4th International Summer School on Rare Disease and Orphan Drug Registries and RD-Connect BYOD Workshop to Link Rare Disease Registries

September 26-30, 2016

Rome, Italy

Organized by:

 National Centre for Rare Diseases, Istituto Superiore di Sanità.
RD Connect, Elixir, DTL


National Centre for Rare Diseases
Istituto Superiore di Sanità
via Giano della Bella, 34 - Rome, Italy

 The two events intend to promote the establishment of Findable, Accessible, Interoperable and Reusable (FAIR) Rare Disease (RD) registries in compliance with the IRDiRC and EU Recommendations and to support cooperation among different registry stakeholders and coordination with registries that are developed within National Plans in the EU in the field of rare diseases.

Patient registries represent key resources for RD to increase the chances of a timely and accurate diagnosis, improve patient management, tailor treatments, facilitate clinical trials and stimulate research towards new treatments and diagnosis. The establishment and the governance of a disease registry towards these aims remains a challenge.

The International Summer School on Rare Disease and Orphan Drug Registries will consist of plenary presentations and interactive small-group exercises, according to the Problem-Based Learning methodology.
The course will provide participants with useful tools and methodologies to establish, manage and plan the activities of a patient registry with an overview of new approaches.

The RD-Connect BYOD (Bring Your Data) Workshop to Link Rare Disease Registries will be a hands-on experience, where the attendees work with FAIR data experts to make their (sample) data FAIR and linked to other data that has been made FAIR before. The workshop will consist of preparatory webinars (one as a presentation at the Summer School), brief plenary introductions and practical working groups where participants see practically how to make their data FAIR and linkable, link it other linkable data and see how easy it becomes to answer difficult queries.

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