How non-coding DNA affects the eye's light-sensing cells
Non-Coding Genetic Vulnerabilities in Human Photoreceptor Function and Disease
This project looks for pieces of non-coding DNA that control retinal photoreceptors to help people with inherited or unexplained vision loss.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Seattle Children's Hospital NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project ID | NIH-11224983 on NIH RePORTER |
What this research studies
You'll be contributing to efforts that map the DNA switches (non-coding regions) that control genes in the eye's light-sensing cells, the photoreceptors. The team uses single-cell epigenomic methods (including ATAC-seq), machine learning, and genetic data from human retinal tissue and models to find candidate regulatory elements. They then run high-throughput lab tests to determine which elements are necessary for photoreceptor development, function, and survival. The goal is to identify patterns that predict which non-coding changes can cause inherited vision problems.
Who could benefit from this research
Good fit: Ideal participants are adults (21+) with inherited retinal disease, unexplained vision loss, or people willing to donate retinal tissue or clinical/genetic data for research.
Not a fit: People whose vision loss is clearly due to non-genetic causes (like trauma or infection) or children under 21 may not receive direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could improve genetic diagnoses and point toward new corrective therapies for retinal diseases.
How similar studies have performed: Related single-cell and epigenomic studies have identified retinal regulatory regions, but large-scale functional mapping of essential non-coding elements is still relatively new.
Where this research is happening
Seattle, United States
- Seattle Children's Hospital — Seattle, United States (Active)
Researchers
- Principal investigator: Cherry, Timothy Joel — Seattle Children's Hospital
- Study coordinator: Cherry, Timothy Joel
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.