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Rare Diseases

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In the European Union, a disease is considered rare when it affects not more than 1 person in 2 000. This low prevalence is the common feature shared by all rare diseases, which altogether affect all biological systems. This nevertheless means that between 6 000 and 8 000 different rare diseases affect or will affect an estimated 29 million people in the European Union.

Rare diseases are often of genetic origin, usually chronically debilitating or even life-threatening, the impact on the quality of life of affected patients (of whom, many are children) and their family members being significant.
The specificities of rare diseases - limited number of patients and scarcity of relevant knowledge and expertise - single them out as a distinctive domain of very high European added-value. European cooperation ensures that scarce knowledge can be shared and resources combined as efficiently as possible, in order to tackle rare diseases effectively across the EU as a whole (see Communication from the Commission on Rare Diseases , 11.11.2008).

Research on rare diseases presents remarkable interest: rare diseases can serve as models for more common diseases and the complexity of rare diseases often requires multidisciplinary innovative approaches. Successful models exist to support research on rare diseases in Europe, but funding dedicated to research on rare diseases, both at national and European level, remains limited with regard to the number of different rare diseases, and the current generally poor availability of diagnostic and therapeutic options. A wide implementation of successful models, potentially adapted to fit the state of the art in each Member State, would benefit the rare diseases community. In addition, there is a need for adequate coordination of national and European efforts in order to optimise the use of scarce resources and create synergies.

To date, a very limited number of so-called orphan drugs are marketed, leaving the majority of rare diseases without any effective treatment. In order to translate research results into the marketing of orphan drugs for the benefit of patients, it is important that the pharmaceutical industry participates in the development process. This requires strengthening the links between academia and industry, so that industry better capitalises on academic research results to translate these into new diagnostic tools and therapies. There is also a clear need for strengthened international collaboration, and an International Rare Diseases Research Consortium (IRDiRC) was launched in 2011 with the European Commission and the US National Institutes of Health as the initiating institutions.

The focus of rare diseases research in the Seventh Framework Programme (FP7; 2007-2013) is on Europe-wide studies of natural history, pathophysiology and on the development of preventive, diagnostic and therapeutic interventions.

By identifying and mobilising the critical mass of expertise the programme will:

  • shed light on the course and/or mechanisms of rare disease;
  • test diagnostic, preventive and/or therapeutic approaches;
  • alleviate the negative impact of the disease on the quality of life of patients and their families

The Sixth Framework Programme (FP6; 2002-2006) brought an incomparable European added-value in the field of rare diseases, through the support of multidisciplinary collaborative projects. A number of research areas are well covered: neuromuscular diseases and myopathies, skin and kidney disorders, autoimmune and metabolic diseases, rare cancers, mental and neurological disorders, respiratory diseases. In these areas, there is no doubt that the funded projects mobilise top researchers, address the fragmentation which is a hallmark in the field of rare diseases, and bring forward knowledge in the related fields.

In order to best use the limited resources dedicated to research on rare diseases, it is important that coordination be ensured in a general and transparent way. FP6 launched actions in this direction, notably:

  • a specific support action (SSA) project OrphanPlatform referencing national and European research projects that aims at the identification of research projects at a near-to-the-market stage of development. It offers a platform for collaboration between academic and industrial partners, and allows patients to signal their interest in participating in current/future research.
  • an ERA-NET project E-Rare that aims to coordinate existing national research programmes on rare diseases in order to overcome some of the limitations imposed by scattered funding and fragmentation between national programmes.

Rare diseases research in the FP6 also allowed to involve patients' organisations (by participation in projects - including co-sponsoring, agenda setting, workshops and conferences). This process was mutually cross-fertilising and permitted to bridge the gap between (eminently complex rare disease) science and the patients.

Further information on rare diseases projects can be found on CORDIS.

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