Bone Abstracts

Between 5000 and 8000 rare diseases affect the daily lives of around 30 million people in the EU. Many of those affected by a rare or complex conditions frequently undergo to late diagnosis and inadequate care and do not have access to high quality treatment. European reference networks (ERNs) for rare diseases should serve as research and knowledge centres, updating and contributing to the latest scientific findings, treating patients from other Member States and ensuring the availability of subsequent treatment facilities where necessary. The networks will also foster collaborative research and facilitate translation of research into care driving innovation for new research development and therapeutical approaches to address true patients unmet needs. To this aim, ERNs are working in close collaboration with patient organisations. The backbone instruments that support research and leverage networking synergy are interoperability and harmonization. This term means in general ‘to operate together to achieve a common goal’. It complies standardization, integration, cooperation and synergy. All these elements have a key role in speed up research activities intra-ERN and inter-ERNs. One goal of ERNs is the improvement of the overall quality and value of research at European level, in a cluster of orphan diseases with similar needs, achieved by complementing, supporting and providing added value to the existing studies and projects and exchanging expertise among partners. A better and more innovative research needs bio-specimens exchange, data integration, sharing of protocols, individuation of SOPs and guidelines to obtain harmonized biobanking procedures, interoperable registries and databases, unique epidemiological definitions, unanimous lab protocols and guidelines allowing researcher to optimize diseases studies and to innovate research approach. Same importance has the pooling of expertise and knowledge for training and education of health professionals and patients. As a matter of fact, the contribution to continuous education, training, development and maintenance of competence of all stakeholders (both researchers and patients) is of undeniable relevance. This exchange of resources can be covered more effectively thanks to ERNs contribution and their tight collaboration with patients’ associations.

Disclosure: The authors declared no competing interests.