How the eye's light-sensing enzyme PDE6 is controlled
Photoreceptor Phosphodiesterase Regulation
['FUNDING_R01'] · UNIVERSITY OF NEW HAMPSHIRE · NIH-11128802
Researchers are learning how the enzyme PDE6 controls rod and cone cells to help people with inherited retinal diseases get clearer diagnoses and future therapies.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF NEW HAMPSHIRE (nih funded) |
| Locations | 1 site (DURHAM, UNITED STATES) |
| Trial ID | NIH-11128802 on ClinicalTrials.gov |
What this research studies
This project focuses on PDE6, a key enzyme that sets the speed and sensitivity of rod and cone photoreceptors in the eye. The team will combine information from genetic sequencing with laboratory experiments to see how different mutations change PDE6's behavior. They will map how PDE6 binds partner proteins and how those interactions turn the enzyme on and off during the light response. Understanding these molecular events aims to explain how specific inherited mutations lead to retinal diseases like retinitis pigmentosa and cone dystrophy.
Who could benefit from this research
Good fit: People with inherited retinal diseases or those whose genetic testing shows variants in PDE6 genes (for example retinitis pigmentosa, cone dystrophy, or congenital stationary night blindness) would be the most relevant candidates.
Not a fit: People whose vision loss is caused by non-genetic issues or by genes unrelated to PDE6 are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could improve interpretation of genetic test results and highlight new targets for treatments of inherited retinal disorders.
How similar studies have performed: Genetic links between PDE6 mutations and retinal disease are established, but detailed molecular mapping of PDE6's dynamic interactions and allosteric regulation is relatively novel and still emerging.
Where this research is happening
DURHAM, UNITED STATES
- UNIVERSITY OF NEW HAMPSHIRE — DURHAM, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: COTE, RICK H — UNIVERSITY OF NEW HAMPSHIRE
- Study coordinator: COTE, RICK H
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.