Prof. Dr. med. Ruxandra Bachmann-Gagescu
Area of Research
Description of Research Interest
Research in the Bachmann lab revolves around understanding how genetic variation leads to human disease, with a special focus on developmental disorders. Most of our work focuses on a group of Mendelian disorders called ciliopathies, which stem from dysfunction of primary cilia, quasi ubituitous cellular organelles involved in sensing signals from the cellular environment and transducing them to the cell to control cell behavior.
Ciliopathies affect multiple organ systems, in particular the CNS, the kidney and the retina, such that we focus on these 3 organs, using zebrafish and human iPSC-derived models to understand the role of cilia in development and disease. We apply a combination of assays, ranging from human genetic studies to functional assays in zebrafish over transcriptomic and proteomic experiments in iPSC-derived organoids or 2D culture systems. Our experiments also rely on advanced imaging systems, in particular life imaging. Beyond ciliopathies, we are generally interested in understanding phenotypic variability in Mendelian disorders and in integrating the effects of rare and common genetic variation to generate better predictions of clinical outcome.
Special Expertise
Expertise in our lab includes:
- genome editing to create models of human disease in zebrafish and human iPSCs
- zebrafish functional assays including Calcium imaging and electroretinograms
- iPSC differentiation into cerebral and renal organoids, or various 2D neuronal cultures
- life imaging of zebrafish larvae and iPSC-derived models
- transcriptomic analyses (bulk and single cell)
- proteomic analysis (MS/MS, proximity labeling)
- analysis of next generation sequencing results in humans (whole exomes, focus on rare variants)
Member of Collaborative/interdisciplinary Research Consortia
- UFSP - AdaBD (Adaptive Brain Circuits in Development and Learning) - steering committee member
- ZNZ (Zurich Neuroscience Center) member
- ZKC (Zurich Kidney Center) co-director
- PREDICT - European Joint Program For Rare Diseases - focus on identifying genetic modifiers in ciliopathies - consortium leader
