5th International Summer School on Rare Disease & Orphan Drug Registries took place in Rome (Italy) on 18-20 September. Summer school was attended by Coordinating Centre for Children’s Rare Diseases physician Viktoras Sutkus and administrator Liucija Kanapeckaitė.
Summer school was organized by National Centre for Rare Diseases, Istituto Superiore di
Sanità (director Domenica Taruscio) and Office for External Relations and Centre for International Affairs, Istituto Superiore di Sanità (coordinator Giovanni De Virgilio).
Problem based learning was used in lectures. They were very interactive and intense. During the course, participants were divided into small groups where they shared their experience in rare disease registries, solved given tasks and had to present their solutions to all participants at the end of the day.
During the summer school, lectures were given by specialists like Joseph Giuliano (Global
Medical Operations & Patient Registries Amicus Therapeutics, USA), Manuel Posada (Institute of
Health Carlos III, Spain), Victoria Hedley (Newcastle University, United Kingdom), Enrique Terol
(DG SANTE, European Commission, Belgium), Virginie Bros-Facer (EURORDIS, France), Simona
Martin (Joint Research Centre, European Commission, Italy), Marc Hanauer (Directeur technique
Orphanet, Inserm, France) and others.
Topics for the first day were governance and sustainability of the registry. Lectures on European Reference Networks (ERN), European rare disease registries platform, RD-action and political activities, patient role in ERN decision making (ePAG – EURORDIS, European patient representative group; each ERN has its own ePAG groups ) was discussed.
Second day’s lectures were about registry quality and legal issues, new EU General Data Protection Regulations were presented.
During third day, FAIR principles were presented. It is a principle system (which improves sharing of scientific data), common dataset, privacy preserving record linkage, Orphanet nomenclature and knowledge management and clinical data models and terminologies.
This course on rare disease registries will be beneficial in making a rare disease registry in Children‘s hospital, Vilnius University Hospital Santaros klinikos.
