Skip to content
Generic filters
Exact matches only
Search in title
Search in content
Search in excerpt


The European Joint Programme on Rare Diseases (EJP RD) demonstrates how the centralised collaboration between different stakeholders advances rare disease (RD) research for the benefit of patients. The bridges built between expanded RD research community and the European Reference Networks allow the advancement of RD Virtual Platform and common approach to standards registries. Integration of patients in all activities and close collaboration with funders aim to lead to the long-expected mind-set changes on patient-centred research.

Project duration:

January 2019 – December 2024

The consortium

See full list here.

Funding body

Horizon Europe

EURORDIS role in the project

EURORDIS has been involved in the strategic development of the EJP RD proposal and as such is an active member of the Operating Group, which includes the leaders of the different pillars. EURORDIS co-leads a Pillar on capacity building and training for all relevant stakeholders including RD patient representatives. The Pillar gathers 45 partners across 5 work packages. EURORDIS has coordinated efforts to pull together a coherent programme of training courses and support activities that are delivered mostly on a pluriannual basis.

Training for patient representatives

In 2022, EURORDIS provided training to 26 patient advocates (from 15 countries) on scientific innovation and translational research aspects on rare diseases through its EURORDIS Winter school that was held from 21 to 25 March 2022. The Expert Patients and Researchers EURORDIS Summer School took place from 6-10 June 2022. 29 trainees participated, including 23 patient advocates and 6 researchers from 18 countries. EURORDIS is also co-organising the EJP RD Training for patient representatives and advocates on leadership and communication skills, attended by 22 trainees in 2022.

EURORDIS also oversaw all training activities from the training pillar partners and has been involved in the development of several EJP RD Massive Open Online Courses. Two of them are already available: Diagnosing Rare Diseases: from the Clinic to Research and back and From Lab to Clinic: Translational Research for Rare Diseases

Partnership on Rare Diseases

In 2022, EURORDIS participated in all project meetings, including all discussions related to the forthcoming Partnership on Rare Diseases. The RD Partnership is a co-funded partnership that will pull European Commission and EU Member States and Associated countries funding to optimise investments and research efforts in RDs by aligning them with coordinated strategies and programmes.

The main goal of the RD partnership is to improve the life of patients living with a rare disease by developing diagnostics and treatments through multidisciplinary research and innovation programmes. The RD partnership will coordinate national, local and European research and innovation programmes. It will combine research funding and implementation of research supportive activities such as training, data access infrastructures, data standards, etc. In Spring 2021, the Commission services asked potential partners to further elaborate proposals for the candidate European Partnerships (49) planned to be launched in 2023 and 2024. The RD Partnership itself is planned to be launched in 2024.

A Concept Paper has been developed by partners based on guidance and templates received from the European Commission (EC). This has been done considering the initial concepts developed by the Commission and thanks to the feedbacks received from Member States during early consultation. Together with 70 partners, EURORDIS contributed to the drafting of the concept paper of the EU Rare Diseases Partnership under Horizon Europe. The concept paper submitted on 21 December 2021 to the EC was published on the EC website in February 2022.

EURORDIS priorities on Research

Research leads to a better understanding of rare diseases, quicker and more accurate diagnosis, innovative treatments and cures, and better health care. It represents hope for the 30 million people living with a rare disease in Europe and their families.

Contact person

Roseline Favresse,
Research Policy and Initiatives Director