Our group studies the function of new genes in cystic kidney disease and related ciliopathies. Most cystic kidney disease and ciliopathy associated genes are known to encode for proteins localizing to the primary cilium.  Through NGS based and bioinformatics analyses Professor Bergmann at Limbach Genetics in Mainz has identified disease candidates for which no mutations in humans have been described so far. We use multidisciplinary approaches to study the function of these genes and their role in disease. In cell culture experiments (including knock-out and patient cells) we study signaling pathway effects and ciliary protein networks. We use the zebrafish as vertebrate model organism to study in vivo functions and to model human genotypes. Through these approaches we aim to get a better understanding of the underlying disease processes that may eventually help to identify new therapeutic targets.

UNI Freiburg Universitätsklinikum Freiburg DFG