Identifying genes linked to orofacial clefts using genetic data
Rare variant analysis integrating large public DNA sequencing controls and gene expression data for discovering novel predisposition genes of orofacial clefts
This study is looking at the genes that might cause orofacial clefts, like cleft lip and palate, to help us understand these conditions better and find ways to diagnose and treat them earlier for those who are affected.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Mayo Clinic Rochester NIH-funded |
| Lab location | 1 site (Rochester, United States) |
| Project ID | NIH-11125052 on NIH RePORTER |
What this research studies
This research investigates the genetic factors that contribute to orofacial clefts, such as cleft lip and palate, by analyzing large datasets of DNA sequences and gene expression. The study aims to identify rare genetic variants that may predispose individuals to these conditions, utilizing a combination of genetic burden analyses and transcriptomics data from various sources. By integrating information from thousands of samples, the research seeks to enhance our understanding of the genetic basis of orofacial clefts, which could lead to earlier diagnosis and targeted therapies for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research include children under the age of 11 who have been diagnosed with orofacial clefts.
Not a fit: Patients with orofacial clefts who are over the age of 11 or do not have a genetic predisposition may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to earlier diagnosis and more effective treatments for children with orofacial clefts.
How similar studies have performed: Previous research has shown promise in identifying genetic factors associated with other congenital conditions, suggesting that this approach may yield valuable insights.
Where this research is happening
Rochester, United States
- Mayo Clinic Rochester — Rochester, United States (Active)
Researchers
- Principal investigator: Chen, Wenan — Mayo Clinic Rochester
- Study coordinator: Chen, Wenan
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.