Identifying and validating new genetic variants linked to congenital diaphragmatic hernia
Functional Validation of Novel Variants Associated with Congenital Diaphragmatic Hernia
This study is looking at congenital diaphragmatic hernia (CDH), a birth defect that can cause breathing problems in babies, and it aims to find new genetic clues that could help us understand and treat this condition better, using special technology to test these clues in mice.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jackson Laboratory NIH-funded |
| Lab location | 1 site (Bar Harbor, United States) |
| Project ID | NIH-10942353 on NIH RePORTER |
What this research studies
This research focuses on congenital diaphragmatic hernia (CDH), a serious birth defect affecting the diaphragm, leading to severe respiratory issues in infants. The team aims to discover and validate new genetic variants associated with CDH using advanced CRISPR/Cas9 technology, which allows for rapid testing in mouse models. By identifying these genetic factors, the research seeks to enhance our understanding of CDH and improve potential treatment options for affected infants. The study will leverage genome data from a large cohort to ensure comprehensive analysis.
Who could benefit from this research
Good fit: Ideal candidates for this research are infants diagnosed with congenital diaphragmatic hernia or those with a family history of the condition.
Not a fit: Patients with congenital diaphragmatic hernia who do not have a genetic component or those outside the age range of 0-11 years may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostic tools and targeted therapies for infants born with congenital diaphragmatic hernia.
How similar studies have performed: Previous research using CRISPR technology for genetic validation in other congenital conditions has shown promising results, indicating a potential for success in this novel approach.
Where this research is happening
Bar Harbor, United States
- Jackson Laboratory — Bar Harbor, United States (Active)
Researchers
- Principal investigator: Murray, Stephen a — Jackson Laboratory
- Study coordinator: Murray, Stephen a
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.