In the European Union, a rare disease is one that affects no more than 1 person in 2,000.  Between 6,000 and 8,000 different rare diseases affect an estimated 30 million people in the EU.

The area of rare diseases has been long recognised as a field where EU and international collaboration is an indispensable condition to progress. 

The EU has supported the field extensively through its research and innovation framework programmes, with more than €2.4 billion made available from 2007-2020 under the Seventh Framework Programme (FP7) and Horizon 2020, to more than 440 projects on multinational research consortia in the area of rare diseases.

These projects span across all medical areas i.e. neurological, immunological, metabolic diseases or rare cancers, and contribute to the understanding of the causes and characteristics of rare diseases, to develop new diagnostics and therapies for patients and to promote best practices for use in hospitals and healthcare systems.

Such collaborations allow researchers, clinicians, companies (including SMEs) and patient organisations to pool resources, data and complementary expertise, which no individual country could achieve alone.

Horizon Europe (2021-2027), the new research and innovation funding programme, will continue to support these efforts. Notably, a proposed European Partnership on rare diseases is expected to catalyse a systemic transformation in the area, with the goal of improving the quality of life for people living with a rare disease.

In addition to EU-funded collaborative projects, specific initiatives offer a solid framework for enhanced cooperation in the area.

European Joint Programme on Rare Diseases

The EU has supported the coordination between research funders across Europe and beyond. The launch in January 2019 of the European Joint Programme on Rare Diseases (EJP RD) marked an important milestone in Europe.

EJP RD is creating a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation. EJP RD pools resources at national and European level at a scale never achieved before.

It gathers research funders, universities, research organisations and infrastructures, hospitals and patient organisations from more than 135 institutions in 35 countries, including 26 out of 27 EU countries.

The EU contributes €55 million out of a total investment of over €100 million. Importantly, EJP RD involves the 24 European Reference Networks, representing more than 1500 units that provide highly specialised care across Europe on complex or rare diseases conditions.

European Rare disease research Coordination and support Action Consortium (ERICA)

A new consortium, the European Rare disease research Coordination and support Action(ERICA) is starting its work in March 2021, with the aim to coordinate the clinical research activities of the European Reference Networks  (ERNs).

ERICA unites the expertise of the 24 ERNs and will create a collaborative platform to share knowledge and good practices through the assembly of transdisciplinary research groups across the different medical areas.

International Rare Diseases Research Consortium (IRDiRC)

The European Commission has been actively driving the international research collaboration and coordination in the field of rare diseases research. In 2011, together with the US National Institutes of Health, the Commission launched the International Rare Diseases Research Consortium (IRDiRC), in order to foster and coordinate international efforts, with the ultimate goal to accelerate medical breakthroughs for people affected by rare diseases.

The vision of IRDiRC is to benefit all people living with a rare disease by: diagnosing within one year all patients coming to medical attention, with a suspected rare disease; contributing to the development of 1000 new therapies; and assessing the impact of diagnoses and therapies on rare diseases.

Marking the 10 years anniversary of the Consortium, let us take stock of IRDiRC’s achievements thus far and hear first-hand accounts from medical professionals, researchers and people living with a rare disease on how valuable the work of the Consortium is.