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SYSCILIA, “A systems biology approach to dissect cilia function and its disruption in human genetic disease”

Primary cilia are basically signaling hubs, harboring amongst others the noncanonical WNT, Hedgehog,and PDGF signaling systems, and their disruption leads to striking developmental defects. Some ciliopathy-associated proteins have recently been revealed to be physically or functionally associated in several distinct groupings, with limited connections to other crucial biological processes. Early proteomics studies have also suggested a discrete repertoire of about 1000 proteins within the organelle (i.e. <5% of the proteome) that are still in need of organisation into pathways and networks. Small, relatively isolated systems are often targeted by systems biology approaches under the assumption that a limited set of molecules and interactions will be more tractable for modelling systems. Cilia are thus ideal organelles for systems biology as they can be regarded as semi-closed systems being both largely spatially and biologically separated from many other cellular structures and processes.

Scientific and technical objectives

Our overall objectives are to establish a paradigm for studying and modelling complex eukaryotic systems, to understand how system perturbation contributes to the modulation of clinical phenotypes, and to provide a better understanding of ciliary processes in biology and their associated diseases. Our objectives focus on all critical components of the systems biology process, namely:

  • assay development and application

  • data generation, handling and integration

  • model building and testing followed by refinement.

We also exploit the models to find new insights into biological mechanism and human disease, and to develop approaches for ciliotherapies.

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Correspondence to R Roepman.

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This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Roepman, R., Ueffing, M., Kremer, H. et al. SYSCILIA, “A systems biology approach to dissect cilia function and its disruption in human genetic disease”. Cilia 1 (Suppl 1), P41 (2012).

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