Understanding the genetic causes of frontonasal dysplasia
Official title: Molecular Basis of SIX2-related Frontonasal Dysplasia
Funded at Cincinnati Childrens Hosp Med Ctr · NIH-10794374 · Data updated 2026-11-12
This study is looking into how changes in a specific gene called SIX2 might cause frontonasal dysplasia, a condition that affects how the skull and face develop, to help improve diagnosis and treatment options for people with this condition.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cincinnati Childrens Hosp Med Ctr NIH-funded |
| Lab location | 1 site (Cincinnati, United States) |
| Project start | March 1, 2023 |
| Project end | February 28, 2026 |
| Funding year | 2024 |
| Award (this year) | $238,500 |
| NIH project number | 5R21DE032877-02 |
| Project ID | NIH-10794374 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 a family history of the condition.
✕Less likely to help
Patients without frontonasal dysplasia or related craniofacial disorders may not benefit from this research.
What this research studies
This research investigates the genetic underpinnings of frontonasal dysplasia (FND), a congenital condition that affects the development of the skull and facial features. By focusing on the SIX2 gene and its role in craniofacial development, the research aims to uncover the mechanisms that lead to FND. The study utilizes advanced genetic techniques, including CRISPR/Cas9, to explore how variations in the SIX2 gene contribute to this disorder. Patients with FND may benefit from improved diagnostic methods and potential therapeutic strategies based on the findings.
Why it matters
Potential benefit: If successful, this research could lead to better diagnosis and management options for patients with frontonasal dysplasia.
How similar studies have gone: Previous studies have shown promise in understanding genetic factors related to craniofacial disorders, suggesting that this approach could 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.