How CHD7 helps the retina develop
Functions of chromatin remodeler Chd7 in retinal cell development
Researchers are looking at how changes in the CHD7 gene affect retinal cells to better understand vision problems in people with CHARGE syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Kentucky NIH-funded |
| Lab location | 1 site (Lexington, United States) |
| Project ID | NIH-11172529 on NIH RePORTER |
What this research studies
This project uses animal models (zebrafish and mice) and molecular assays to see how the CHD7 protein controls genes during retinal cell differentiation. Scientists will examine photoreceptors and retinal progenitor cells and use techniques like ATAC-seq to map chromatin accessibility tied to CHD7 activity. The team aims to connect CHD7's chromatin-remodeling role to the genes that build photoreceptor outer segments and support cell-type maturation. Findings could point to specific genes or pathways that explain vision defects seen in CHARGE syndrome.
Who could benefit from this research
Good fit: People with CHARGE syndrome or known pathogenic CHD7 variants (or their caregivers) interested in research about retinal development would be the most directly relevant group.
Not a fit: Patients with vision loss from unrelated causes (for example typical age-related macular degeneration or non-CHD7 genetic eye diseases) are unlikely to directly benefit from this specific work.
Why it matters
Potential benefit: If successful, the work could identify targets to guide future treatments that protect or restore photoreceptors in people with CHD7-related vision loss.
How similar studies have performed: Previous animal studies have shown that Chd7 loss reduces cone numbers and disrupts photoreceptor outer segments, but directly linking CHD7 chromatin remodeling to specific retinal gene programs is a newer, more mechanistic approach.
Where this research is happening
Lexington, United States
- University of Kentucky — Lexington, United States (Active)
Researchers
- Principal investigator: Morris, Ann C — University of Kentucky
- Study coordinator: Morris, Ann C
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.