Understanding the causes of craniofacial birth defects
Mechanisms underlying the multifaceted basis of craniofacial dysmorphogenesis
This study is looking at how genes and the environment can affect the development of facial and skull features in babies, with the goal of better understanding these common birth defects to help improve diagnosis and treatment for those who are affected.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Texas at Austin NIH-funded |
| Lab location | 1 site (Austin, United States) |
| Project ID | NIH-10851842 on NIH RePORTER |
What this research studies
This research investigates the genetic and environmental factors that contribute to craniofacial dysmorphologies, which are common birth defects affecting the face and skull. The approach involves studying the normal genetic hierarchies and cell signaling processes that guide craniofacial development, as well as how disruptions in these processes can lead to abnormalities. By examining both genetic and environmental influences, the research aims to fill gaps in knowledge about craniofacial development and improve diagnosis and treatment options for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with craniofacial dysmorphologies or those with a family history of such conditions.
Not a fit: Patients with craniofacial abnormalities that are solely due to known syndromic causes may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for individuals with craniofacial birth defects.
How similar studies have performed: Previous research has shown promise in understanding genetic and environmental interactions in other developmental disorders, suggesting potential for success in this area as well.
Where this research is happening
Austin, United States
- University of Texas at Austin — Austin, United States (Active)
Researchers
- Principal investigator: Eberhart, Johann K — University of Texas at Austin
- Study coordinator: Eberhart, Johann K
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.