Rare Diseases: Inserm Coordinating a European Program of Unequaled Scale


In January 2019, the European Joint Programme on Rare Diseases (EJP RD) was launched, a major project bringing together research partners, funding agencies, hospitals, foundations and patient organizations from 35 countries. Coordinated by Inserm, its purpose is to create an extremely favorable environment in which research efforts can be coordinated and drug development accelerated. Jointly funded by the European Commission and Member States over five years, the objective is to ensure the program’s sustainability.


Rare disease research in Europe is looking positive right now, with the start of this year marking the launch of a new European Joint Program, the European Joint Programme on Rare Diseases (EJP RD), whose purpose is to pool and optimize the various resources required to improve the diagnosis and management of such conditions. It marks the culmination of many national and European initiatives already ongoing in this area.

All in all, while rare diseases concern an estimated 30 million people in Europe, each individual disease affects fewer than 5 in 10,000 people, which just goes to show how numerous and diverse they are. They generally manifest in childhood and lead to disabilities – some of which are serious – and dependency. Patients encounter severe obstacles, such as the difficulty in obtaining a reliable diagnosis due to a lack of knowledge of these diseases, as well as a therapeutic desert in many cases. Given the rarity of cases, it is only by bringing together knowledge, experts and research in the form of a network that their management can be improved.

A concept that has long been understood by Inserm which, through its various initiatives, has become a major player in this field in Europe. From 2006 to 2014, it coordinated E-RARE, a consortium linking over twenty funding organizations from 17 countries to create a joint funding program for rare disease research. It was involved in the various French National Plans for Rare Diseases and is participating in the French Plan for Genomic Medicine 2025, whose purpose is to equip France with high-throughput sequencing genomics platforms. Inserm created and now coordinates the rare disease information portal Orphanet, and it manages RaDiCo, a program supervising the formation of rare disease patient cohorts in France.

130 institutions across 35 countries

It therefore came as no surprise that the French Ministry of Research, when proposing this European flagship program, asked Inserm to establish and manage it. A mission assigned to the Genetics, Genomics and Bioinformatics (GGB) theme-based institute, directed by Catherine Nguyen. The first step involved approaching the various Member States to get them on board for the project and get as many stakeholders as possible involved: public authorities, research institutes, the 24 European Reference Networks (ERN) representing over 300 hospitals, funding agencies such as the French National Research Agency (ANR), the European research infrastructures such as Orphanet or ECRIN, patient organizations, and more. It took over one year to get the project up and running, but the GGB theme-based institute can now count on 130 institutions across 35 countries (27 Member States, 7 other European countries and Canada).

The European Commission has supported this project from the outset and is committed to this cause with already over one billion euros invested in various projects on this theme. It will fund the EJP RD to the tune of €55 million, a figure that the Member States will match over five years.

Officially launched in January 2019, the project is managed by an eight-person Steering Committee (four Project Managers, one Finance Officer, one Communications Manager and one Team Assistant) led by GGB Assistant Director, Daria Julkowska.

A four-pillar organization

The EJP RD will be organized into the following four pillars:

  • The financial support of research into rare diseases, involving the funding agencies. An initial call for projects has already been launched, whose €27 million budget should make it possible to support around 25 multinational projects intended to improve rare disease diagnosis and treatment. One such call for projects is planned for each of the five years of the program. A further call for projects will also be launched to promote the networks with a €2 million budget over five years. These projects should make it possible to create new networks around rare diseases which have received little attention or to facilitate existing ones. Public-private partnerships will also be sought and developed in order to fund projects focused on the development of new treatments or diagnostic methods. 
  • A virtual platform pooling data and resources needed to accelerate research: registries, biobanks, databases, bioinformatics tools and more. "Many tools exist already but will be more visible and accessible. And new ones will continue to be added," specifies Julkowska.
  • The training of the patients, researchers and personnel concerned by rare diseases. The catalogue will include the many courses already offered by the EJP RD's partners, with additional training provision emerging in line with needs. The platform also envisages a rare disease research e-learning platform, providing free training that will lead to a qualification, to learn how to set up a clinical trial, create a registry, build a cohort, perform translational research and more.
  • The promotion of translational research and clinical trials,  to help facilitate the transition from fundamental research to applied and clinical research, in order to accelerate drug development. It will involve European infrastructures dedicated to translational research (EATRIS) or multinational clinical trials (ECRIN), as well as foundations which are accustomed to public-private partnerships (such as the Téléthon). The projects conducted as part of the calls for projects of the first pillar, and also those from the E-RARE program, will be studied to evaluate the possibilities for clinical application and to aid their development and funding.
1 : Financial support for research, 2 : Data and ressources platform, 3 : Training, e-learning, 4 : Translational research and clinical trials

In order to successfully complete these missions, the Steering Committee representing the 130 institutions will use Europe’s existing resources, networks and experience in rare diseases – such as RD-Connect, ERN, E-Rare, Orphanet – and research infrastructures – such as ELIXIR, BBMRI, EATRIS, ECRIN and others. It will also use the recommendations of the Scientific Committees of the International Rare Diseases Research Consortium (IRDiRC), whose experts identify the areas forming obstacles to research in this field and produce recommendations for the players involved (funding parties, public health agencies, pharmaceutical companies, etc.). The international scale of this consortium makes it possible to take into account the progress of all the continents implicated in the domain, and also to pool research efforts.

Five years from now, EJP RD will have pooled the various necessary and useful components, which will have certainly become essential to researchers studying rare diseases. This is the objective of the team, which is already thinking about how to ensure the program’s sustainability.