Research Policy and Actions

A disease is considered rare in the European Union (EU) when it affects no more than 1 person in 2 000. Rare diseases are frequently chronically debilitating or even life-threatening. While each rare disease has a low prevalence, the over 6 000 distinct rare diseases identified to date affect or will affect an estimated 30 million people in the European Union.

There is a lack of knowledge, diagnostics, and treatments available for rare diseases. Dedicated funding for rare disease research is limited and coordinated national, European and international research is needed to optimise scarce resources and scattered expertise. In Europe, the 2008 Commission Communication Rare Diseases: Europe's challenges and the 2009 Council Recommendation on an action in the field of rare diseases clearly identify research as a priority. The Council Recommendation states:

The development of research and healthcare infrastructures in the field of rare diseases requires long-lasting projects and therefore an appropriate financial effort to ensure their sustainability in the long term.

EURORDIS actively promotes rare disease research and has developed distinct position papers that delineate the expectations of the rare disease community. EURORDIS participates as partners in a number of consortiums, committees and agencies as well as specific research projects. 


Position Papers

The EURORDIS Position Papers in the area of rare disease research explore why research is crucial and outline key priority areas



The International Rare Diseases Research Consortium (IRDiRC) fosters international collaboration in rare disease research


EURORDIS Rare Barometer Programme

At the heart of the EURORDIS Rare Barometer Programme is the idea that the advocacy work of EURORDIS and its members should continue to be increasingly based on patient perspectives.


European Joint Programme for Rare Diseases

The European Joint Programme on Rare Diseases (EJP RD) brings over 130 institutions from 35 countries to create a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation.



RD-Connect is an integrated platform connecting databases, registries, biobanks, and clinical bioinformatics for rare disease research



RARE-Bestpractices is developing a sustainable networking platform for sharing best practices for the management of rare diseases



The EPIRARE project contributes to the creation of an EU platform for the collection of data on rare disease patients

The voice of rare disease patients in EuropeEURORDIS The international voice of people living with rare diseasesRare Disease International Bringing together patients, families and experts to share experiences in a moderated multi-language forum. RareConnect The Rare Barometer Programme is a EURORDIS initiative that carries out surveys to transform rare disease patients' experiences into figures and facts that can be shared with decision-makers.Rare Barometer An international awareness raising campaign taking place on the last day of February each year, Rare Disease Day is a EURORDIS initiativeRare Disease Day Join the largest gathering of rare disease stakeholders across Europe, at the biennial European Conference on Rare Diseases and Orphan Products. ECRD is a EURORDIS initiativeEuropean Conference on Rare Diseases