How the GATA3 gene affects facial development in hemifacial microsomia
The role of GATA3 in hemifacial microsomia
['FUNDING_R01'] · UNIVERSITY OF COLORADO DENVER · NIH-11258939
This project looks at whether changes in the GATA3 gene cause the asymmetric facial differences seen in people with hemifacial microsomia.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF COLORADO DENVER (nih funded) |
| Locations | 1 site (Aurora, UNITED STATES) |
| Trial ID | NIH-11258939 on ClinicalTrials.gov |
What this research studies
If you or your child has hemifacial microsomia, this research uses genetically altered mice to model the condition and to follow the facial precursor cells (cranial neural crest cells) as they migrate and form the jaw, ear, and other facial parts. Scientists will measure changes in signaling genes like BMP4 and FGF8 and compare both sides of the face to understand why one side may be more affected. They will examine embryos at early stages to see whether problems start before the cells reach the pharyngeal arches and will use gene-expression analyses and cell-tracking methods to map gene regulatory network changes. The project aims to define exactly when and where the GATA3 gene is needed during facial development.
Who could benefit from this research
Good fit: People born with hemifacial microsomia or families with a history of the condition would be the most relevant group for any future patient-focused studies or sample donations related to this work.
Not a fit: Patients with facial differences caused solely by non-genetic environmental factors or by conditions unrelated to GATA3 are less likely to benefit directly from this specific line of research.
Why it matters
Potential benefit: A clearer picture of how GATA3 works could help future genetic testing, risk counseling, and eventually more targeted approaches to preventing or treating hemifacial microsomia.
How similar studies have performed: Previous genetic studies and mouse models have linked GATA3 to facial symmetry and related defects, but the precise cellular mechanisms and timing remain novel and underexplored.
Where this research is happening
Aurora, UNITED STATES
- UNIVERSITY OF COLORADO DENVER — Aurora, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: CLOUTHIER, DAVID E. — UNIVERSITY OF COLORADO DENVER
- Study coordinator: CLOUTHIER, DAVID E.
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.