Rare diseases are capital example where pooling of expertise and resources together with coordination of national and European efforts are game changers. Despite significant efforts employed so far, RD research in Europe can be further improved, to overcome fragmentation, leading to efficacious use of data and resources, faster scientific progress and increase of competitiveness, and most importantly to decrease unnecessary hardship and prolonged suffering of RD patients. To that extent, EJP RD will be the first initiative gathering over one hundred thirty partners (and their networks, e.g., only the ERNs by themselves cover 900 healthcare units from near all EU Member States) from 35 countries representing key stakeholders in RD field. The strength of the EJP RD consortium lies not only in the number and diversity of its partners but also in its capacity to exploit the existing elements, detect their weaknesses, improve, innovate and deliver novel more efficient solutions. To efficiently transcribe EJP RD activities and outcomes at regional, national, EU and international levels the EJP RD already involved and will maintain strong connection with relevant policy makers. The governance, research & innovation strategy and prioritization process will be organized around the Policy Board gathering ministries of research & health, relevant EC directorates and other key high level stakeholders. In addition, each country will be urged to put in place National Mirror Group (NMG) bringing national partners participating directly in the EJP RD and additional actors of the RD field. The NMDs will be central in identifying, discussing and bringing the national needs to the upper level. Each country will speak with united and single voice. This will be also reflected in the EJP RD Governing Board where each country will possess one vote (in the name of all national stakeholders). The same rule will apply to the EU Research Infrastructures, Patient Organizations, ERNs and charities. Once again EJP RD will capitalize on already existing seminal configurations (e.g., at national level around National Plans for Rare Diseases; for EU research infrastructures within CORBEL project; for ERNs within ERN Board of Coordinators, etc.) and reinforce their (gathering) potential through the EJP RD governance. Such explicit organization fortified by extraordinary commitment of EJP RD partners and RD community in general will be the key to successful alignment of regional/national and EU activities and policies in the field of rare diseases.
Yearly updates on overall impact
- Increased awareness of the rare diseases research ecosystem.
- New possibilities for negotiation of financing of rare diseases research in countries not yet involved in funding activities (by joining EJP RD joint transnational calls implemented in Pillar 1).
- Initiation and/or empowerment of National Mirror Groups bringing all RD stakeholders (e.g. creation of NMG in Poland and Portugal, full alignment of actions between National Plan for Rare Diseases and EJP RD in France).
- Alignment with national strategies is now visible: e.g., in France the EJP RD work, notably in relation to implementation of federated Virtual Platform, standards, ontologies and methods used, is indicated as mandatory for the alignment of national resources (newly created or to be updated rare diseases registries and/or databases), cohorts and health data hub that will host RD data.
- The EJP RD standardization work has also been featured in the calls for projects of the European Commission/Innovative Medicines Initiative as reference/recommendation that needs to be taken into account by applicants.
- The work between ERNs and EJP RD on the registries and related Informed Consent Form resulted in adaptation of the original ICF template (provided by the European Commission) to include national specificities and facilitate the validation of ERN registries by national ethics committees.
- The alignment of national policies in RD and EJP RD continues. New countries engaged in the creation of the National Mirror Group (The Netherlands, Portugal). The strategic actions of the EJP RD targeting yearly monitoring of the alignments resulted in mapping of national strengths and weaknesses, dedicated workshop, and possibility to implement specific follow up.
- EJP RD also engaged with 1+Million Genomes (which is a joint national initiative signed by 23 countries towards access to at least 1 million sequenced genomes in the EU by 2022 and to leverage the potential of genomics in the prevention, diagnostics, and therapy of cancer, non-communicable diseases, rare diseases, and infectious diseases) into joint use cases fostering interoperability of 1+MG resources with resources compliant with the EJP RD Virtual Platform specifications, such that multiple resources can be automatically found and used by their own machine actionable descriptions. This should allow on complementing the 1+MG architecture schema with the function to provision FAIR, machine actionable data and metadata in accordance with EJP RD VP specifications (‘FAIR data points’, ontological models for data and metadata) and thus contribute to the use of genomics data for research and other type of data to enrich genomics data for patients’ diagnosis for example.