Our group studies the pathogenesis of polycystic kidney disease and the role of ciliary proteins. Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited diseases in man (incidence 1:1000).

The kidneys of affected individuals progressively enlarge with multiple fluid filled cysts and over half of the patients require dialysis or kidney transplantation before the age of 60. Mutations in 2 genes are responsible: Pkd1 (85% of cases), a large orphan receptor involved in multiple signal transduction pathways and Pkd2 (15% of cases), a non-selective cation channel of the transient receptor potential family (TRPP2). Both proteins interact and are linked to the primary cilium, a filiform microtubular organelle and signalling platform. In the past 15 years, mutations in ciliary proteins have been linked to a pleiotropic disease spectrum named the ciliopathies which next to PKD encompass disorders of the eye, the skeleton, the olfactory system, situs, bronchi, brain, reproductive system and metabolism.

Our aim is to gain insights into the pathogenesis of cyst formation and cilia related disorders. We study orthologous in-vivo and cell based models to study how the dysfunction of pkd proteins, cilia, and signalling events result in the cystic kidney disease phenotype. For this purpose we use proteomics, transcriptomics, gene editing and live cell imaging techniques in collaboration with Dr. Roland Nitschke at the Live Imaging Center (LIC, Center for Biological Systems Analysis, Freiburg).