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Key Research Areas

Rare diseases

The last day of February every year is Rare Disease Day. Up till February 2017 Horizon 2020 has provided funding of more than 200 million euro for rare diseases research. Further funding opportunities for rare diseases research are available in the Horizon 2020 Work Programme 2016-2017 for Health, demographic change and wellbeing.

Many rare diseases cause chronic health problems or are even life-threatening. Genetic factors play a role in a majority of these diseases. The impact on the quality of life of affected patients, of whom many are children, is significant.

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 30 million people in the European Union.

Major investment, close to 900 million euro, has been made from FP7 and H2020 to more than 160 collaborative projects related to rare diseases. Funded projects cover nearly all fields of medicine, e.g. molecular genetics, metabolic diseases, neurology, neuromuscular and musculoskeletal disorders, cardiovascular, haematological disorders, immunology, cancer, infectious diseases, nephrology, urology, mental health, ophthalmology and dermatology. The EU funding facilitated the formation of multidisciplinary teams from universities, research organisations, SMEs, industry and patient organisations from across Europe and beyond.

The EU maintains a strong commitment to funding rare disease research under Horizon 2020. Moreover, the E-RARE ERANET Co-fund is currently publishing joint calls for rare diseases with a view to better align national programmes.

To date, a limited but increasing number of so-called orphan drugs (drugs for rare diseases) are reaching patients. However, the majority of rare diseases are still without any effective treatment. In order to translate research results into approved 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 to translate these into new diagnostic tools and therapies. Research on rare diseases is also important since rare diseases can serve as models for more common diseases and the complexity of rare diseases often requires multidisciplinary innovative approaches.

International Rare Diseases Research Consortium

There is a clear need for strengthened international collaboration in the area of rare diseases and rare diseases research. The 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. Today it has over 40 members from four continents and the membership continues to grow.

The ambitious goals of IRDiRC are that 200 new therapies and means to diagnose most rare diseases should be available by the year 2020 thanks to the strengthened collaboration among the IRDiRC members. With IRDiRC's first objectives being reached ahead of time, the 3rd IRDiRC conference held in Paris 8-9 February 2017 dedicated time to reflect on new goals for the initiative. These goals will be further discussed by the consortium and will be presented later this spring.