|Dr. med. Ruxandra Bachmann-Gagescu
Institute for Molecular Life Sciences, University of Zurich
Research Focus: 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. Typical clinical presentations of ciliopathies include neurological involvement, retinal degeneration and renal fibrocystic disease, as illustrated by Joubert syndrome (JS), an iconic ciliopathy which is the main focus of our research. To understand the consequences of mutations in JS-associated genes at the molecular level, we combine observations from human genetics studies on JS-patients with modelling in the zebrafish system using state-of-the-art techniques such as crispr/Cas9 genome editing or live imaging of transgenically-tagged ciliary proteins.
Keywords: ciliopathies, primary cilia, Joubert syndrome, zebrafish
Topics: Development and Regeneration, Disorders of the nervous system