Finding genes that cause congenital diaphragmatic hernia
Official title: Functional Validation of Novel Variants Associated with Congenital Diaphragmatic Hernia
Funded at Jackson Laboratory · NIH-11187163 · Data updated 2026-11-12
This project uses fast CRISPR gene-editing in mice to find which genetic changes are responsible for congenital diaphragmatic hernia in babies.
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 | 2025 |
| Award (this year) | $736,062 |
| NIH project number | 5R01HD115718-02 |
| Project ID | NIH-11187163 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are infants or children with congenital diaphragmatic hernia (and their families) who can provide genetic samples and clinical information for research.
✕Less likely to help
Patients whose CDH is caused by non-genetic factors or who need immediate clinical therapies are unlikely to get direct, immediate benefit from this basic validation work.
What this research studies
Researchers will use genetic data from children with congenital diaphragmatic hernia (CDH) to pick candidate gene variants. They will create rapid CRISPR/Cas9-edited founder mice to see if those variants produce diaphragm and lung problems like human CDH. This quick validation platform shortens the usual mouse-model timeline from over a year to a few months so many genes can be screened. Validated genes will help explain why some infants develop CDH and guide future diagnostic and treatment research.
Why it matters
Potential benefit: If successful, this work could reveal genetic causes of CDH that improve diagnosis, genetic counseling, and point to new treatment directions.
How similar studies have gone: Large-scale sequencing has nominated many CDH candidate genes but only about 25 have been reproducibly validated, and rapid CRISPR founder-mouse validation is a newer but promising method to confirm more genes.
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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Understanding lung development in babies with congenital diaphragmatic hernia
This work aims to uncover why the lungs of babies with congenital diaphragmatic hernia do not develop properly.
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.