Understanding the causes of inherited retinal degeneration using advanced genetic techniques
Unraveling the molecular pathology of retinal degeneration through single cell genomics
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA, SAN DIEGO · NIH-11111449
This study is looking into the genetic causes of inherited retinal degeneration, a condition that can lead to blindness, by mapping out important parts of our DNA in eye cells to find mutations that might be causing the problem, which could help develop new treatments in the future.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, SAN DIEGO (nih funded) |
| Locations | 1 site (LA JOLLA, UNITED STATES) |
| Trial ID | NIH-11111449 on ClinicalTrials.gov |
What this research studies
This research aims to uncover the molecular mechanisms behind inherited retinal degeneration (IRD), a leading cause of blindness. By creating detailed maps of specific regulatory elements in human retinal cells, the team will identify mutations that contribute to IRD, particularly those in non-coding regions of DNA. The study employs advanced genomic techniques and utilizes both cellular and animal models to explore how these mutations affect retinal function. This work is crucial for understanding the genetic basis of IRD and could lead to new therapeutic strategies.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with inherited retinal degeneration, particularly those with unresolved genetic causes.
Not a fit: Patients with retinal degeneration caused by known coding mutations may not benefit directly from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment options for patients with inherited retinal degeneration.
How similar studies have performed: Previous research has shown success in identifying genetic causes of other inherited conditions using similar genomic mapping techniques, suggesting a promising avenue for this study.
Where this research is happening
LA JOLLA, UNITED STATES
- UNIVERSITY OF CALIFORNIA, SAN DIEGO — LA JOLLA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: AYYAGARI, RADHA — UNIVERSITY OF CALIFORNIA, SAN DIEGO
- Study coordinator: AYYAGARI, RADHA
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.