Investigating gene variants linked to orofacial clefts
Official title: Functional analysis of ESRP1/2 and CTNND1 gene variants in orofacial cleft
Funded at Children's Hosp of Philadelphia · NIH-11009912 · Data updated 2026-11-12
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
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | February 15, 2023 |
| Project end | January 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $613,306 |
| NIH project number | 5R01DE032332-03 |
| Project ID | NIH-11009912 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with a family history of orofacial clefts or those diagnosed with these conditions.
✕Less likely to help
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.
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.
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 gone: 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
-
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
Related research
Other NIH-funded projects on the same topics.
-
Emotional and biobehavioral links in parent-infant closeness
A program to understand how parent and baby feel and react to each other in early life, with the goal of guiding better child social and emotional development.
-
Leukodystrophy Clinical Careers and Mentorship Network
A program to train, mentor, and support clinicians and researchers to advance care for people with leukodystrophies.
-
Role of ATP1A3 mutations in sudden death related to epilepsy
Aims to understand how ATP1A3 gene changes may lead to sudden death in kids with epilepsy and is exploring new ways to prevent it.
-
Kids First Data Resource Center: cloud-enabled data sharing for childhood cancer research
A data resource project that makes pediatric cancer data and analyses more accessible to researchers, with the goal of advancing understanding and care for children with cancer.
-
PROMISE: A Network for Real-World Evidence in Rare Pediatric Cancers
A network will collect and harmonize pediatric cancer patient records from multiple centers to create high-quality real-world data that can support quicker, regulatory-ready insights when randomized trials aren’t feasible.
-
Data Hub Core for Down syndrome research
A data hub project is building a big, interoperable platform to securely share and analyze information from people with Down syndrome and related conditions.
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.