2 PhD positions
are available in the framework of the Marie Curie Innovative Training Network (ITN) on
Training researchers for Studying Ciliary Signalling in Development and Disease (SCilS)
Primary cilia are microtubule-based projections from the cell surface of nearly every cell in our body. In the last two decades it has become clear that primary cilia have evolved to be key signalling hubs of the cells, as they concentrate or segregate components of major cellular signalling pathways. Dysfunctional cilia can lead to over 35 severe human genetic traits (ciliopathies) with highly heterogeneous, overlapping phenotypes, affecting as many as 1 in 400 people. We now know that humans critically depend on cilia to see, hear, smell, breathe, excrete and reproduce. Such activities require a high degree of regulation and critical feedback to ensure robustness in development and cellular homeostasis of different tissues and organs.
Nijmegen: ESR8 will use three selected Joubert syndrome patient-derived hiPSCs from ciliary protein modules that are differentially localized across the ciliary axoneme, as well as isogenic CRIPSR/Cas9-edited lines for neuronal network measurements using microelectrode arrays (MEAs) and generate a developmental network MEA fingerprint that functionally describes the properties of the neural signalling circuits.
Paris: ESR10 will use cellular and omics analyses (transcriptomic and proteomic) in CRISPR invalidated epithelial cells or urinary epithelial renal cells collected from patients to characterize the pathophysiological processes and determine common and specific signaling pathways altered in patients with NPH. ESR10 will use inhibitors/activators and biosensors (FRET) of the altered pathways to examine their role in NPH-associated phenotype in iPSC-derived kidney organoids and animal models (zebrafish, mouse)
ESR8 - Radboud University Medical Centre Nijmegen, The Netherlands
The role of Joubert syndrome-associated proteins in neuronal development
ESR10 - Institut Imagine, Paris, France
Identification of altered signalling pathways in patients with renal ciliopathies