Understanding how genes and environment affect diaphragm development and congenital hernias
Genetic and Environmental Regulation of Diaphragm Development and Congenital Diaphragmatic Hernias
This study is looking at how the diaphragm muscle, which helps us breathe, develops and what can go wrong to cause congenital diaphragmatic hernias (CDHs) in babies, using mice to learn more about the genes and environmental factors involved, so we can find better ways to prevent or treat this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Utah NIH-funded |
| Lab location | 1 site (Salt Lake City, United States) |
| Project ID | NIH-11074632 on NIH RePORTER |
What this research studies
This research investigates the development of the diaphragm, a crucial muscle for breathing, and how its defects can lead to congenital diaphragmatic hernias (CDHs), a serious birth defect. By using mouse genetics, the study aims to explore the role of specific genes, particularly Gata4, in diaphragm formation and the impact of environmental factors on this process. The researchers will create new genetic models that mimic human CDH to better understand the underlying mechanisms and potential interventions. This work is essential for developing strategies to prevent or treat CDH in affected infants.
Who could benefit from this research
Good fit: Ideal candidates for this research are expectant parents with a family history of congenital diaphragmatic hernias or those whose fetuses have been diagnosed with this condition.
Not a fit: Patients who do not have a diagnosis of congenital diaphragmatic hernias or related genetic conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved prevention and treatment options for congenital diaphragmatic hernias, potentially reducing morbidity and mortality in affected infants.
How similar studies have performed: Other research has shown success in understanding genetic factors in congenital defects, making this approach promising but still requiring further exploration.
Where this research is happening
Salt Lake City, United States
- University of Utah — Salt Lake City, United States (Active)
Researchers
- Principal investigator: Kardon, Gabrielle — University of Utah
- Study coordinator: Kardon, Gabrielle
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.