998 |
| Project end | April 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $699,455 |
| NIH project number | 5R01EY011996-22 |
| Project ID | NIH-11370637 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with retinal diseases linked to Mfrprd6 mutation or related genetic retinal conditions may be eligible for future studies or trials.
✕Less likely to help
Individuals without retinal disease or without the specific mutation are unlikely to benefit.
What this research studies
This project will look at how a specific genetic mutation in the Mfrprd6 gene affects the eye at the molecular and cellular levels. Researchers will combine clinical assessments, functional tests, and biochemical analyses to map how the mutation alters pathways, DHA levels, the cytoskeleton, and immune responses. They will use single-nucleus transcriptomics and proteomics to identify early cellular changes that precede disease symptoms. Advanced computational methods will integrate data to pinpoint perturbations that might be targets for future treatments. The study aims to connect genetic changes to three disease aspects—photoreceptor degeneration, hyperopia, and fundus spotting—with a proof-of-principle exploration of these mechanisms.
Why it matters
Potential benefit: Findings could guide the development of targeted therapies and improve prognosis for people with retinal mutations.
How similar studies have gone: Previous studies using multi-omics and single-cell approaches have revealed how mutations perturb disease pathways, supporting this integrated strategy.
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.
-
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.
-
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.
-
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.
-
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.
-
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.