Alagille syndrome, a genetic disease estimated to affect 1 in 30,000 individuals, is caused by mutations in the gene JAG1 in most cases. The mutations affect multiple organs including the liver where it often results in cholestasis, a condition in which the flow of bile from the liver stops or slows, leading to bile buildup that in time causes liver damage. Current treatments focus on delaying disease progression; the only cure for liver disease in Alagille syndrome is liver transplantation.
Leave A Comment