‘ESDN’, ‘EuroGrow’ and ‘SYBIL’

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‘ESDN’, ‘EuroGrow’ & ‘SYBIL’ – 15+ years of EU network approaches for diagnosis and research of rare skeletal diseases.

The European Skeletal Dysplasia Network (ESDN) was established in 2002 with EU FP5 funding as a pan-European research and diagnostic network for chondrodysplasias. ESDN was one of the first networks of expertise in rare diseases to use information and communication technologies for medical diagnosis. Between 2003-2013 ESDN has received over 2000 referrals through an on-line case-manager and 450 users have accessed ESDN from 45 different countries. ESDN successfully introduced a new paradigm to rare disease diagnosis and the international reach and impact of ESDN demonstrates how this network has transformed the diagnosis of genetic bone diseases worldwide.

EuroGrow (2007-2010) was funded by EU FP6 and provided proof-of-principle concept for a coordinated approach to studying disease mechanisms in rare skeletal diseases using genetic mouse models. The development of deep-phenotyping protocols and procedures for generating robust –omics profiles delivered important technical advances for these difficult disease and tissue systems.

Finally, EU FP7-funded SYBIL (2013-2018) is a large-scale collaborative project concentrating on the functional validation of genetic determinants of rare skeletal diseases and builds on the previous successes of ESDN and EuroGrow. In addition to refining disease mechanisms through deep-phenotyping of novel cell and animal models, SYBIL also has a strong translational component focused on developing new biomarkers and identifying therapeutic targets. This last approach will provide important new knowledge in preparation for Horizon2020.

See: www.ESDN.org & @ESDN_news; www.sybil-fp7.eu & @SYBIL_news

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