How p63 gene changes cause birth defects
Modeling p63-associated human birth defects with systems developmental biology approaches
['FUNDING_R01'] · NORTHWESTERN UNIVERSITY · NIH-11175355
This project looks at how specific changes in the p63 gene lead to skin, limb, and cleft‑palate birth defects to help people with EEC-spectrum conditions.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | NORTHWESTERN UNIVERSITY (nih funded) |
| Locations | 1 site (CHICAGO, UNITED STATES) |
| Trial ID | NIH-11175355 on ClinicalTrials.gov |
What this research studies
The team uses mouse models that mirror the p63 changes seen in people, plus lab-grown cells and genetic tools like CRISPR, to reproduce the skin, limb, and cleft palate features of EEC syndrome. They compare different single-letter (point) mutations in the p63 DNA-binding domain to see which genes and regulatory enhancers lose control and how signaling pathways such as Wnt and EDAR are affected. By mapping changes in gene activity and chromatin accessibility during development, they aim to connect specific mutations with particular symptoms. Results are intended to highlight genetic markers and biological targets that could guide diagnosis and future therapies.
Who could benefit from this research
Good fit: Children and adults with known p63 mutations or with EEC-spectrum birth defects (ectodermal dysplasia, cleft lip/palate, or limb malformations) would be most relevant to this research.
Not a fit: People with birth defects not related to p63 mutations or with non-genetic causes likely would not receive direct benefit from this work.
Why it matters
Potential benefit: Could clarify why different p63 mutations cause different symptoms and point to targets for better diagnosis, counseling, and future treatments.
How similar studies have performed: Previous mouse and molecular studies have established p63 as essential for skin and limb development, but using specific p63 DNA-binding domain point‑mutation models to explain distinct human symptoms is a newer approach.
Where this research is happening
CHICAGO, UNITED STATES
- NORTHWESTERN UNIVERSITY — CHICAGO, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: YI, RUI — NORTHWESTERN UNIVERSITY
- Study coordinator: YI, RUI
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.