Autosomal Recessive Polycystic Kidney Disease

Dr. Harris' research team in the Polycystic Kidney Disease Laboratory is also focused on improving the understanding of autosomal recessive polycystic kidney disease (ARPKD), an uncommon form of polycystic kidney disease.

The lab's research on autosomal recessive polycystic kidney disease focuses on genotype and phenotype studies and on the role of the related protein, PKHDL1:

  • Dr. Harris' research team has developed a mutation screening method of the large ARPKD gene, PKHD1, which is now available as a clinical test through a Mayo Clinic laboratory. The lab continues to analyze this data for genotype and phenotype correlations.
  • Dr. Harris and his colleagues are developing and characterizing animal models of autosomal recessive polycystic kidney disease.
  • The Polycystic Kidney Disease Lab is developing a mouse model that disrupts PKHDL1, a homologous gene to PKHD1 that has no known function.