Genes that change how inherited retinal disorders behave
Genetic Modifiers of Retinal Disease
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 ID | NIH-11302629 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates are children or adults with a confirmed CRB1 mutation or patients willing to provide genetic information and clinical eye data.
Not a fit: 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.
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 performed: 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
Bar Harbor, United States
- Jackson Laboratory — Bar Harbor, United States (Active)
Researchers
- Principal investigator: Nishina, Patsy M — Jackson Laboratory
- Study coordinator: Nishina, Patsy M
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.