New PKD Gene Discovered

Mayo Clinic researchers, collaborating with doctors from around the world, have identified a new gene, key in the development of PKD.

The gene is also significant in the diagnosis of Meckel-Gruber syndrome (MKS) and other rare genetic defects. Identifying this gene is important news for families with PKD, who can have their blood screened and seek genetic counseling.

PKD Foundation President and CEO Dan Larson commended the Mayo Clinic researchers for their significant discovery, which was funded, in part, by PKD Foundation grants.

"This is encouraging news for generations of families who suffer from polycystic kidney disease (PKD)," Larson said. "As with this discovery, the PKD Foundation looks forward to funding cutting edge research at the Mayo Clinic, the Indiana University School of Medicine and other prominent institutions to find a cure for PKD and improve the care and treatment of those it affects."

Mayo Clinic researcher Peter Harris, PhD, a member of the PKD Foundation’s Scientific Advisory Committee, was a principal investigator on the study, which is published in the latest edition of Nature Genetics.