Finding genes that cause congenital diaphragmatic hernia
Functional Validation of Novel Variants Associated with Congenital Diaphragmatic Hernia
['FUNDING_R01'] · JACKSON LABORATORY · NIH-11187163
This project uses fast CRISPR gene-editing in mice to find which genetic changes are responsible for congenital diaphragmatic hernia in babies.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | JACKSON LABORATORY (nih funded) |
| Locations | 1 site (BAR HARBOR, UNITED STATES) |
| Trial ID | NIH-11187163 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates are infants or children with congenital diaphragmatic hernia (and their families) who can provide genetic samples and clinical information for research.
Not a fit: 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.
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 performed: 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
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.