At a Glance
  • Status: Completed Consortium
  • Year Launched: 2008
  • Initiating Organization: CORDIS
  • Initiator Type: Government
  • No disease focus
  • Location: Europe


EUCILIA has put together a consortium that brings together scientists working on three different animals models (Xenopus, zebrafish and mouse) and methodologies (cell biology, molecular biology, biochemistry) to answer the biological question relating to the role cilia play in rare diseases such as BBS, OFDI, and NPHP. A better understanding of ciliary function and structure is likely to have an enormous impact both at the basic research level, by gaining more insight into the function of this organelle, and more significantly in the translation of this knowledge into understanding the clinical consequences of lack or dysfunction of cilia. The wide distribution of cilia in all cell types suggests that ciliary defects could have a broader role in modern human epidemics such as hypertension, obesity, and diabetes. We believe that the biological relevance and significance of the results obtained by this consortium will have implications that go far beyond the rare OFDI, BBS, and NPHP patients and may shed light on the mechanisms underlying the role of primary cilia in polycystic kidney disease paving the way to possible new therapeutic approaches.


The challenge and overall goal of the EUCILIA consortium has been to use BBS, OFD1, and NPHP syndromes as model systems to study the physiological role of primary cilia, with special emphasis on their role in the genitourinary tract and in the development of renal cysts. The consortium has been successful in generating, and making available to the scientific community, in vitro and in vivo models to study the physiological role of primary cilia and of OFD1, BBS, and NPHP proteins in the formation and function of the primary cilium. These tools will allow the analysis of the ciliary protein interaction network and of the downstream pathway in the absence of BBS, OFD1, or NPHP.

Structure & Governance

Managed by the Community Research and Development Information Service (CORDIS), a program of the European Commission


Funded under the European Commission (EC)'s Seventh Framework Programme (FP7)

Data Sharing

The consortium has generated a number of mutant phenotypes in mice, zebrafish, and Xenopus, which will be made available to the scientific community via a public website, once the data is published, useful to study the role of cilia-related protein in health and disease.


The EUCILIA project has:

1) generated in vivo models for the rare genetic conditions under study to establish a comprehensive list of phenotypic changes caused by abnormal BBS / OFD1 / NPHP functions;
2) developed in vitro models for BBS / OFD1 / NPHP proteins to identify signaling pathways involved in these rare genetic disorders;
3) uncovered the dynamics of BBS / OFD1 / NPHP trafficking and recruitment to the cilium to determine the basis of the pathophysiology of BBS / OFD1 / NPHP mutations;
4) determined the importance of BBS / OFD1 / NPHP function for renal homeostasis, to comprehend other renal disorders, such as polycystic kidney disease (PKD);
5) shed light on the role of BBS / OFD1 / NPHP proteins in Wnt signaling and tubulogenesis to identify, test and validate potential therapeutic agents.

Points of Contact

Irene MEARELLI, (Head Research Funds Area)
Tel.: +39-06-44015308
Fax: +39-06-44119228

Sponsors & Partners

University College of London

Universitaetsklinikum Freiburg

Fondazione Mario Negri Sud-Centro Di Ricerche Farmacologiche Eb Iomediche

Last Updated: 06/20/2017

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