Understanding the genetic causes of frontonasal dysplasia
Official title: Genomic and Developmental Mechanisms of SIX2-Related Frontonasal Dysplasia
Funded at Cincinnati Childrens Hosp Med Ctr · NIH-11190931 · Data updated 2026-11-12
This study is looking into the genetic reasons behind frontonasal dysplasia, a condition that affects how the face develops, to help people understand what causes it and improve care for those affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cincinnati Childrens Hosp Med Ctr NIH-funded |
| Lab location | 1 site (Cincinnati, United States) |
| Project start | September 10, 2024 |
| Project end | May 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $622,607 |
| NIH project number | 5R01DE032558-02 |
| Project ID | NIH-11190931 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with frontonasal dysplasia or those with related craniofacial abnormalities.
✕Less likely to help
Patients without craniofacial disorders or those not affected by genetic variations related to frontonasal dysplasia may not benefit from this research.
What this research studies
This research investigates the genetic and developmental mechanisms behind frontonasal dysplasia, a congenital disorder affecting facial structure. By examining structural variations in the genome, particularly at Chromosome 2p21, the study aims to uncover how these variations disrupt gene expression and contribute to craniofacial malformations. The research utilizes advanced genomic techniques to analyze how these disruptions affect the development of facial features during embryogenesis. Patients with frontonasal dysplasia may benefit from insights gained into the underlying genetic causes of their condition.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential new treatments for patients with frontonasal dysplasia.
How similar studies have gone: Previous research has shown success in understanding genetic mechanisms of craniofacial disorders, suggesting that this approach may yield valuable insights.
Where this research is happening
-
Cincinnati Childrens Hosp Med Ctr
Cincinnati, United States Active
Researchers
- Principal investigator: Jiang, Rulang — Cincinnati Childrens Hosp Med Ctr
- Study coordinator: Jiang, Rulang
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.