The International Summer School on Rare Disease Registries and FAIRification of Data was part of a series of training activities proposed by the European Joint Programme on Rare Diseases (EJP RD). The course consisted of five days of residential training, organized by the Istituto Superiore di Sanità (ISS) in close collaboration with EJP RD task partners, including [LUMC & UoG (Endo-ERN), IOR (Bond-ERN), HSK (Metab-ERN), EURORDIS, ISCIII, LUMC, INSERM (RaDiCo), UMCG, DTL-Projects (ELIXIR-NL), CNR (ELIXIR-IT), AMC].

The course took place from 23 to 27 September 2019 at the Istituto Superiore di Sanità (Aula Rossi, Via Giano della Bella, 34 – Rome, Italy) and included two training modules:

• The first module, “Rare Disease Registries” (23–25 September), in which participants learned what resources were needed for the establishment and maintenance of a high-quality registry, as well as the features of successful strategies to ensure long-term sustainability, quality, and legal and ethical compliance with the EU General Data Protection Regulation and FAIR principles;
• The second module, “FAIRification of Data” (26–27 September), where participants worked to make use-case data FAIR. The potential of a FAIR registry, as the basis for cross-resource questions, was demonstrated by executing a query across FAIR use cases. This part also included a dedicated time slot for discussing FAIR data management and FAIR project planning.

The Summer School was characterized by a mixed learning method, alternating plenary presentations and problem-based learning with hands-on experiences (Bring Your Own Data – BYOD) and breakout sessions. Attendees worked in breakout groups with IT trainers.

The course was open to the international research community, including clinicians, medical specialists, registry curators, database managers, healthcare professionals, and representatives of rare disease patients.

An online registration form was available until 20 June 2019.

The agenda of the Summer School could be downloaded [here].