How genes may cause biliary atresia
Official title: Modeling genetic contributions to biliary atresia
Funded at Virginia Commonwealth University · NIH-11372330 · Data updated 2026-11-12
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 start | June 15, 2023 |
| Project end | April 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $588,673 |
| NIH project number | 5R01DK135815-04 |
| Project ID | NIH-11372330 on NIH RePORTER |
Who could benefit from this research
✓Could help
Babies and children diagnosed with biliary atresia, especially those with splenic malformations and laterality defects (BASM), would be most relevant to this work.
✕Less likely to help
People without biliary atresia or those needing immediate surgical or medical care should not expect direct benefit from this basic and preclinical research.
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.
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 gone: 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
-
Virginia Commonwealth University
Richmond, United States Active
Researchers
- Principal investigator: Karpen, Saul J. — Virginia Commonwealth University
- Study coordinator: Karpen, Saul J.
Related research
Other NIH-funded projects on the same topics.
-
Genetic factors in virus-related biliary atresia in children
A study to understand how viral infections may trigger biliary atresia in very young children and how genetics influence this process.
-
MMP7-Positive Liver Cells Driving Fibrosis in Biliary Atresia
This study explores a specific liver cell type marked by MMP7 to understand why scarring progresses in biliary atresia and how it might be slowed.
-
Bifidobacterium breve to support bile flow in infants with cholestasis and biliary atresia
A tiny study in babies with biliary atresia or related cholestasis tests a safe probiotic supplement (B. breve) to help bile flow after a surgical procedure.
-
Mechanisms of neutrophil NETs and their role in biliary fibrosis in biliary atresia
A study to understand how certain white blood cells and their networks contribute to scarring in the bile ducts of infants with biliary atresia.
-
Understanding how immune cells contribute to liver scarring in infants with biliary atresia
This research explores how certain immune cells called neutrophils cause liver scarring in babies born with biliary atresia.
-
Investigating the role of the microbiome in biliary atresia
This study is looking at how the bacteria in the gut might affect the health of babies with biliary atresia, a liver condition, by collecting stool samples to see if there are differences between those who do and don’t have successful bile flow after surgery, with the hope of finding ways to improve their care.
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.