This article is part of the supplement: Proceedings of the First International Cilia in Development and Disease Scientific Conference (2012)

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

R Roepman1*, M Ueffing2, H Kremer1, MA Huynen1, TJ Gibson3, N Katsanis4, GT Walz5, U Wolfrum6, B Franco7, RH Giles8, PL Beales9, CA Johnson10, OE Blacque11, M Pontoglio12, F Képès13, G Apic14, RB Russell15 and H Omran16

Author Affiliations

1 Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, the Netherlands

2 Medical Proteome Center, Center of Ophthalmology, University of Tuebingen, Germany

3 European Molecular Biology Laboratory, Heidelberg, Germany

4 Duke University Medical Cente, USA

5 Universitätsklinikum Freiburg, Germany

6 Johannes Gutenberg Universitaet Mainz, Germany

7 Telethon Institute of Genetics and Medicine, Naples. Italy

8 Universitair Medisch Centrum Utrecht, the Netherlands

9 University College London, UK

10 The Leeds Institute of Molecular Medicine, UK

11 University College Dublin, Ireland

12 Institut National de la Sante et de la Recherche Medicale, France

13 Centre National de la Recherche Scientifique, France

14 Cambridge Cell Networks Ltd., UK

15 Ruprecht-Karls Universitaet Heidelberg, Germany

16 Westfaelische Wilhelms Universitaet Muenster, Germany

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Cilia 2012, 1(Suppl 1):P41  doi:10.1186/2046-2530-1-S1-P41

The electronic version of this article is the complete one and can be found online at:

Published:16 November 2012

© 2012 Roepman et al; licensee 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.

Poster presentation

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. webcite