On the 12th and 13th of January, The European Joint Programme on Rare Diseases (EJP RD) held its first Policy Meeting engaging EJP RD partners and numerous external stakeholders. The meeting was an occasion to update on the work done in EJP RD and to to start the discussion on the future of EJPRD through the perspective of the forthcoming Rare Diseases Partnership under Horizon Europe (HE).

Rare Diseases remain a primary topic and model of transnational collaboration with high added value. With the implementation of the European Reference Networks, creation of the European Join Programme on Rare Diseases and increased empowerment of patients, recent years opened new avenues for the construction of cohesive rare diseases ecosystem. At the same time, the acceleration of new technologies, use of big data, innovation beyond omics, AI, introduces new challenges and opportunities.It was time to reflect on the current state-of-the-art and take a look forward – in 2024 and beyond to prepare the next steps and build together the near future of rare diseases community in Europe and beyond.

The meeting was organised in 2 parts:

  • The first part, held on the 12th January entitled RD ecosystem & beyond – state of the art included five sessions providing a comprehensive state of the art of existing or forthcoming initiatives and inquiring about the progress expected by 2024 when the new Partnership on Rare Diseases should be implemented. Each session brought not only information but also perspectives from different stakeholders and addressed issues such as the global approach to patient care developed by the European Reference Networks, the capacity provided by the analysis of genomic and other data, dedicated training and education opportunities, and the development of national, European and international plans and strategies.
  • The second part, entitled Building the future Rare Diseases Partnership (key founding elements and need), was held on the 13th of January. It consisted of an introduction of future vision through the foresight scenarios of Rare 2030 Rare Diseases Policy, and an analysis of the Partnerships models under the umbrella of the new European research program Horizon Europe, which begins its journey this year after taking up the work of its predecessor, Horizon 2020.

Both sessions have provided premises for a subsequent discussion, in an interactive format on the following topics: data, research and innovation, education and empowerment, and National-EU-international alignment.

Common strategies and financing

The European Partnerships in Horizon Europe can be considered as “joint ventures” co-created and co-financed by the involved countries/stakeholders and the European Commission. Their strategic ambition is driven by key societal challenges translated into the needs of stakeholders (patients, research community, healthcare providers, funders, etc.) and supported by dedicated collaborative actions implemented at EU, international, national and regional levels. Under Horizon Europe Partnerships are expected to establish a formal collaboration and regular collaboration with other relevant research and innovation initiatives, within the framework of their governance models and joint actions, which serve to generate common strategic agendas and facilitate joint funding opportunities.

The Policy Meeting of the European Joint Programme on Rare Diseases has laid the foundations to consolidate current actions and prepare the next steps in the joint construction of the future of the rare disease community in Europe and beyond the EU, with the horizon of the year 2024 as a target.
The Agenda of the meeting and respective list of speakers can be consulted below. The conclusions of the meeting will be collected in a report that will be prepared and published in the coming weeks.

DAY1, 12 of January 2021 (13:00 – 18:30)

12:45 – 13:00 Welcome and introduction from EJP RD coordination (objectives of the meeting & where do we stand with EJP RD)
Gilles Bloch, CEO & president of INSERM & Daria Julkowska, EJP RD coordinator

13:00 – 13:45 Holistic approach to rare diseases care & research – the European Reference Networks
ERNs – the challenge of equal care for all, Biruté Tumiene, Vilnus University Hospital, representative of BoMS
ERNs in 2024 – Chair of the ERN coordinators group, Nicoline Hoogerbrugge, Radboud UMC
The European Patient Advocacy Groups (ePAGs) – the roles and responsibilities of patients in ERNs – from today to tomorrow – ePAG representative, Allison Watson, Ring20 Research & Support UK

13:45 – 15:00 The power of data
EU Health Data Space, Markus Kalliola, SITRA
European Open Science Cloud, Sarah Jones, EOSC Engagement Manager
FAIR in times of crisis, Barend Mons, LUMC
The future of regulatory science in Europe, Jordi Llinares, EMA
The European Platform on Rare Disease Registration (EU RD Platform) – achievements and future, Simona Martin, JRC
EJP RD Virtual Platform, Ana Rath, INSERM-Orphanet & Franz Schaefer, Heidelberg University Hospital

15:00 – 15:15 Coffee break

15:15 – 16:40 Research & innovation for the benefit of rare diseases
From Horizon 2020 to Horizon Europe, Catherine Berens, DG RTD European Commission
13 years of multinational funding support for rare diseases, Ralph Schuster, DLR & Sonja van Weely, ZonMw
Why public-private partnerships in health are key to success, Pierre Meulien, IMI
EU Research Infrastructures, partners for RD research now and in the future, Jacques Demotes, ECRIN
Innovation potential in RD clinical trials, Rima Nabbout, APHP & Ralf-Dieter Hilgers, Aachen University
1000 new therapies by 2027, Simone Boselli, EURORDIS

16:40 – 16:50 Comfort break

16:50 – 17:20 Back to basics – education & empowerment
How EJP RD empowers the RD community? – Virginie Bros-Facer, EURORDIS & Biruté Tumiene, Vilnus University Hospital

17:20 – 18:05 Rare diseases – the global village (10 min presentations + 15 min overall discussion)
Supporting national rare diseases strategy – opportunities & obstacles, Carla Pereira, Coordinator of the Portuguese Strategy for Rare Diseases, Portugal
Alignment of national and EU RD strategies – where do we stand now, Domenica Taruscio, ISS, Eva Bermejo-Sanchez & Manuel Posada, ISCIII
Rare diseases without borders – IRDiRC perspective, Lucia Monaco, IRDIRC chair, FTELE & David Pearce, IRDiRC vice-chair, Sanford Health Research Center

DAY2, 13 of January 2021 (09:00 – 12:30)

09:00 – 09:30 Investment for social justice – the future of rare diseases
Rare 2030 perspective – Yann Le Cam, EURORDIS

09:30 – 09:50 Horizon Europe Partnerships, Roland Branderburg, ERA-LEARN/FFG

09:50 – 10:35 Rare Diseases Partnership – key components & gap identifier interactive session
45 min of moderated separate sessions around the 4 themes identified in day 1: data, research & innovation, education & empowerment, national/EU/international alignment.

10:35 – 10:50 Comfort break

10:50 – 11:35 Rare Diseases Partnership – key components & gap identifier – restitution of sessions outcomes
11:35 – 12:00 Next steps & closing remarks
Daria Julkowska, EJP RD coordinator