Investigating genetic factors that influence retinal diseases
Genetic Modifiers of Retinal Disease
['FUNDING_R01'] · JACKSON LABORATORY · NIH-11046663
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
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | JACKSON LABORATORY (nih funded) |
| Locations | 1 site (BAR HARBOR, UNITED STATES) |
| Trial ID | NIH-11046663 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Leber Congenital Amaurosis or retinitis pigmentosa, particularly those with CRB1 gene mutations.
Not a fit: 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.
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 performed: 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
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.