| PROF. RUXANDRA BACHMANN-GAGESCU |
| Ruxandra Bachmann-Gagescu is an SNF assistant professor at University of Zurich, and one of the newest members of the NCCR Kidney.CH. |
| She currently heads a research group at the institute of medical genetics with a focus on ciliopathy modelling. We asked her about her current research and plans for the future. |
| WE’RE DELIGHTED TO HAVE YOU AS PART OF THE NCCR! WHAT PROJECTS ARE YOU PLANNING TO PURSUE AS A MEMBER? |
The main aim of our project within the scope of the NCCR Kidney.ch is the development of renal organoids derived from human induced pluripotent stem cells (hiPSC). This model system will be applied to studying the role of primary cilia in renal tubular cells and cystogenesis. In addition, the establishment of kidney organoids can be of interest to all researchers of the NCCR Kidney.CH, and can serve as a platform for future collaborations.
A second contribution to the NCCR Kidney.CH will be my participation in the genetic analysis of data from the Swiss Kidney Stone Cohort. |
| WHAT LED YOU TO YOUR CURRENT LINE OF RESEARCH? |
| A combination of interests and fate… While I was searching for a research topic for my fellowship in medical genetics at the University of Washington in Seattle, my former mentor Cecilia Moens (a developmental biologist studying hindbrain development) and my mentor-to-be Dan Doherty (who has one of the largest cohort of patients with Joubert syndrome, a ciliopathy characterized by a specific hindbrain malformation) were starting a collaboration to study a newly identified Joubert gene in zebrafish. Based on my interests and skills, I was the obvious candidate to take on this project; so I suppose I was in the right place at the right moment! |
| YOUR WORK FOCUSES ON CILIOPATHIES, PARTICULARLY IN THE KIDNEY AND THE RETINA. WHAT DO YOU FIND INTERESTING ABOUT CILIA? |
| Primary cilia are like the cell’s antenna; they’re responsible for sensing outside signals and for regulating their transduction into the cell, whereby the type of signal depends on the cell type and on the developmental stage. Examples include such different signals as light in retinal photoreceptors or transduction of key developmental signaling pathways, including hedgehog and Wnt signaling. Consequently, cilia are involved in a very wide range of developmental and biological processes. The study of primary cilia provides a research focus at the crossroads between genetics, developmental biology and molecular biology, which I find fascinating. From a genetics point of view, the disorders caused by ciliary dysfunction (collectively termed “ciliopathies”) are perfect models to study key open questions in human genetics, such as the mechanisms underlying phenotypic variability in monogenic disorders. |
| WHAT ORGANISMS DO YOU USE FOR MODELLING? |
| Besides the hiPSC-based models we are currently establishing in the lab, our main research model is the zebrafish, which is an excellent model for ciliopathies. We have generated a collection of zebrafish mutants in ciliary genes, and we combine techniques such as live imaging of tagged proteins of interest in a whole tissue context (favored by the transparency of the larvae) with modern -omics approaches. |
| WHERE DO YOU HOPE THIS RESEARCH WILL LEAD? |
| As a medical geneticist, my overarching goal is to understand the path leading from genetic variation to human disease, in order to provide patients with more accurate predictions of their disease course and hopefully to develop therapies to alleviate or cure their symptoms. To achieve this goal, I believe that a combination of models has the highest chance of providing relevant insights. The combination of approaches allying human genetic studies, animal models such as the zebrafish, and now in vitro models on human cells appears to be a promising path that will hopefully lead to a deeper understanding of the pathomechanisms underlying these diseases. In the end, I hope to be able to bring back to the patients the insights we have gained in order to provide better care. |
| WHAT DO YOU LIKE TO DO WHEN YOU’RE NOT IN THE LAB? |
| Being an outdoor-oriented person, I love hiking, camping, skiing or cycling with my husband and three children. When allowed to do so (…), we above all enjoy traveling the world to discover wild animals, forests, mountains, rivers, lakes and seas in remote places. Besides this, I enjoy a good book, a play or dance performance, a good movie or a nice documentary, to travel at least mentally. |
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| Ruxandra Bachmann-Gagescu is a medical geneticist who recently joined the NCCR Kidney.CH. |
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