Ruxandra Bachmann-Gagescu, Prof. Dr. med.
- Institute of Medical Genetics
- Head of the Genetics and Molecular pathogenesis of Ciliopathies Group
- University of Zurich
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Prof. Ruxandra Bachmann-Gagescu studied Medicine in Geneva, where she also completed training in Pediatrics before leaving for Seattle in the USA to specialize in Medical Genetics. During her Fellowship in Seattle, she started her research career, focusing 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 cellular 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 signaling pathways during development and cell homeostasis. Patients with ciliopathies often develop fibro-cystic renal disease. Work in the Bachmann-Gagescu lab, which she has established in Zurich upon her return from the USA thanks to an SNSF-Professorship, relies on zebrafish and human pluripotent stem cell models to understand the role of primary cilia during development and in human disease. In parallel to her research work, Prof. Bachmann-Gagescu leads the nephrogenetics clinic at the Institute of Medical Genetics of the University of Zurich, where she performs diagnostic analyses and provides genetic counseling for patients with inherited renal diseases.