Autosomal Recessive Polycystic Kidney Disease

Our lab is investigating ways to improve the understanding of autosomal recessive polycystic kidney disease (ARPKD), a common recessive form of polycystic kidney disease.

Our research on ARPKD focuses on genotype and phenotype studies and on the role of the protein product called fibrocystin.

Among our research highlights:

  • Our research team uses the NGS screening panel to analyze patients with ARPKD-like phenotypes and other recessive forms of polycystic kidney disease.
  • We recently made rapidly progressive PKD models by generating digenic mice and rats with no Pkhd1 and reduced Pkd1.
  • Analysis of trafficking and processing of fibrocystin is underway.