Executive Summary
Rare diseases (RD) registries have received particular attention among RD stakeholders in recent years, including patient advocacy groups, professional associations and government agencies. The creation of the International Rare Diseases Research Consortium (IRDiRC) in October 2010 has led to the definition of common aims and the launch of a preliminary strategic plan targeted at improving RD diagnostic biomakers and new therapies. Furthermore, this consortium’s principal objectives have also been designed to include horizontal actions, such as registries and biobanks, ontologies, ELSI questions, natural history of diseases and the use of -omics for developing biomarkers for RD.
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