Investigating gene variants linked to orofacial clefts
Functional analysis of ESRP1/2 and CTNND1 gene variants in orofacial cleft
['FUNDING_R01'] · CHILDREN'S HOSP OF PHILADELPHIA · NIH-11009912
This study is looking at how certain genes might play a role in causing orofacial clefts, which are common birth defects affecting the mouth and face, to help improve diagnosis and treatment for those who have these genetic changes.
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-11009912 on ClinicalTrials.gov |
What this research studies
This research focuses on understanding the genetic factors that contribute to orofacial clefts, which are common congenital birth defects. It aims to identify specific gene variants in the ESRP1/2 and CTNND1 genes that may affect palate formation and craniofacial development. By using advanced computational methods and functional studies, the research seeks to clarify how these gene variants influence the risk of developing orofacial clefts. Patients with these genetic variants may benefit from improved diagnostic tools and targeted interventions.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with a family history of orofacial clefts or those diagnosed with these conditions.
Not a fit: Patients without any genetic predisposition to orofacial clefts or those who do not have the specific gene variants being studied may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better genetic diagnostics and personalized treatment options for patients with orofacial clefts.
How similar studies have performed: Previous research has shown promise in identifying genetic factors associated with congenital defects, suggesting that this approach could yield valuable insights.
Where this research is happening
PHILADELPHIA, UNITED STATES
- CHILDREN'S HOSP OF PHILADELPHIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: LIAO, ERIC CHIEN-WEI — CHILDREN'S HOSP OF PHILADELPHIA
- Study coordinator: LIAO, ERIC CHIEN-WEI
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.