How super-enhancers control development of the human retina
The Role of Modular Super-Enhancers in the Developing Murine and Human Retina
['FUNDING_R01'] · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · NIH-11310213
This project looks at how large DNA switches called super-enhancers control gene activity during human and mouse retina development to help explain some forms of inherited vision loss.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | ST. JUDE CHILDREN'S RESEARCH HOSPITAL (nih funded) |
| Locations | 1 site (MEMPHIS, UNITED STATES) |
| Trial ID | NIH-11310213 on ClinicalTrials.gov |
What this research studies
Researchers are mapping which DNA regulatory regions control different retinal cell types as the eye forms by using human and mouse samples with single-cell RNA sequencing, ATAC-seq, and HiChIP. They integrate these datasets into a public retinal nucleome database (iRNDb) to trace links between distant enhancers and the genes they regulate. The team will use these maps to search for non-coding mutations that could underlie retinopathies. All generated data are shared so other scientists and clinicians can use the maps to study patient genetic changes.
Who could benefit from this research
Good fit: Ideal contributors would include people with inherited or early-onset retinal conditions who can provide clinical data or consent for tissue or sample donation.
Not a fit: Patients seeking immediate treatment or those with eye conditions unrelated to genetic or developmental retinal changes are unlikely to benefit directly from this basic research.
Why it matters
Potential benefit: If successful, this work could help diagnose genetic causes of retinal disease and point to targets for future therapies.
How similar studies have performed: Chromatin-mapping and single-cell methods have linked regulatory DNA to disease in other tissues and the team has an existing retinal nucleome resource, but directly pairing super-enhancers with their target genes in the retina remains technically challenging and relatively new.
Where this research is happening
MEMPHIS, UNITED STATES
- ST. JUDE CHILDREN'S RESEARCH HOSPITAL — MEMPHIS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: DYER, MICHAEL A — ST. JUDE CHILDREN'S RESEARCH HOSPITAL
- Study coordinator: DYER, MICHAEL A
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.