Since January 2019, the European Union has developed European Joint Programmes (EJP) for funding research on rare diseases, which aim to structure research on these diseases in Europe. These programmes are transnational and bring together major players in rare disease research in Europe. They are co-funded by the Member States. Europe is financing these projects to the tune of 55 million euros over five years. Funding for these programmes began in January 2020. In France, the Ministry of Research has designated the French National Institute of Health and Medical Research (INSERM) to support these programmes and patient associations at a European level. Accelerating the diagnosis and improving the understanding and mechanisms of these diseases is the aim of this approach.

• Supporting research in the field of rare diseases
• Providing access to a virtual platform of data and resources needed to accelerate research
• Ensuring the training of patients, researchers and staff involved in rare diseases
• Fostering translational research* and clinical trials
  *Translational Research: linking basic research with clinical trials to develop treatments and drugs

These programmes bring together a large number of scientific experts, both researchers and academic clinicians, working on rare diseases. University hospital facilities bring together the best specialists in these diseases and offer a work environment at the cutting edge of new technologies. European reference networks are also involved in these projects. They provide health professionals with access to expert assessments that may not be available in their own country. Finally, patient associations have become indispensable. The expert assessment of patients and their knowledge of their disease represents an invaluable added value for research work in these diseases and reinforces the legitimacy in the eyes of institutions.

• Treating rare diseases as defined by the European definition (less than 5 in 10,000 people)
• Transnational collaborations (minimum 4 EU member countries to which other countries listed as associate members may be associated).
• Interdisciplinary Research Projects
• Cover at least one of the following areas:
• Accelerate diagnosis
• Understand the disease and its mechanisms

In order to fulfil these missions, the institutions build on existing resources, networks and experiences in Europe in the field of rare diseases. The international dimension of these programmes makes it possible to take into account the advances of all the countries involved in the field and to pool skills and research efforts. In Europe (eligible members are EU members with other associate members including Switzerland, Czech Republic, Lithuania, Poland, Hungary, Slovakia, Estonia, Turkey and Canada).Non-listed countries (e.g. UK or Norway) may be associated but will not be eligible for funding under the EJP Programme.

Today ELA International is involved in 2 European programmes, for which it will receive funding to cover its shares as a partner. ELA’s involvement in these programmes gives the association a European dimension and represents a real added value for research institutions developing programmes on leukodystrophies.