How genes may cause biliary atresia
Modeling genetic contributions to biliary atresia
This project looks at how changes in a gene called PKD1L1 might lead to biliary atresia in babies and to later bile-duct inflammation.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Virginia Commonwealth University NIH-funded |
| Lab location | 1 site (Richmond, United States) |
| Project ID | NIH-11372330 on NIH RePORTER |
What this research studies
Researchers are comparing DNA from children with biliary atresia and related organ laterality differences to find gene changes, then modeling those changes in mice and in laboratory bile duct cells. They use mouse lines that lack the Pkd1l1 gene, cross them with other informative lines, and expose animals to different bile acid conditions to study bile duct development and inflammation. The team will compare findings from mice and lab models to human genetic data and liver samples from the ChiLDReN network to see if the same patterns appear in people. This approach aims to link specific gene defects to the bile duct damage seen in some infants.
Who could benefit from this research
Good fit: Babies and children diagnosed with biliary atresia, especially those with splenic malformations and laterality defects (BASM), would be most relevant to this work.
Not a fit: People without biliary atresia or those needing immediate surgical or medical care should not expect direct benefit from this basic and preclinical research.
Why it matters
Potential benefit: If successful, this could reveal genetic causes and biological steps that lead to biliary atresia and point to targets for future tests or treatments.
How similar studies have performed: Previous exome sequencing has found PKD1L1 mutations in some BASM patients and early mouse models have shown bile duct abnormalities, so this builds on promising but still early findings.
Where this research is happening
Richmond, United States
- Virginia Commonwealth University — Richmond, United States (Active)
Researchers
- Principal investigator: Karpen, Saul J. — Virginia Commonwealth University
- Study coordinator: Karpen, Saul J.
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.