International Summer School on Rare Disease Registries and FAIRification of Data

23 – 27 September 2019, Istituto Superiore di Sanità, Rome, Italy


The International Summer School on Rare Disease Registries and FAIRification of Data is a part of a series of training activities proposed by the European Joint Programme on Rare Diseases (EJP RD).
In particular this Course is a part of WP14, which aims to organize residential training courses in different Countries on Data Management and Quality.
The Course is made up of 5 days of residential training organized by Istituto Superiore di Sanità (ISS) in close collaboration with, mainly, EJP RD task partners [LUMC & UoG (Endo-ERN), IOR (Bond-ERN), HSK (Metab-ERN), EURORDIS, ISCIII, LUMC, INSERM (RaDiCo), UMCG, DTL-Projects (EIXIR-NL), CNR (ELIXIR -IT), AMC].

ISS, has gained vast experience by organizing numerous courses focused on rare disease registries with the support of key partners. In particular since 2013 ISS has organized and hosted the “International Summer School on Rare Disease and Orphan Drug Registries” and since 2014 the “Bring Your Own Data To Link Rare Disease Registries”.

Registries are key resources in order to increase timely and accurate diagnosis, improve patients management, tailor treatments, facilitate clinical trials, support healthcare planning and speed up research.

This course is composed of two training modules:

  • The first module “Rare Disease Registries” starts on September 23 till September 25, 2019, during these three days participants will learn (a) what resources are needed for the establishment / maintenance of a high quality registry (b) the features of successful strategies to ensure (i) long-time sustainability of the registry, (ii) quality, (iii) legal and ethical issues in compliance with the EU General Data Protection Regulation and (iv) FAIR principles
  • The second module “FAIRification of data”, starts on September 26 till September 27, 2019 during these two days participants, working with IT-trainers, will make use case data FAIR. The potential of a FAIR registry, as the basis for cross resource questions, will be demonstrated by executing a query across the use cases that become FAIR. In this part a time slot will be allocated to discuss FAIR data management and FAIR project planning.


In the first module there will be plenary presentations and problem-based learning methodology (PBL). PBL is a highly interactive and learner-centred approach, in which participants working in small groups assisted by a facilitator find the solution to a problem that will be discussed at the end with the experts.
In the second module, the final two days of the course, there will be an hands-on experience (Bring Your Own Data, BYOD) with plenary sessions alternated with breakout sessions. Attendees will work in breakout groups with IT trainers.
During the first stage attendees will follow a tutorial that takes them step by step through the process of FAIRification, using a fake dataset and a set of lightweight tools.
At the end of each step participants will present the results of their group to the other participants and the experts. In the second stage they can try to FAIRify their own anonymised sample data.
Participants are asked to bring their laptops in order to participate to the PBL and the practical demonstrations.


The training course is open to the international research community, clinicians, medical specialists, registry curators, database managers, healthcare professionals and rare disease patients representatives.
To ensure active participation and exchange with teaching staff and participants, a maximum of 30 attendees will be admitted to each training module. A selection process will be applied based on the participants’ background, role with reference to registry activities, and involvement in ERNs.

This course foresees:

  1. three fellowships for participants living in an EU13 Country. For more information about eligibility and criteria for selection, contact Claudio Carta at: claudio.carta(at)
  2. three fellowships for selected rare disease patient representatives. For more information about eligibility and criteria for selection, contact Virginie Bros-Facer at: virginie.bros-facer(at)

For each Fellowship a maximum of 350 euros for travel and 120 euros/night for hotel accommodation and a maximum of 5 nights is available.


Registration is possible for:
> the first training module: “Rare Disease Registries”, September 23-25, 2019
> the second training module: “FAIRification of Data”, September 26-27, 2019
> the entire course: “Rare Disease Registries” and “FAIRification of data”, September 23-27, 2019.
Registration closed.

An e-mail will be sent, by July 1, 2019, to the selected participants for the course and the selected attendees for the travel fellowships.

Respondents who are not contacted by email should consider themselves not selected but will be kept on a waiting list until July 30.

Registration for a reserve list is closed. 


The course and registration is free of charge. Coffee refreshments and lunches will be offered during the course. Participants must arrange their own travel, accommodation and other costs incurred to attend the course.
The course organisers will not cover expenses incurred by the participants in any case.


At the end of the course a certificate of attendance will be handed to the participants who attended 100% of the single training module or the entire course program. No credits of Continuing Education in Medicine will be issued


Workshops will run in english


Aula Rossi, Istituto Superiore di Sanità, Via Giano della Bella, 34 – Rome, Italy.


If you have questions please write to the course organiser Claudio Carta, PhD: