معرفی
Prof. Dr. med. Ruxandra Bachmann-Gagescu is an Associate Professor in Developmental Genetics at the University of Zurich, leading a research group within the Department of Molecular Life Sciences and the URPP Adaptive Neural Circuits (AdaBD). Her work bridges human genetics, zebrafish models, and iPSC-based cellular systems to unravel the molecular basis of monogenic developmental diseases affecting the brain, kidney, and retina.
- Current focus: Ciliopathies (e.g., Joubert Syndrome) and their multisystem manifestations
- Clinical practice: Genetic diagnosis/counseling for inherited retinal/renal diseases
Research Highlights:
Her group investigates primary cilia—cellular antennae regulating signaling and homeostasis—through:
- Zebrafish mutants modeling CNS and retinal defects
- iPSC-derived 2D/3D models to study neuronal/kidney pathomechanisms
- Proteomic approaches to define cell-type-specific ciliary composition
The lab contributes to large-scale initiatives like the European PREDICT Consortium (genetic modifiers in ciliopathies) and PRAECLARE (variant interpretation assays).
Scientific Awards:
- SNSF Ambizione Fellowship (2012): Established her research niche in ciliopathies
- SNSF Professorship Grant (2017): Enabled independent lab leadership
Advising & Collaborations:
Mentors PhD and Master’s students in cilia biology and translational genetics. Collaborates with international experts in retinal disease (Sophie Saunier, Paris), kidney disorders (Carsten Wagner, Zurich), and bioinformatics (Pedro Beltrao, ETH Zurich).
Labs & Teams:
Based at the University of Zurich Irchel Campus (Y13-K-48/Y13-K-03), her team includes postdocs (Markus Masek), PhD students (Ellen Aarts, Arianna Cuoco), and lab manager Claudia Hofmann. Projects span zebrafish genetics, human iPSC differentiation, and clinical-genetic correlations.
