Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Autosomal Recessive Polycystic Kidney Disease (ARPKD)

The focus of our ARPKD research is on genotype/phenotype studies and on the role of a related protein PKHDL1:

  1. We have developed a mutation screening method of the large ARPKD gene, PKHD1, which is now available as a clinical test through the Mayo Genetic Diagnostic Laboratory. We continue to analyze this data for genotype/phenotype correlations.
  2. My colleague, Dr. Ward, is developing and characterizing animal models of ARPKD.
  3. We are developing a mouse model that disrupts, PKHDL1, a homologous gene to PKHD,1 but with no known function.