Autosomal Dominant Polycystic Kidney Disease

Our lab is investigating autosomal dominant polycystic kidney disease (ADPKD) to help develop novel therapeutics to improve treatment for this common form of PKD.

Studies of ADPKD by our research team focus on genetic analyses of human disease populations and animal models:

• Autosomal dominant polycystic kidney disease is known to be genetically heterogeneous, with PKD1 and PKD2 being the major genes. Led by Dr. Harris, our team recently used next-generation sequencing (NGS) approaches to identify other rare causes of ADPKD-like diseases. More genes are now being sought.
• Our lab uses an NGS panel of 136 genes for routine screening of patients with PKD and ciliopathies.
• We're conducting genotype and phenotype studies to define genic and allelic effects.
• Ultra-low penetrant alleles, such as PKD1 and Arg3277Cys (RC), have been characterized. These can cause very early-onset ADPKD through biallelic inheritance with a typical allele.
• An animal model mimicking the AC allele (Pkd1^rc/rc) has been generated and used for preclinical testing.
• We're analyzing the trafficking and roles of wild type and mutant PKD proteins (polycystin-1 and polycystin-2) in animal models of these disorders.