How a key developmental signal shapes the eye and can cause coloboma
Hedgehog Signaling in Optic Fissure Morphogenesis and Coloboma
This work looks at how changes in the Hedgehog signaling pathway disrupt early eye formation and lead to uveal coloboma, aiming to help people born with this eye defect.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Utah State Higher Education System--University of Utah NIH-funded |
| Lab location | 1 site (Salt Lake City, United States) |
| Project ID | NIH-11142405 on NIH RePORTER |
What this research studies
From the patient's perspective, the researchers use zebrafish embryos (whose eye development mirrors humans) to watch eye tissues move and fold in real time with advanced 4‑D imaging and cell tracking. They compare normal fish to genetic models with overactive Hedgehog signaling that produce coloboma-like defects. The team also performs single-cell RNA sequencing to find the specific genes (for example, matrix proteoglycans like agrin) that change when Hedgehog signaling is altered. By testing how those genes affect cell shape and movement, they hope to pinpoint molecular steps that fail during optic fissure formation.
Who could benefit from this research
Good fit: People born with uveal coloboma or families affected by syndromes linked to coloboma (for example CHARGE or Gorlin/PTCH-related conditions) would be most directly interested in the findings.
Not a fit: Patients with vision loss from non-developmental causes (trauma or later-life eye disease) are unlikely to benefit directly from this basic developmental research.
Why it matters
Potential benefit: If successful, this research could reveal specific molecular causes of coloboma and point toward targets for future genetic testing or therapies.
How similar studies have performed: Previous genetic and animal studies have linked Hedgehog pathway abnormalities to coloboma, but using single-cell sequencing to map the exact downstream genes and cell behaviors is a newer approach.
Where this research is happening
Salt Lake City, United States
- Utah State Higher Education System--University of Utah — Salt Lake City, United States (Active)
Researchers
- Principal investigator: Kwan, Kristen M — Utah State Higher Education System--University of Utah
- Study coordinator: Kwan, Kristen M
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.