How the ZEB2 gene shapes facial and nervous system development
The role of the transcriptional repressor ZEB2 in human neural crest cell formation and craniofacial pathology
This project looks at how changes in the ZEB2 gene affect early formation of facial bones, cartilage, teeth, and neural-crest–derived tissues in people with Mowat-Wilson Syndrome.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | State University of New York at Buffalo NIH-funded |
| Lab location | 1 site (Amherst, United States) |
| Project ID | NIH-11160798 on NIH RePORTER |
What this research studies
From your perspective, researchers will grow human stem-cell models that mimic early neural crest development and introduce or compare ZEB2 changes seen in patients. They will use CRISPR gene editing to model specific ZEB2 mutations and ATAC-seq to map how DNA accessibility and gene control are altered. The team will compare patient-derived and engineered cells to find molecular steps that go wrong in Mowat-Wilson Syndrome. Their goal is to explain why facial features, dental problems, and other symptoms vary between people with ZEB2 mutations.
Who could benefit from this research
Good fit: People with Mowat-Wilson Syndrome or known ZEB2 mutations, and families affected by related neural crest craniofacial birth defects, would be the most relevant candidates to contribute samples or take part if recruitment occurs.
Not a fit: People whose conditions are unrelated to ZEB2 or neural crest development are unlikely to see direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could reveal molecular causes of craniofacial and neural problems in Mowat-Wilson Syndrome and point to targets for future diagnostics or treatments.
How similar studies have performed: Animal models and cell studies have previously linked ZEB2 to neural crest defects and Mowat-Wilson Syndrome, but applying human neural crest cells with chromatin profiling and CRISPR modeling is a newer approach.
Where this research is happening
Amherst, United States
- State University of New York at Buffalo — Amherst, United States (Active)
Researchers
- Principal investigator: Charney, Rebekah — State University of New York at Buffalo
- Study coordinator: Charney, Rebekah
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.