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Mimouni et al. Rare Dis Orphan Drugs J 2024;3:17 Rare Disease and
DOI: 10.20517/rdodj.2024.06
Orphan Drugs Journal

Perspective Open Access

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

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Yanis Mimouni , Juliane Halftermeyer , Yanna Petton , Pauline Adam , Clément Moreau , Ana Rath ,
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Roseline Favresse , Birute Tumiene , Daria Julkowska 1
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Thematic Institute of Genetics, Genomics & Bioinformatics, INSERM, Paris 75013, France.
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Inserm Transfert, Paris 75015, France.
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US14 - Orphanet - Plateforme Maladies Rares, INSERM, Paris 75014, France.
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Research Policy & Initiatives Department, EURORDIS, Paris 75014, France.
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Coordinating Center for Rare Diseases, Viesoji Istaiga Vilniaus Universiteto Ligonine Santaros Klinikos, Vilnius 08661, Lithuania.
Correspondence to: Dr. Daria Julkowska, Thematic Institute of Genetics, Genomics & Bioinformatics, INSERM, 8 rue de la Croix
Jarry, Paris 75013, France. E-mail: daria.julkowska@inserm.fr
How to cite this article: Mimouni Y, Halftermeyer J, Petton Y, Adam P, Moreau C, Rath A, Favresse R, Tumiene B, Julkowska D.
The European joint programme on rare diseases: building the rare diseases research ecosystem. Rare Dis Orphan Drugs J
2024;3:17. https://dx.doi.org/10.20517/rdodj.2024.06
Received: 2 Feb 2024 First Decision: 11 Apr 2024 Revised: 7 May 2024 Accepted: 14 Jun 2024 Published: 24 Jun 2024
Academic Editors: Tao Duan, Jacques S. Beckmann Copy Editor: Fangyuan Liu Production Editor: Fangyuan Liu
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

WHAT IS EJP RD?
For years, many stakeholders in Europe, with the support of the European Union, have contributed to

© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0
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