The 6th International Summer School on Rare Disease and Orphan Drug Registries took place from September 10 to September 14, 2018, in Rome, Italy. The course was addressed to professionals and patients involved in, or planning, the establishment of a rare disease registry, particularly within the European Reference Networks (ERNs).
The Summer School was organised and hosted by the National Centre for Rare Diseases – Istituto Superiore di Sanità in Rome, Italy, and co-organised by several other international bodies. It focused on the resources needed to establish a rare disease registry as well as on the strategies to ensure:
- Long term sustainability of a registry
- The quality of the data collected
- How a registry can be turned into a FAIR resource
The event promoted the implementation of principles of Findable, Accessible, Interoperable, and Reusable (FAIR) data for rare disease registries as well as the cooperation among different registry stakeholders. The FAIR guiding principles have received the label IRDiRC (International Rare Disease Research Consortium) Recognized Resources.
This edition of the School was organized in two training modules. The first training module consisted of plenary presentations and interactive small-group exercises, according to the Problem-Based Learning method; the second training module consisted in the Bring Your Own Data (BYOD). The BYOD is a hands-on experience organised with break-out groups, alternated with plenary sessions where participants presented the results of their group work.
In the BYOD module attendees first went through a tutorial, using mock example data; then, with the guidance of IT-trainers they repeated the tutorial steps with scrambled and anonymized sample data that they brought to the workshop, thus producing their first FAIR data
Istituto Superiore di Sanità would like to take the opportunity to acknowledge all speakers and participants for the highly interactive edition of the International Summer School on Rare Disease and Orphan Drug Registries and to thank the bodies that co-organised and/or supported the course, namely RD-Connect; ELIXIR-NL, ELIXIR-IT, EURORDIS, Orphanet, EuRRECa, ERNs, EPIRARE and ICORD.
