Investigating genetic factors in Van der Woude syndrome
Genetic modifiers of Van der Woude syndrome
This study is looking at the genes that might cause differences in symptoms for people with Van der Woude syndrome, which includes issues like clefts in the mouth and pits in the lower lip, to help families understand why some people have different experiences with the condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Emory University NIH-funded |
| Lab location | 1 site (Atlanta, United States) |
| Project ID | NIH-10673981 on NIH RePORTER |
What this research studies
This research focuses on understanding the genetic factors that influence Van der Woude syndrome (VWS), a condition characterized by orofacial clefts and lower lip pits. By analyzing genetic data from families affected by VWS and nonsyndromic orofacial clefts, the researchers aim to identify genetic mutations that contribute to the variability in symptoms among patients. The study employs whole genome sequencing and SNP genotyping to uncover these genetic modifiers, which could help clarify the relationship between genotype and phenotype in this condition.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Van der Woude syndrome or nonsyndromic orofacial clefts, particularly those who have not yet received a molecular diagnosis.
Not a fit: Patients with orofacial clefts not related to genetic factors or those with other unrelated conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved genetic counseling and personalized treatment options for patients with Van der Woude syndrome.
How similar studies have performed: Previous research has successfully identified genetic risk factors for nonsyndromic orofacial clefts, suggesting that this approach may yield valuable insights for Van der Woude syndrome as well.
Where this research is happening
Atlanta, United States
- Emory University — Atlanta, United States (Active)
Researchers
- Principal investigator: Leslie-Clarkson, Elizabeth Jane — Emory University
- Study coordinator: Leslie-Clarkson, Elizabeth Jane
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.