The European joint programme on rare diseases: building the rare diseases research ecosystem

Abstract

The European Joint Programme on Rare Diseases (EJP RD) represents a significant step forward in the rare diseases research ecosystem, integrating over 130 institutions from 35 countries. It focuses on streamlining the process from basic research to clinical application, fostering collaboration at an international scale, and emphasizing patient engagement. The initiative has funded numerous projects across various medical domains, developed the Rare Diseases Virtual Platform, and significantly impacted the rare disease landscape through training, project mentoring, and innovative methodology developments. Expanding beyond, EJP RD collaborates with various initiatives to optimize resource use and is evolving into the European Rare Diseases Research Alliance, aiming to accelerate diagnostics, develop innovative therapies, and assess the rare disease burden to inform policy decisions.

Keywords

Rare diseases / research funding / virtual platform / capacity building / research acceleration / patients’ empowerment / innovative methodologies / translational research

References

[1] EJP RD. Project structure. The European joint programme on rare diseases: presentation. Available from: https://www.ejprarediseases.org/what-is-ejprd/project-structure/ [Last accessed on 17 Jun 2024]

[2] IRDiRC. Who we are. Introduction to the international rare diseases research consortium (IRDiRC). Available from: https://irdirc.org/who-we-are-2/ [Last accessed on 17 Jun 2024]

[3] IRDiRC. Visions and goals. Available from: https://irdirc.org/about-us/vision-goals/ [Last accessed on 17 Jun 2024]

[4] EJP RD. What is EJP RD? Governance. Available from: https://www.ejprarediseases.org/what-is-ejprd/governance/ [Last accessed on 17 Jun 2024]

[5] IRDiRC. Scientific committees. Available from: https://irdirc.org/scientific-committees/ [Last accessed on 17 Jun 2024]

[6] RE(ACT) congress and IRDiRC conference 5-7 March 2025 Brussels. Available from: https://www.react-congress.org/ [Last accessed on 17 Jun 2024]

[7] EJP RD. Innovation management toolbox. Available from: https://imt.ejprarediseases.org/ [Last accessed on 17 Jun 2024]

[8] Hechtelt Jonker A,Gabaldo M.Boosting delivery of rare disease therapies: the IRDiRC orphan drug development guidebook.Nat Rev Drug Discov2020;19:495-6.

[9] EURORDIS. Who we are. Available from: https://www.eurordis.org/who-we-are/our-vision-mission/ [Last accessed on 17 Jun 2024]

[10] EURORDIS. Who we are - projects and partnerships - EJP on RD. Available from: https://www.eurordis.org/projects/ejp-on-rd/ [Last accessed on 17 Jun 2024]

[11] The National Mirror Groups (NMGs). European joint programme on rare diseases. Available from:: https://www.youtube.com/watch?v=BbGjlsG0-RE [Last accessed on 17 Jun 2024]

[12] EJP RD. Funded projects. Available from: https://www.ejprarediseases.org/our-actions-and-services/funding-opportunities/funded-projects/. [Last accessed on 17 Jun 2024]

[13] EJP RD. Short guide on patient partnerships in rare diseases research projects. Available from: https://www.ejprarediseases.org/wp-content/uploads/2021/03/SHORT-GUIDE-ON-PATIENT-PARTNERSHIPS-IN-RARE-DISEASE-RESEARCH-PROJECTS.pdf [Last accessed on 17 Jun 2024]

[14] EJP RD. Patients’ training. https://www.ejprarediseases.org/our-actions-and-services/training-and-education/patients-training/ [Last accessed on 17 Jun 2024]

[15] EJP RD. Networking support scheme (NSS) call. Available from: https://www.ejprarediseases.org/our-actions-and-services/funding-opportunities/calls/networking-support/ [Last accessed on 17 Jun 2024]

[16] EJP RD. Rare diseases research (RDR) challenges call. Available from: https://www.ejprarediseases.org/rare-diseases-challenges/ [Last accessed on 17 Jun 2024]

[17] EJP RD. Funded projects: internal call for proposals 2019 - clinical trials methodology demonstration projects. Available from: https://www.ejprarediseases.org/funded-projects-demonstration/ [Last accessed on 17 Jun 2024]

[18] EJP RD. Funded projects: internal call for innovation project in clinical trials methodology. Available from: https://www.ejprarediseases.org/funded-projects-internal-call-for-innovation-project-in-clinical-trials-methodology/ [Last accessed on 17 Jun 2024]

[19] Orphanet database. Knowledge on rare diseases and orphan drugs. Available from: www.orpha.net [Last accessed on 17 Jun 2024]

[20] The EJP RD virtual platform. Available from: https://vp.ejprarediseases.org/ [Last accessed on 17 Jun 2024]

[21] EJPRD. Virtual platform specification (VIPS) V2.0. Available from: https://www.ejprarediseases.org/wp-content/uploads/2023/05/EJPRD_P2_AD49_PU_Virtual-Platform-Specification-V2.0.pdf [Last accessed on 17 Jun 2024]

[22] EJP RD. FAIRification. Available from: https://www.ejprarediseases.org/fairification/ [Last accessed on 17 Jun 2024]

[23] EJP RD. D11.11 additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentation for data deposition and access. Available from: https://www.ejprarediseases.org/wp-content/uploads/2021/03/EJPRD_P2_D11.11_PU_First-ver_Addition-Facilities-Integrated-Resources_Data-Deposit-Access_FV.pdf [Last accessed on 17 Jun 2024]

[24] EJP RD. D11.12 second version additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentation. Available from: https://www.ejprarediseases.org/wp-content/uploads/2021/03/EJPRD_P2_D11.12_PU_2nd-ver_Addition-Facilities-Integrated-Resources_Data-Deposit-Access_VF.pdf [Last accessed on 17 Jun 2024]

[25] EJP RD. D11.13 third version additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentation. Available from: https://www.ejprarediseases.org/wp-content/uploads/2022/01/EJPRD_P2_D11.13_PU_3rd-ver_Addition-Facilities-Integrated-Resources_Data-Deposit-Access_VF.pdf [Last accessed on 17 Jun 2024]

[26] EJP RD. D11.14 fourth version additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentation. Available from: https://www.ejprarediseases.org/wp-content/uploads/2023/02/EJPRD_P2_D11.14_PU_4th-ver_Additional-Facilities-Integrated-Resources_Data-Deposit-Access_VF.pdf [Last accessed on 17 Jun 2024]

[27] EJP RD. D11.15 fifth version additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentation. Available from: https://www.ejprarediseases.org/wp-content/uploads/2024/02/EJPRD_P2_D11.15_PU_5th-ver_Additional-Facilities-Integrated-Resources_Data-Deposit-Access_VF.pdf [Last accessed on 17 Jun 2024]

[28] EJP RD. D11.16 first report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new cloud and online analysis functionalities and tools. Available from: https://www.ejprarediseases.org/wp-content/uploads/2021/03/EJPRD_P2_D11.16_PU_1st-Report-Processed-Genome-Phenome-Datasets-and-Multi-Omics-Use-Cases-Analysed_VF.pdf [Last accessed on 17 Jun 2024]

[29] EJP RD. D11.17 second report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new cloud and online analysis functionalities and tools. Available from: https://www.ejprarediseases.org/wp-content/uploads/2021/03/EJPRD_P2_D11.17_PU_2nd-Report-Processed-Genome-Phenome-Datasets-Multi-Omics-Use-Cases-Analysed_VF.pdf [Last accessed on 17 Jun 2024]

[30] EJP RD. D11.18 third report on processed genome- phenome datasets and multi-omics use cases analysed, including description of new cloud and online analysis functionalities and tools. Available from: https://www.ejprarediseases.org/wp-content/uploads/2022/01/EJPRD_P2_D11.18_PU_3rd-Report-Processed-Genome-Phenome-Datasets-Multi-Omics-Use-Cases-Analysed_VF.pdf [Last accessed on 17 Jun 2024]

[31] EJP RD. D11.19 fourth report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new cloud and online analysis functionalities and tools. Available from: https://www.ejprarediseases.org/wp-content/uploads/2023/02/EJPRD_P2_D11.19_PU_4th-Report-Processed-Genome-Phenome-Datasets-Multi-Omics-Use-Cases-Analysed_VF.pdf [Last accessed on 17 Jun 2024]

[32] EJP RD. D13.01 collection of (at least) 20 curated pathways in a (sub)portal on WikiPathways. Available from: https://www.ejprarediseases.org/wp-content/uploads/2022/01/EJPRD_P2_D13.01_PU_Collection-of-curated-pathways-sub-Portal-WikiPathways_VF.pdf. [Last accessed on 17 Jun 2024]

[33] EJP RD. D13.2 completed pathway analysis workflow (data analysis including both types of genetic variant linking and network creation). Available from: https://www.ejprarediseases.org/wp-content/uploads/2023/02/EJPRD_P2_D13.02-AD50-AD51_PU_Completed-pathway-analysis-workflow.pdf [Last accessed on 17 Jun 2024]

[34] EJP RD. Deliverable 13.3 completed network analysis workflow (active node detection, lifestyle factor network evaluation and extended network analysis for drugs and toxic compounds). Available from: https://www.ejprarediseases.org/wp-content/uploads/2024/02/EJPRD_P2_D13.03_PU_Completed-pathway-analysis-workflow-active-node-detection-lifestyle-factor-network-evaluation-extended-network-analysis-for-drugs-toxic-compounds_VF.pdf [Last accessed on 17 Jun 2024]

[35] ELIXIR service bundles for rare diseases. Systems biology service bundles for rare diseases. Available from: https://elixir-europe.org/services/service-bundles/rare-diseases [Last accessed on 17 Jun 2024]

[36] EJP RD. General information on training. Available from: https://www.ejprarediseases.org/general-information-training/ [Last accessed on 17 Jun 2024]

[37] EJP RD. Mentoring for translational research. Available from: https://www.ejprarediseases.org/mentoring/ [Last accessed on 17 Jun 2024]

[38] EJP RD. AD40 report on training gaps identified and solutions proposed. Available from: https://www.ejprarediseases.org/wp-content/uploads/2024/02/EJPRD_P3_AD40_PU_Report-on-Training-Gaps-identified-and-solutions-proposed.pdf [Last accessed on 17 Jun 2024]

[39] EJP RD. Research mobility fellowships. Available from: https://www.ejprarediseases.org/our-actions-and-services/funding-opportunities/funded-projects/fellows/ [Last accessed on 17 Jun 2024]

[40] EJPRD. ERN workshops. https://www.ejprarediseases.org/our-actions-and-services/training-and-education/ern-workshops/ [Last accessed on 17 Jun 2024]

[41] EJP RD MOOC. Diagnosing rare diseases: from the clinic to research and back. Available from: https://www.futurelearn.com/courses/rare-genetic-disease [Last accessed on 17 Jun 2024]

[42] EJP RD. D14.2 orphanet nomenclature and ontologies national trainings. Available from: https://www.ejprarediseases.org/wp-content/uploads/2024/02/EJPR-RD_P3_D14.02_PU_Second-Report-of-Orphanet-nomenclature-training-for-trainers-and-national-trainings.pdf [Last accessed on 17 Jun 2024]

[43] European joint programme on rare disease (EJP RD). Available from: https://www.ga4gh.org/driver_project/european-joint-programme-on-rare-disease/. [Last accessed on 17 Jun 2024]

[44] 1+MG Framework. Rare diseases. Available from: https://framework.onemilliongenomes.eu/rare-diseases [Last accessed on 17 Jun 2024]

[45] C-path and the European joint programme on rare diseases to expand global impact and partnership. Available from: https://c-path.org/c-path-and-the-european-joint-programme-on-rare-diseases-to-expand-global-impact-and-partnership [Last accessed on 17 Jun 2024]

[46] Alarcon P,Hartley E.Leveraging biolink as a “rosetta stone” between C-path and EJP-RD semantic models provides emergent interoperability.J Soc Clin Date Manage2023;2:1-8.

[47] EJP RD. Clinical trials methodology. Available from: https://www.ejprarediseases.org/clinical-trials-methodology/ [Last accessed on 17 Jun 2024]

[48] Rare disease moonshot. Available from: https://www.rarediseasemoonshot.eu/ [Last accessed on 17 Jun 2024]

[49] EJP RD. European rare diseases research alliance. ERDERA. Available from: https://www.ejprarediseases.org/erdera/ [Last accessed on 17 Jun 2024]

[50] European rare diseases partnership strategic research & innovation agenda. Available from: https://www.ejprarediseases.org/wp-content/uploads/2023/05/RDP_SRIA_v1.0_Public_Consultation.pdf [Last accessed on 17 Jun 2024]