Rare diseases

In the European Union, a rare disease is one that affects no more than 1 person in 2000. Over 6000 distinct rare diseases affect up to 36 million EU citizens

The area of rare diseases has been long recognised as a field where EU and international collaboration is an indispensable condition to progress. The first “ERA-Net E-Rare” - coordination of agencies jointly funding rare diseases research - was for example launched under the 6^th EU research and innovation framework programme (FP6).

The EU has further supported the field extensively through its framework programmes, with more than €3.2 billion made available from 2007-2020 under the 7^th Framework Programme (FP7) and Horizon 2020, to more than 550 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 current research and innovation funding programme, continues to support these efforts. Notably, a proposed European Partnership on rare diseases to start in September 2024 (ERDERA proposal) 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.

A funding call on new therapies for rare diseases also enabled 9 new projects to start in 2023 and 2024 for different groups of diseases, while 2 other new projects will deal with modelling and simulation to address regulatory needs in the development of orphan and paediatric medicines.

European Joint Programme on Rare Diseases

The EU has supported the coordination between research funders across Europe and beyond. Launched in 2019, the European Joint Programme on Rare Diseases (EJP RD) is creating a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation, pooling resources at national and European level.

EJP RD gathers research funders, universities, research organisations and infrastructures, hospitals and patient organisations from more than 135 institutions in 35 countries (26 in the EU). The EU contributes €55 million out of a total investment of over €100 million. Importantly, EJP RD involves the 24 European Reference Networks (ERNs).

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

The consortium European Rare disease research Coordination and support Action (ERICA) started its work in 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 creates 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.