Identifying and validating new genetic variants linked to congenital diaphragmatic hernia
Official title: Functional Validation of Novel Variants Associated with Congenital Diaphragmatic Hernia
Funded at Jackson Laboratory · NIH-10942353 · Data updated 2026-11-12
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 start | September 7, 2024 |
| Project end | July 31, 2029 |
| Funding year | 2024 |
| Award (this year) | $757,089 |
| NIH project number | 1R01HD115718-01 |
| Project ID | NIH-10942353 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are infants diagnosed with congenital diaphragmatic hernia or those with a family history of the condition.
✕Less likely to help
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.
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.
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 gone: 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
-
Jackson Laboratory
Bar Harbor, United States Active
Researchers
- Principal investigator: Murray, Stephen a — Jackson Laboratory
- Study coordinator: Murray, Stephen a
Related research
Other NIH-funded projects on the same topics.
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Inhaled Nitric Oxide for Babies with CDH
A multi-center study tests whether stopping routine use of inhaled nitric oxide in newborns with congenital diaphragmatic hernia is safe and effective so care can be simpler and potentially better.
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Fetal tracheal aspirates to guide CDH therapies and timing for lung growth
A researcher is studying fetal tracheal samples from babies with congenital diaphragmatic hernia to figure out which treatments and timing could help their lungs grow better.
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Integrating growth models and preclinical data to improve CDH patch repair
A study to help babies with congenital diaphragmatic hernia by improving how surgical patches interact with growing tissues.
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Extracellular vesicles to boost fetal lung vessels in babies with diaphragmatic hernia
Aims to use tiny particles from stem cells to help growing lungs in babies with congenital diaphragmatic hernia before birth.
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Inhaled Nitric Oxide for CDH: A pragmatic, multi-center trial to guide care for newborns with congenital diaphragmatic hernia
This trial tests whether stopping routine inhaled nitric oxide use after birth helps seriously ill newborns with congenital diaphragmatic hernia.
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Finding genes that cause congenital diaphragmatic hernia
This project uses fast CRISPR gene-editing in mice to find which genetic changes are responsible for congenital diaphragmatic hernia in babies.
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.