Ruxandra Bachmann-Gagescu

Our research focuses on a group of human Mendelian disorders called ciliopathies which are unified by shared genetic causes resulting in primary cilium dysfunction. Primary cilia are small non-motile organelles present on the surface of most vertebrate cells where they are involved in transduction of sensory, mechanical or chemical signals and in regulation of signalling pathways during development and cell homeostasis. To understand the consequences of mutations in JS-associated genes at the molecular level, we combine observations from human genetics studies and modeling in cell culture and the zebrafish model, relying on state-of-the art technologies such as CRISPR-gene editing and live imaging of fluorescently-tagged protein.