Discovering genes that influence facial and jaw shape
Discovery and functional analysis of novel candidate genes and variants underlying craniofacial diversification in Cyprinodon pupfishes
Researchers use pupfish to find genes and DNA changes that help explain how faces and jaws form, aiming to help people born with craniofacial differences.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California Berkeley NIH-funded |
| Lab location | 1 site (Berkeley, United States) |
| Project ID | NIH-11059074 on NIH RePORTER |
What this research studies
You'd hear that researchers use Caribbean pupfish, which naturally show many different face and jaw shapes, to look for genes that control facial development. They compare genomes across wild and lab populations and use genomic mapping and CRISPR gene editing in fish to test which candidate genes or DNA changes cause shape differences. Because many of the basic face-building genes are similar across vertebrates, the team hopes findings will point to genes that matter in human craniofacial birth defects. The work involves lab breeding, detailed skull measurements, DNA sequencing, and experiments that change fish genes to see physical effects.
Who could benefit from this research
Good fit: People born with craniofacial differences (for example cleft lip or palate and other jaw or facial malformations) who are interested in genetic research might follow or benefit from this work.
Not a fit: Patients needing immediate clinical care or surgical correction should not expect direct or immediate treatment benefits from this lab-based fish genetics work.
Why it matters
Potential benefit: Could identify new genes and variants that explain human craniofacial birth defects and point toward improved diagnosis or future therapies.
How similar studies have performed: Related studies using zebrafish and other animal models have successfully linked genes to craniofacial development, but using Caribbean pupfish to find new human-relevant variants is relatively novel.
Where this research is happening
Berkeley, United States
- University of California Berkeley — Berkeley, United States (Active)
Researchers
- Principal investigator: Martin, Christopher Herbert — University of California Berkeley
- Study coordinator: Martin, Christopher Herbert
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.