Understanding the genetic factors behind craniofacial abnormalities
Functional characterization of craniofacial enhancers at single cell and single base pair resolution
['FUNDING_R01'] · CHILDREN'S HOSP OF PHILADELPHIA · NIH-11091751
This study is looking at how genes and their control can lead to facial birth defects in kids, using advanced techniques to better understand the early development of these conditions, which could help find new ways to treat them.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | CHILDREN'S HOSP OF PHILADELPHIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-11091751 on ClinicalTrials.gov |
What this research studies
This research investigates the genetic and regulatory elements that contribute to craniofacial abnormalities, which are common birth defects affecting many children. By analyzing human craniofacial tissue and using advanced single-cell techniques, the study aims to identify specific cell types and their regulatory functions during early development. The researchers will focus on understanding how gene regulation, rather than just genetic mutations, plays a role in these conditions. This approach could lead to better insights into the causes of craniofacial defects and potential therapeutic targets.
Who could benefit from this research
Good fit: Ideal candidates for this research are children born with craniofacial abnormalities or those at risk of developing such conditions.
Not a fit: Patients with craniofacial abnormalities that are solely due to known genetic mutations without regulatory involvement may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved prevention and treatment strategies for craniofacial abnormalities in children.
How similar studies have performed: Previous research has shown promise in understanding genetic regulation in other birth defects, suggesting that this approach may yield valuable insights.
Where this research is happening
PHILADELPHIA, UNITED STATES
- CHILDREN'S HOSP OF PHILADELPHIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: COTNEY, JUSTIN LEE — CHILDREN'S HOSP OF PHILADELPHIA
- Study coordinator: COTNEY, JUSTIN LEE
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.