News Alert

News Alert

The European Commission and the US announce joint research efforts on rare diseases

Brussels, 28 October 2010

The European Commission and the US announce joint research efforts on rare diseases

The European Commission and the US National Institutes of Health (NIH) announced today at a high-level conference in Reykjavik in Iceland their intention to join forces on rare diseases research. The two institutions plan to coordinate their research funding on rare diseases and to make major investments in this research field in the years to come. The objective is to accelerate medical breakthroughs for people affected by rare diseases – which is the case for 6 to 8 % of the EU population. The European Commission also announced that it will earmark in 2011 more than €100 million for research and innovation on rare diseases, including clinical trials of promising treatments already stemming from European research. This will be the largest single investment in this research field done by the European Commission.

An unprecedented cooperation on rare diseases between the EU and the US
For the first time, the European Commission and the NIH will collaborate on rare diseases research funding. The cooperation will include bringing together ongoing research projects from the EU and the US to collaborate on particular rare diseases, and establishing common funding priorities for future research in the field, including coordinated clinical trials. Future European projects funded by the EU will complement their counterparts in the US, funded by the NIH, and designed to work together.

Joining forces is essential to address rare diseases
A rare disease is a life-threatening or chronically debilitating disease affecting no more than 5 people per 10,000 in Europe. The rarity of individual cases of these diseases and their vast diversity resulted in low public awareness and recognition, and caused the failure of market-driven development of drugs and treatments. Collaboration is vital to ensure that knowledge is shared and resources combined as efficiently as possible, in order to tackle rare diseases effectively.
"Too many patients spend years of uncertainty before their conditions are correctly diagnosed and treated. This not only extends the patient's suffering but puts also considerable strain on the family. The opportunity to identify and understand the diseases, with a view to developing treatments and cures, should not be neglected. Joining forces is the best way forward.", stated Béatrice de Montleau, board member of the European Organisation for Rare Diseases (EURORDIS) as well as the French Association against Myopathies (AFM-Telethon), and mother of a child affected by Duchenne Muscular Dystrophy.

Next steps
The European Commission and the NIH will meet on a regular basis to further explore opportunities for cooperation and decide on the course of joint actions. The next meeting is expected to take place in Washington in early 2011.

Rare diseases have emerged as a serious public health concern and are a priority in the EU health policy and programmes. In 2009, EU member states called for actions to pool the resources and knowledge available at national levels as well as to coordinate future activities in research and development, including the cooperation with other countries in the world.
From 1998 to 2010, the EU has funded a total of 156 research projects on rare diseases or linked to rare diseases through the Framework Programmes for Research and Development, with a total investment exceeding €500 million.

More information:
ORPHANET – The portal for rare diseases and orphan drugs:
EURORDIS – European Organisation for Rare Diseases:
EUCERD – The EU Committee of Experts on Rare Diseases:
Rare Diseases in Europe:
NIH Office of Rare Diseases Research:
Rare Disease Day, 28 February:
Testimonials - Living with a Rare Disease:

Charlotte Gugenheim, Press officer, European Commission, Research DG

Indridi Benediktsson, Scientific Officer, European Commission, Research DG


Annex – Questions and answers on rare diseases and examples of EU-funded research projects

What is a rare disease?

A rare disease is a life-threatening or chronically debilitating disease affecting in the EU no more than 5 people per 10 000.
That still means there are at most 246 000 persons afflicted by a given rare disease in the EU. As the number of distinct known rare diseases is estimated between 5 000 and 8 000, that means that about 29-36 million people in Europe at one point in life suffer from a rare disease. These patients constitute 6% to 8% of the total EU population.
Most are genetic diseases, but also include rare cancers, autoimmune diseases, congenital malformations, and toxic and infectious diseases. Examples of rare diseases are: mucoviscidosis, myopathies (muscular diseases), metabolic diseases and Wilson disease.

Are all rare diseases of genetic origin?
Most rare diseases are caused by genetic defects, but environmental exposure during pregnancy or later in life, often in combination with genetic susceptibility, is another cause.  Even though signs may be detected at birth or in childhood, more than 50% of rare diseases appear during adulthood. Some of the rare diseases can be very severe and life-threatening. Many are degenerative and affect patients in their physical capabilities, their mental abilities, and their behaviour.

Where do we stand in tackling these diseases?
Unfortunately, the causes of rare diseases are still often poorly understood, diagnosis is often delayed and therapeutic options are minimal or non-existent for most rare diseases.

How can research help?
A better understanding of the diseases is needed. For this, more specialists are needed, as well as more multidisciplinary approaches and better exchange of good practices. Screening for early diagnosis, followed by suitable care, can improve quality of life and life expectancy of people suffering from a rare disease. As advances are made in technologies for identification of disease susceptible persons, e.g. through newborn screening, or in the development of personalised medicines, the prospects for diagnosis and treatment of affected people become better.
Innovative medicines and advanced therapies (gene, tissue and cell therapies…) are in the pipeline and will become more and more present. Collaborations between companies and academia will become necessary, due to the increasing complexity of aspects that need to be taken into account.

How much is the EU investing in research on rare diseases?
From 1998 to 2010, the EU has funded a total of 156 research projects on rare diseases or linked to rare diseases through the Framework Programmes for Research and Development, with a total investment exceeding €500 million.



Number of projects funded

Total EU contribution









(until 2010)


(15 of them pending signature – end of 2010)

(including €88 m for 2010 projects)





Who does participate in EU-funded projects on rare diseases?
Research projects typically run for 3 to 5 years and involve academic institutions from different European and non-European countries, working together with clinical and industrial partners, including SMEs. These multidisciplinary projects could only be organised and supported at European level, so the FP brings an incomparable European added-value in the field. Projects supported address a variety of diseases and apply different approaches. For example, the development of new tools, techniques and procedures related to cell and gene therapies, tissue engineering and genetic testing, which hold great promises for future therapies to be applied widely in the whole rare diseases area, as well as in more common disorders.

What are orphan drugs?
Market incentives for the development of drugs for patients with rare diseases (so called orphan drugs) were created through EU law. Small biotech start-ups found in the development of orphan drugs an interesting niche. Recently some of the largest drug makers announced their intention to invest into this niche market too. The EU plans a review of the marketing conditions for orphan drugs across Europe, as the prices and availability of such drugs vary widely. 

What else can be done in the EU?
The Council of the European Union adopted on 9 June 2009 the “Council Recommendation on a action in the field of rare diseases”. The Recommendation concentrates on:
- supporting and strengthening the adoption of national plans and strategies for responding to rare diseases before 2013,
- improving recognition and visibility of rare diseases,
- encouraging more research into rare diseases, and
- forging links between centres of expertise and professionals in different countries through the creation of European reference networks in order to share knowledge and expertise and, where necessary, to identify where patients should go when such expertise cannot be made available to them.
The role of patient's organisations is also highlighted as particularly important.

Some examples of innovative EU-funded projects in the field of rare diseases

NMD-Chip - Development of targeted DNA-Chips for High Throughput Diagnosis of NeuroMuscular Disorders
The aim of NMD-Chip is to design, develop and validate new sensitive high throughput DNA arrays to efficiently diagnose patients affected by neuromuscular disorders. The tools originating from this project will allow the assessment of all known genes implicated in a group of diseases at once, and will provide fast results, cheaper than any "gene by gene" approach. Developing these NMD-Chips could allow the cost of molecular diagnostics to be decreased by a factor of 10. The project is focusing on Duchenne / Becker Muscular Dystrophies (DMD/BMD), Limb Girdle Muscular Dystrophies (LGMD), Congenital Muscular Dystrophies (CMD), and Hereditary Motor-Sensory Neuropathies and Charcot-Marie-Tooth Neuropathies (CMT).
Total cost €4.3 million, EU contribution €2.9 million
Partner institutions: INSERM (coordinator, FR), Institut de Myologie (FR), Karolinska Institute (SE), LUMC (NL), National Center for Public Health (HU), Newcastle University (UK), PartnerChip (FR), PhenoSystems (CH), Technische Universitaet Dresden (DE), University College London (UK), UNIFE (IT), University of Wuerzburg (DE)

Mitotarget - Mitochondrial dysfunction in neurodegenerative diseases: towards new therapeutics
The MitoTarget consortium is an EU funded consortium dedicated to finding therapies for Amyotrophic Lateral Sclerosis (ALS), among other mitochondrial disorders. It is coordinated by a clinical stage pharmaceutical industry and brings together 17 public and private partners. A phase III clinical trial has been initiated in 2010 to test olexosime, a novel treatment for ALS, and the results are expected in 2011.

Stephen Hawking, CH, CBE, FRS, FRSA, the British theoretical physicist, and a patron of the Motor Neurone Disease Association, said about Mitotarget:  “It is essential that as much support as possible is given to those who are diagnosed with ALS. Their needs are to live as long as possible in as fulfilling a way as possible. It is encouraging that the MitoTarget consortium is providing practical online support for all those affected as well as developing treatments for ALS with EU backing.”
Total cost €13.5 million, EU contribution €6 million

Partner institutions: Trophos, SA (coordinator, FR), Université de la Méditerranée (FR), University of Sheffield (UK), Eberhard Karls Universität Tübingen (DE), Johann Wolfgang Goethe-University of Frankfurt (DE), Assistance Publique – Hôpitaux de Paris La Pitié Salpêtrière (FR), Centre Hospitalier Universitaire de Nice (FR), Charité Universtitätsmedizin Berlin (DE), Medizinische Hochschule Hannover (DE), King’s College London (UK), Katholieke Universiteit Leuven (BE), Martin-Luther-Universität Halle-Wittenberg (DE), Centre Hospitalier Régional Universitaire de Montpellier (FR), Centre Hospitalier Régional Universitaire de Lille (FR), University of Ulm (DE), Centre Hospitalier Universitaire de Limoges (FR), Hospices Civils de Lyon (FR)