How the PAX6 gene controls lens and early eye development
Pax6 as a key regulator of lens development
Researchers are using lab-grown human eye organoids and mouse models to learn how PAX6 and SOX2 gene changes lead to congenital eye conditions like aniridia and anophthalmia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Albert Einstein College of Medicine NIH-funded |
| Lab location | 1 site (Bronx, United States) |
| Project ID | NIH-11091636 on NIH RePORTER |
What this research studies
This project grows human eye organoids from stem cells and compares them with three mouse Pax6 models to study early lens and retinal development. Scientists will use molecular tools such as ATAC-seq to map where PAX6 and SOX2 bind DNA and to examine retinoic acid signaling during eye formation. The work focuses on specific mutations known to cause aniridia, microphthalmia, and anophthalmia to see how those mutations disrupt normal cell programs. Results are meant to link molecular changes to congenital eye problems and point toward future treatment strategies.
Who could benefit from this research
Good fit: People with congenital eye conditions linked to PAX6 or SOX2 mutations (for example aniridia, microphthalmia, or anophthalmia) or family members willing to donate cells or medical records would be the most relevant participants.
Not a fit: Individuals with common adult-onset eye diseases unrelated to PAX6/SOX2, such as typical age-related macular degeneration or primary open-angle glaucoma, are unlikely to benefit directly.
Why it matters
Potential benefit: If successful, the work could reveal molecular causes of congenital eye disorders and identify targets that guide future therapies for conditions like aniridia and anophthalmia.
How similar studies have performed: Other labs have successfully modeled eye development with iPSC-derived organoids and have shown important roles for PAX6, but translating these findings into therapies is still at an early stage.
Where this research is happening
Bronx, United States
- Albert Einstein College of Medicine — Bronx, United States (Active)
Researchers
- Principal investigator: Cvekl, Ales — Albert Einstein College of Medicine
- Study coordinator: Cvekl, Ales
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.