Why the same gene change can cause different facial birth defects in children
The role of continuous phenotypic variation in structural defects of the face
Researchers are learning how small differences in gene activity can make children with the same genetic change have very different facial birth defects.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-11459861 on NIH RePORTER |
What this research studies
We're studying how genetic changes translate into a range of facial birth defects by following the steps from gene activity to facial development. Using mouse models with different versions of a key gene (FGF8), the team measures gene expression, downstream signaling, and resulting facial structure. They pay special attention to thresholds where small drops in gene activity suddenly cause large shifts in appearance and variability. The work aims to connect specific genetic changes to the variety of outcomes families see so that diagnoses and predictions can improve.
Who could benefit from this research
Good fit: Children with congenital craniofacial differences or families with known mutations that affect facial development (for example involving FGF8) would be most relevant for this research.
Not a fit: People whose facial differences are clearly due to non-genetic environmental causes or who need only immediate surgical care rather than genetic insight may not benefit directly from this work.
Why it matters
Potential benefit: If successful, this could help doctors better predict how severe a child's facial birth defect might be and inform more personalized counseling and care planning.
How similar studies have performed: Earlier work from this team in mice showed that lowering Fgf8 past a threshold produces large changes in facial outcomes, so this proposal builds on those animal-model findings to gain deeper mechanistic insight.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Marcucio, Ralph S — University of California, San Francisco
- Study coordinator: Marcucio, Ralph S
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.