The EJP RD pipeline translated by its interlocked Pillars and transversal activities fosters effective and efficient implementation of research and innovation outcomes in the daily life of rare disease patients. The participation and strong involvement of the European Reference Networks, linking centres of expertise and professionals in different countries, will be the key element to improve the uptake of research results into health care.
The funding of socio-economic and health care/health services related projects in Pillar 1 (WP6) will facilitate a better understanding of the real-life problems and possible solutions for better uptake of research results in the general practice. In addition, the expected exchange of knowledge facilitated through the Networking schemes (WP7) and close connections between researchers, doctors and patients will also lead to an increased uptake of research results by providing the space to share diagnostic practices and guidelines, put more light on research results and innovative solutions and strengthen the collaborations by different stakeholders.
The Pillar 2 strategy is based on giving the European Reference Networks a leading role in driving the way VP is built, with the ultimate aim to accelerate the take up of research results in clinical practice for the benefit of patients. ERNs ensure the usability and the usefulness of the VP by testing it against real-life use cases, by bringing research questions and establishing, together with Pillar 2 partners, sustainable mechanisms for ensuring a virtuous cycle between care and research. In particular, ERNs will make their registries FAIR at the source in collaboration with EJP RD partners, so as to improve data sharing and re-use, under conditions, to increase health data secondary use for research purposes.
The translation from research to healthcare cannot be done without relevant education. Pillar 3 will train on how research results can be exploited in other settings like diagnosis, drug development, etc. It will also provide dedicated trainings developed by and targeted to ERNs, thus closely connecting the needs of healthcare providers and research. Close collaboration with Pillar 2 and Pillar 4 will enabled to identify emerging needs in new technologies and methodologies which will be addressed either through adapting exiting training or developing new ones.
Pillar 4 is dedicated to patient-centrism, and in so doing will ensure that all projects traversing the chasm between lab and clinic are designed for optimal patient uptake. This will be achieved by ensuring strong technical, product development, regulatory, HTA and funding support is available, so that projects are structured with patient uptake at their heart, and can benefit from follow-on funding to get them closer to the patient. Moreover, the methodological work being done to improve statistical methods for small populations will allow clinical uptake for interventions designed for rare diseases, thereby also improving ability to implement results into the clinic. The close involvement of ERNs and of patients groups is a key factor for this implementation, and these will be well integrated in Pillar 4.
Yearly updates on impact 4
In progress, see year 2
- The joint transnational call 2021 implemented in year 2 focused on funding of research related to socio-economic, health care/health services, e-health and studies addressing the impact/burden of the delay in diagnosis and of the lack of therapeutic interventions. This is the first time such type of multinational research is financed, with the aim of up taking the results to provide direct guidance/recommendations and impact healthcare systems and practices.
- In addition, the actions of WP7 Networking Support Scheme result in funding of events/workshops that connect researchers, health care professionals and patients, to support the exchange of knowledge and an increased uptake of research results by providing the space to put more light on research results and innovative solutions and strengthen the collaborations by different stakeholders, including those from thus far underrepresented countries.
- The work initiated in year 2 and led by EJP RD together with ERNs to make their registries FAIR at the source, laid the basis for improvement of data sharing and re-use, under conditions, to increase health data secondary use for research purposes.
- Funding of EJP RD ERN dedicated fellowships to train young MDs and PhD allowed on exchange and training of 33 fellows that contribute to bridging of healthcare and research by sharing of knowledge, joint research activities and clear benefit for each involved ERN.
- Data Models mapping efforts including medical information standards as well as the data consent and access condition representation and modelling is paving the way to further integration of healthcare and research ecosystems for a mutual take-up of data and findings.
To build the strong pathway between research and healthcare EJP RD (among others) supports the networking to build the basis of the community. 24 networking events funded by EJP RD took place and generated new collaborations, initiated new research projects and closer connections between patients, clinicians and scientists. Moreover EJP RD trained 59 young MDs and PhD as part of the ERN exchange programme. As part of its data infrastructure and ecosystem support EJP RD provided semantic mapping services, disease classification services, and gene-disease services as well as the data consent and access condition representation and modelling so they can be implemented at any node of the VP network to facilitate queries and integrate to the healthcare information system. The work done in year 4 allowed the generation of patient individual healthcare trajectories from a dummy healthcare database leveraging on the semantic mapping with OMOP (Observational Medical Outcomes Partnership) standard. This is an example of healthcare and research ecosystems integration for a mutual uptake of data and findings.
EJP RD trained 38 young MD and PhD as part of ERN exchange programme.As part of its data infrastructure and ecosystem support EJP RD provided semantic mapping services, disease classification services, and gene-disease services as well as the data consent and access condition representation and modelling so they can be implemented at any node of the VP network to facilitate queries and integrate to the healthcare information system. The collaboration between the Pillar 2 metadata and data modelling and the experts of the Data Catalogue Vocabulary (DCAT), the catalogue that is adopted by the European Health Data Space, resulted on a sustainable approach for future extension of the (meta)data models that will allow them to interact with others in the wider European healthcare data ecosystem. Furthermore, the Virtual Platform Specifications, and the VP onboarding document for resources provide RD stakeholders with resources relevant to RD research with guidance on possibilities of how their resource can become part of the Virtual Platform, supporting the European IT ecosystem continuous integration and growth for better care and medical innovation.