New research from Yale University reveals four genes linked to cystic diseases of the liver and kidney. These findings provide a more complete definition of the spectrum of dominant human polycystic diseases. Researchers need to identify which gene mutations cause the disease in order to diagnose and find treatments for a genetic disorder. Polycystic kidney disease (PKD) is a common and often devastating genetic disease that results in cysts in both the liver and kidney. Cysts are pockets of fluid in an organ that develop over time and crowd out the normal functioning parts. The more common form of polycystic kidney disease, which affects adults and approximately half of their children, typically leads to kidney failure by the sixth decade of life. It is caused by mutations in the genes PKD1 or PKD2. The more rare juvenile form is caused by mutations inherited from both parents in a gene called PKHD1. Read more