How the eye forms during development
Regulation of Eye Morphogenesis
['FUNDING_R01'] · VANDERBILT UNIVERSITY MEDICAL CENTER · NIH-11306563
This research looks at genes and cellular motors that help the eye form before birth to understand why some babies are born with small or missing eyes.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | VANDERBILT UNIVERSITY MEDICAL CENTER (nih funded) |
| Locations | 1 site (NASHVILLE, UNITED STATES) |
| Trial ID | NIH-11306563 on ClinicalTrials.gov |
What this research studies
Researchers are studying molecular steps that shape the developing eye and close the optic fissure, processes that go wrong in microphthalmia, anophthalmia, and coloboma. They use mouse models with genes turned off in eye tissues, high-resolution imaging to watch actin-rich filopodia at the fissure margins, and experiments on signaling molecules like Porcn and the Rho GTPase Cdc42. A focus is on the unconventional motor Myosin X (Myo10), which can drive filopodia formation and is a candidate gene for human eye malformations. The team aims to define downstream targets and cellular events that could explain how these congenital malformations arise.
Who could benefit from this research
Good fit: Ideal candidates to connect with this research are families affected by congenital eye malformations (microphthalmia, anophthalmia, or coloboma) who are interested in genetic studies or sample donation.
Not a fit: People with acquired adult eye diseases (for example, age-related macular degeneration or glaucoma) or those whose vision loss is not due to developmental malformation are unlikely to directly benefit.
Why it matters
Potential benefit: If successful, this work could improve genetic diagnosis and point to future ways to prevent or treat congenital eye malformations that cause childhood blindness.
How similar studies have performed: Previous genetic and animal-model studies have identified several genes linked to microphthalmia and coloboma, but linking Myo10 to these conditions in mammals is relatively new.
Where this research is happening
NASHVILLE, UNITED STATES
- VANDERBILT UNIVERSITY MEDICAL CENTER — NASHVILLE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: FUHRMANN, SABINE — VANDERBILT UNIVERSITY MEDICAL CENTER
- Study coordinator: FUHRMANN, SABINE
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.
Conditions: Cancer Suppressor Genes, Candidate Disease Gene