Gene changes linked to cleft lip and palate (ESRP1/2 and CTNND1)
Functional analysis of ESRP1/2 and CTNND1 gene variants in orofacial cleft
Looks at whether changes in two genes that guide palate cell development help explain some cleft lip and palate cases.
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 ID | NIH-11261235 on NIH RePORTER |
What this research studies
From a patient's perspective, this work tries to find out if specific changes in ESRP1/ESRP2 and CTNND1 cause problems when the mouth and palate form. Researchers gather human gene variants from large genome-sequencing projects and then test those variants in lab models (including mice and zebrafish) to see how the altered genes affect cells and RNA splicing. They focus on the periderm and oral epithelium, tissues that must form and fuse correctly for a normal palate. The team uses these functional results to classify which human variants are likely harmful versus benign.
Who could benefit from this research
Good fit: Ideal candidates are people or families affected by cleft lip or palate who have had genetic testing or carry suspected ESRP1, ESRP2, or CTNND1 variants.
Not a fit: People without cleft conditions or without variants in these specific genes are unlikely to benefit from this project.
Why it matters
Potential benefit: Could give families clearer genetic answers and better counseling about causes and risks of cleft lip and palate.
How similar studies have performed: Animal and cell studies have shown ESRP1/2 influence craniofacial development, but large-scale functional testing of human variants for clinical classification is still a newer approach.
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.