Elisabeth Ott Lab

Primary cilia are microtubule based cell organelles that play key roles in development and cell signaling. Defective cilia biogenesis and function lead to a large group of monogenically inherited diseases with variable phenotypic expression. In our lab we are interested in the identification and characterization of new candidates for cystic kidney disease and related ciliopathies. Using patient derived cells we study cilia-related defects and affected cell signaling processes. We use the zebrafish to determine in vivo functions of these genes and to further validate our cell-based data. Through a combination of clinical data, cell-based and zebrafish experiments we aim to increase our understanding of the ciliary protein network and the molecular mechanisms underlying human disease.