Rare diseases

Commission activities in the area of Rare diseases

Rare diseases are a priority area of research funding for the European Union. Further funding opportunities for rare diseases research are available in the Horizon 2020 work programme 2018-2020 for health, demographic change and wellbeing.

European Joint Programme on Rare Diseases (EJP RD), is expected to start on 1 January 2019, subject to successful conclusion of the grant preparation. EJP RD will implement an integrative research and innovation programme for rare diseases ensuring rapid translation of research results into clinical applications and uptake in healthcare for the benefit of the patients.

Rare diseases are life-threatening and chronically debilitating diseases. 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, more than 1 billion euro, has been made from FP7 and H2020 to more than 200 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.

E-RARE ERANET Co-fund supports 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 (IRDiRC)

There is a clear need for strengthened international collaboration in the area of rare diseases and rare diseases research. IRDiRC was launched in 2011 with the European Commission and the US national institutes of health as the initiating institutions. Today it has over 50 members from five 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.

The new IRDiRC vision is to enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention.

In order to work towards this bold and ambitious vision, IRDiRC has set three goals for 2017-2027:

  1. All patients coming to medical attention with a suspected rare disease will be diagnosed within one year if their disorder is known in the medical literature; all currently undiagnosable individuals will enter a globally coordinated diagnostic and research pipeline
  2. 1000 new therapies for rare diseases will be approved, the majority of which will focus on diseases without approved options
  3. Methodologies will be developed to assess the impact of diagnoses and therapies on rare disease patients