CONFERENCE - Rare diseases and the European reference networks: how to guarantee European solidarity for patients?

11 October 2023

9:00-9:30  Opening session

Welcome address: Juan Mari Aburto, Mayor of Bilbao

Moderator: Baiba Miltoviča, President of the Section for Transport, Energy and Infrastructure, EESC

  • Stella Kyriakides, European Commissioner for Health and Food Safety (video message)
  • Sandra Gallina, Director-General for Health and Food Safety, European Commission (DG SANTE)
  • Gotzone Sagardui, Minister for Health, Basque Government
  • Oliver Röpke, President of the European Economic and Social Committee
  • José Miñones Conde, Spanish Minister for Health 

9:30-11:00  Session 1: Rare diseases: organisational models and good practices in health and social care

Moderator: Pilar Aparicio Azcárraga, Director-General for Public Health, Spanish Ministry of Health

  • Alain Coheur, Member of the European Economic and Social Committee – Ensuring strong European solidarity for patients with rare diseases
  • Yann Le Cam, Chief Executive Officer, EURORDIS-Rare Diseases Europe The unmet needs of patients and their families 
  • Luis Varona FrancoALS Unit and Clinical Trials Coordinator at the Basurto University Hospital - Model of good practices of multidisciplinary care of ALS patients 
  • Anne-Sophie Lapointe, Project Manager for Rare Diseases, French Ministry of Health and Prevention – Model of good practices in the area of social healthcare in France
  • Milan Macek, Czech Republic representative on the ERN Board of Member States – Call for action in the area of rare diseases 


11:00-11:30  Coffee break

11:30-13:00  Session 2: European Reference Networks for rare diseases: Consolidation, future and integration into EU health systems

Moderator: Enrique Terol García, Health Counsellor, Permanent Representation of Spain to the EU

  • Donata Meroni, DG SANTE, European Commission – Implementation and evaluation of the ERNs five years since their creation: future and sustainability 
  • Till Voigtländer, Coordinator of the future Joint Action JARDIN  Integrating the ERNs into the EU's health systems: joint action under the EU4HEALTH health programme 
  • César Hernández García, DG Services Portfolio, Spanish Ministry of Health – Spain's model for integrating reference centres, services and units with the national health system centres and the ERNs 
  • Holm Graessner, Coordinator of ERN-RND – Challenges for the sustainability of the ERNs
  • Javier Cobas Gamallo, Deputy CEO University Hospital La Paz (Madrid) – The key role of the hospital managers in the integration of the ERNs into the healthcare systems


13:00-14:00  Lunch break

14:00-15:30  Session 3: Generating, exchanging and applying knowledge

Moderator: Sára Felszeghi, Member of the European Economic and Social Committee

  • Marta Mosca, Coordinator of the European Reference Network on Rare and Hereditary Connective and Musculoskeletal Diseases (ERN ReCONNET) Clinical practice guidelines on rare diseases 
  • Maurizio Scarpa, Coordinator of the European Reference Network for Hereditary Metabolic Diseases (MetabERN) – Training on rare diseases for professionals
  • Juan Carrión Tudela, President of the Spanish Federation of Rare Diseases (FEDER) – Access to knowledge and evidence for patients
  • Alberto Pereira, Endo-ERN Coordinator Strengthen research and innovation capacity by the integration of ERN research activities
  • Leire Solis, ERN-RITA patient representative, International Patient Organisation for Primary Immunodeficiencies - Evidence based newborn screening strategy


15:30-16:00  Coffee break

16:00-17:30  Session 4: Remaining challenges linked to research into rare diseases

Moderator: Simone Boselli, Director, EURORDIS 

  • Irene Norstedt, Director for People, DG RTD, European Commission (video message)
  • Carmen Laplaza Santos, Head of Unit - Health Innovations,DG RTD, European Commission – The current state of research into rare diseases in the EU 
  • Ángel María Carracedo ÁlvarezPrecision Medicine Infrastructure linked to Science and Technology (IMPaCT), CIBERER – The IMPact Genomic programme for the diagnosis of rare disease in Spain
  • Alexis Arzimanoglou, Coordinator at the European Reference Network on Rare and Complex Epilepsies (ERN EpiCARE) – Challenges relating to research and innovation in the area of rare diseases 
  • Ana Rath, Director of Orphanet, INSERM – Collaborative research into rare diseases in the EU and the role of Orphanet in its implementation 
  • Juan Fernando Muñoz Montalvo, Secretary-General for Digital Health, Information and Innovation, Spanish Ministry of Health – The European Health Data Space: an opportunity for research into rare diseases 



Presentation of Conclusions

  • Emilio Sola, Departmental Policy Advisor, Ministry for Equality, Justice and Social Policies of the Basque Country 
  • Ágnes Cser, Member of the European Economic and Social Committee 


  • Pierre Jean Coulon, EESC Member
  • Silvia Calzón Fernández, Secretary of State for Health, Spanish Ministry of Health