Autosomal Dominant Polycystic Kidney Disease

Dr. Harris' Polycystic Kidney Disease Laboratory is investigating autosomal dominant polycystic kidney disease (ADPKD) to help develop novel therapeutics to improve treatment for this common form of polycystic kidney disease.

Studies of autosomal dominant polycystic kidney disease by Dr. Harris' research team are focused on genetic analyses of human disease populations and animal models:

  • Autosomal dominant polycystic kidney disease is known to be genetically heterogeneous, with the PKD1 and PKD2 genes identified. A few families apparently unlinked to these genes have been described. Using mutation and linkage studies, Dr. Harris' lab is determining if there is a third ADPKD population.
  • The lab is developing methods to identify large mutational rearrangements to the PKD1 and the PKD2 genes that represent up to 5 percent of mutations.
  • The lab has completed mutation screening of a large ADPKD population involved in an imaging-based observational study known as CRISP. Genotype and phenotype analyses of this population are underway.
  • Specific populations with unusual disease manifestations, including early-onset kidney disease, mild kidney disease and severe liver disease are being analyzed for genotype and phenotype correlations.
  • The lab is determining the frequency of PKD1 and PKD2 in a geographically defined population of Olmsted County in Minnesota.
  • Dr. Harris' team is analyzing the fate of mutant PKD proteins (polycystin-1 and polycystin-2) in animal models of these disorders.