Focus on European funding for research on rare diseases

Rare diseases affect around 30 million people in Europe, yet each one affects less than 5 out of every 10,000 people. These figures reflect the multiplicity and diversity of these diseases. Due to a lack of knowledge, patients are faced with the difficulty of diagnosis and therapeutic wandering, despite sometimes severe handicaps.

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.

Four main objectives:

  • 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

Who can benefit from these programmes?

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.

The terms and conditions:

  • 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.

Involving the knowledge and experience of patient organisations in these programmes helps to accelerate research and development.

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.

  • The first programme is about Alexander disease. The objective is to better understand the process of the outbreak of the disease and its development. It is led by Elly Hol, Professor of Neuroscience at the University of Utrecht in the Netherlands. It involves 7 research teams from 6 countries (Sweden, Czech Republic, Israel, Spain, Luxembourg, New Zealand) and will last 3 years. The total amount of this programme is €1,287,050. ELA will be funded by € 24,550 to enable its participation in five meetings and to welcome two researchers from each partner team to the annual ELA Families / Researchers conference for the duration of the programme.

  • The second NG4Leuko programme is led by Vivi Heine, Pediatrician in Neuroscience at the University Medical Centre of Amsterdam in the Netherlands. This research programme will study the interactions between neurons and glia* in certain forms of hypomyelinating leukodystrophies including Vanishing White Matter (VWM) syndrome, metachromatic leukodystrophy (MLD) and Canavan disease. It has 5 research teams spread over 5 European countries (Italy, Germany, France, Portugal, Luxembourg), and it will take place over 3 years.The total amount of this programme is €1,282,000. ELA is funded by to €40,000 to cover the organisation of a scientific conference with around 20 participants and the development of a dedicated web page(

The involvement of patient organisations in these European funding programmes underlines the importance of their presence and expertise. Their proximity to families and the general public and their ability to support these research programmes through communication actions are a real added value.

Despite the novelty of these programmes, ELA International has already been approached twice in 2019 and has received the necessary funding to participate. Thanks to these European programmes, ELA International strengthens its position in international research for rare diseases and becomes a key partner. The pooling of knowledge, expertise, research work and the use of all resources make it possible to improve the diagnosis and management of these diseases.

These programmes will bring together all the useful and necessary elements essential for researchers studying rare diseases.

*Cells that surround the neurons of the nervous system and participate in the control of the chemical environment by supplying nutrients and eliminating their waste products.