How RNA splicing affects early facial development
Srsf3-mediated alternative RNA splicing in craniofacial development
['FUNDING_R01'] · UNIVERSITY OF COLORADO DENVER · NIH-11298931
Researchers are learning how a protein called SRSF3 controls RNA splicing during early facial formation to better understand causes of clefting and other birth defects.
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-11298931 on ClinicalTrials.gov |
What this research studies
If your child has a craniofacial birth defect, this work looks at the molecular steps that shape the face before birth. Researchers use mouse models and cells from developing facial tissue to follow PDGFRa–PI3K–Akt signaling and how it changes RNA splicing through the RNA-binding protein Srsf3. They remove or alter Srsf3 in neural crest cells and measure effects on cell growth, survival, and splicing of key signaling genes. The goal is to connect receptor signaling to changes in RNA processing that lead to facial clefts, which could point to new ways to prevent or treat these defects.
Who could benefit from this research
Good fit: People or families affected by congenital craniofacial differences who want to follow research progress or consider contributing samples would be the most directly interested population.
Not a fit: Adults with established, nondevelopmental facial injuries or conditions unrelated to embryonic craniofacial development are unlikely to see direct short-term benefits from this basic science project.
Why it matters
Potential benefit: Better understanding of the molecular causes of craniofacial birth defects could point to new targets for prevention, diagnosis, or future therapies.
How similar studies have performed: Prior mouse and cell studies have shown PDGFRa–PI3K signaling and Srsf3 influence facial development, but linking receptor signaling to regulation of RNA splicing is a newer and growing area.
Where this research is happening
Aurora, UNITED STATES
- UNIVERSITY OF COLORADO DENVER — Aurora, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: FANTAUZZO, KATHERINE ANN — UNIVERSITY OF COLORADO DENVER
- Study coordinator: FANTAUZZO, KATHERINE ANN
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.