How tiny genetic differences change facial birth defects
The role of continuous phenotypic variation in structural defects of the face
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · NIH-11237050
This work looks at why children with the same genetic change can have very different facial birth differences, using lab and animal models to find when small gene changes cause big effects.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, SAN FRANCISCO (nih funded) |
| Locations | 1 site (SAN FRANCISCO, UNITED STATES) |
| Trial ID | NIH-11237050 on ClinicalTrials.gov |
What this research studies
This research uses mouse models and laboratory experiments to study how varying levels of a key developmental gene (Fgf8) alter face formation. The team creates a range of gene activity and measures when small reductions produce large shifts in average facial shape and in how much outcomes vary. They also examine interactions with other genes and signaling pathways that make some individuals more or less sensitive to the same mutation. The long-term aim is to link specific genetic changes to the range of facial outcomes seen in children with genetic conditions.
Who could benefit from this research
Good fit: Ideal candidates would be children with craniofacial birth differences and families with known or suspected mutations in genes that control facial development (for example, genes in the FGF pathway).
Not a fit: Children whose facial differences are caused by non-genetic factors (such as trauma) or by genes unrelated to the pathways studied may not see direct benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could help explain why children with the same mutation look and respond differently, improving diagnosis, prognosis, and targeting of future treatments.
How similar studies have performed: Previous animal work, including an Fgf8 allelic series, showed threshold effects where small drops in gene expression lead to large phenotypic changes, but applying these findings to explain human variation remains new.
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.