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EUCILIA in brief

Project full title
Pathophysiology of Rare Diseases due to Ciliary Dysfunction:
Nephronophthisis, Oral-facial-digital type 1 and Bardet-Biedl Syndromes.

Primary cilia dysfunction underlies an emerging group of diseases: the ciliopathies. Among them are the heritable Bardet-Biedl (BBS), Oral-facial-digital type I (OFDI) and nephronophthisis (NPHP) syndromes. Each of these disorders present with defining features but collectively display overlapping manifestations, such as pigmentary retinopathy, polydactyly, and polycystic renal disease. The proteins encoded by the genes responsible for these disorders, as well as those implicated in heritable forms of cystic kidneys, are all located to the cilium/basal body/centrosome complex, suggesting that ciliary dysfunction might be the unifying pathogenic concept underlying cystic kidney disease. The molecular mechanisms behind ciliopathies remain largely unknown. > [Page Ciliopathies]

Project mission
EUCILIA has the mission of contributing to the understanding of the physiological role of primary cilia in disorders due to ciliary dysfunction, such as BBS, OFDI and NPHP syndromes. Special emphasis is given to the role of these organelles in the genitourinary tract and in the development of renal cysts. The tools already available and those generated within the project will allow identification, testing and validation of potential therapeutic agents for the amelioration and prevention of renal cysts – a major cause of morbidity and mortality in this group of patients. In addition, the project builds on the excellence and competitiveness of European laboratories in the field of ciliopathies.
[Pages Project + Aims + Impact]

The EUCILIA consortium gathers multi-disciplinary skills (state of the art
in vitro and cell biology methodology) of four European groups (the Partners) that have greatly contributed to our current knowledge on the basis and phenotype of the three ciliopathies under study, namely OFD (Partner 1), BBS (Partner 2) and NPHP (Partner 3). Partner 4 complements this expertise by being a pioneer in the development of new approaches based on advanced light- and electron microscopy-based imaging. The consortium as a whole will allow tackling the pathophysiology at the basis of
OFDI, BBS and NHPH utilizing diverse animal models, such as mouse, zebrafish and Xenopus. > [Page Partners]

EUCILIA is a Collaborative Project (Small or medium-scale focused research project) funded by the European Commission
within its Seventh Framework Programme Priority under the thematic area “Natural course and pathophysiology of rare diseases” (FP7-HEALTH-2007-A). Contract number and title: 201804 – Pathophysiology of Rare Diseases due to Ciliary Dysfunction: Nephronophthisis, Oral-facial-digital type 1 and Bardet-Biedl Syndromes. Duration: 3 years.