How DNA 'demethylation' controls light-sensing cells and links to inherited vision loss
The role of the TET-dependent DNA demethylation pathway in photoreceptor development and pathology
['FUNDING_R01'] · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · NIH-11143771
This work looks at whether a DNA-editing process called TET-dependent demethylation helps photoreceptor cells develop and whether its failure can lead to retinitis pigmentosa and related inherited vision loss.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MIAMI SCHOOL OF MEDICINE (nih funded) |
| Locations | 1 site (CORAL GABLES, UNITED STATES) |
| Trial ID | NIH-11143771 on ClinicalTrials.gov |
What this research studies
From a patient's perspective, researchers will examine chemical tags on DNA that switch photoreceptor genes on and off during eye development. They will compare human retinal tissue and mouse models to see when and where those tags are removed and how that affects gene activity. The team will manipulate the TET demethylation pathway in lab models to test whether failed demethylation can silence critical photoreceptor genes and cause cell dysfunction or death. Results may clarify non‑mutation causes of inherited photoreceptor diseases and guide future therapies.
Who could benefit from this research
Good fit: People with inherited photoreceptor disorders such as retinitis pigmentosa, or those interested in contributing clinical samples for vision research, are the most relevant participants for related sample-collection or future clinical follow-ups.
Not a fit: Patients whose vision loss is due to unrelated conditions like age-related macular degeneration, glaucoma, or trauma are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could reveal epigenetic causes of inherited photoreceptor loss and point to new ways to prevent or reverse vision decline.
How similar studies have performed: Previous studies have shown DNA methylation changes during retinal development, but applying TET-focused epigenetic mechanisms to explain or treat photoreceptor dystrophies is relatively new and not yet clinically proven.
Where this research is happening
CORAL GABLES, UNITED STATES
- UNIVERSITY OF MIAMI SCHOOL OF MEDICINE — CORAL GABLES, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: IVANOV, DMITRY V — UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
- Study coordinator: IVANOV, DMITRY V
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.