How genes are switched on and off during eye development
Wiring and rewiring of the chromatin landscape during retinogenesis
This project looks at how the packaging and control of genes guide retina formation to help understand congenital eye conditions like anophthalmia and microphthalmia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pittsburgh at Pittsburgh NIH-funded |
| Lab location | 1 site (Pittsburgh, United States) |
| Project ID | NIH-11358443 on NIH RePORTER |
What this research studies
Researchers will use mouse models and advanced genomic technologies to map how chromatin (the way DNA is packaged) and key transcription factors control retinal progenitor cells as the eye forms. They will introduce and study mutations in core regulatory genes, including BRG1-related factors, to see how those changes alter cell behaviour and gene activity. The team will chart how the chromatin landscape is 'wired' and 'rewired' during different stages of retinogenesis to link molecular changes to congenital eye malformations. Findings aim to reveal the genetic and epigenetic circuits that, when disrupted, lead to severe developmental eye disorders.
Who could benefit from this research
Good fit: Ideal candidates are individuals or families affected by congenital eye malformations (such as anophthalmia or microphthalmia) who may wish to contribute genetic or clinical information to research.
Not a fit: People with adult-onset retinal diseases or vision loss from injury are unlikely to receive direct benefit from this developmental genetics research.
Why it matters
Potential benefit: If successful, this work could improve genetic diagnosis and inform future strategies to prevent or treat congenital eye malformations.
How similar studies have performed: Related genomic and chromatin studies have advanced understanding of eye development, but turning these discoveries into direct clinical treatments for congenital defects remains early and limited.
Where this research is happening
Pittsburgh, United States
- University of Pittsburgh at Pittsburgh — Pittsburgh, United States (Active)
Researchers
- Principal investigator: Al Diri, Issam — University of Pittsburgh at Pittsburgh
- Study coordinator: Al Diri, Issam
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.