Rakesh Sindhi uncovered the genetic basis of a liver disease that occurs in newborns

A new Journal of Hepatology study identified gene variants associated with biliary atresia, a rare condition in babies that occurs when the ducts that carry bile from the liver are blocked, usually requiring liver transplant and lifelong immunosuppression.

To learn more about the genetic basis of this poorly understood condition, senior author Rakesh Sindhi, Raizman Haney Chair and Professor of Surgery in the School of Medicine, and his multi-institutional team performed the largest-ever genetic analysis of biliary atresia. They analyzed the genomes of 811 children with biliary atresia who had a liver transplant and 4,654 healthy individuals for comparison.

The director of pediatric transplantation research for UPMC Children’s Hospital of Pittsburgh found biliary atresia is associated with both common and rare mutations in 102 ciliogenesis and planar polarity effector genes, which are involved in communication and movement of cells, and their organization into bile ducts and blood vessels during embryonic development. Mutations in these genes contribute to other birth defects, including of the cardiovascular system, so the new findings could lead to strategies to prevent biliary atresia and beyond.