How neural crest genes shape facial development
Architecture and function of the neural crest genome
Researchers will learn how genome-structuring proteins help neural crest cells turn on the genes needed for normal face and head development, which could help people with craniofacial birth defects.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11266148 on NIH RePORTER |
What this research studies
This project focuses on neural crest cells, an early embryonic cell population that builds many parts of the face and head. Scientists will map how DNA folds and loops in these cells using chromatin conformation capture methods and will study the architectural proteins CTCF and YY1. They will disrupt these proteins in laboratory models to see how changes in chromatin loops affect gene activation and cell behavior. The team aims to identify the gene-regulatory circuits that, when altered, lead to craniofacial and other congenital malformations.
Who could benefit from this research
Good fit: People born with craniofacial malformations or families seeking genetic explanations for congenital facial differences would be most relevant to follow this research or consider participating in related sample-donation efforts.
Not a fit: Adults with acquired facial injuries, cosmetic concerns, or conditions unrelated to embryonic development are unlikely to receive direct benefit from this basic developmental study.
Why it matters
Potential benefit: If successful, this work could improve diagnosis and point to new targets for preventing or treating craniofacial birth defects.
How similar studies have performed: Previous studies have mapped enhancer-promoter networks in neural crest cells, but applying chromatin loop mapping specifically to CTCF and YY1 in this context is a newer and less-tested approach.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Simoes-Costa, Marcos — Boston Children's Hospital
- Study coordinator: Simoes-Costa, Marcos
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.