European Commission to launch knowledge-sharing platform for rare diseases

To support better diagnosis and treatment, the European Commission is launching a new online knowledge-sharing platform for more than 30 million Europeans living with rare diseases.

Rare diseases can affect individuals from birth, like cystic fibrosis, or it can develop later in life, like Huntington’s disease. Regardless of the large total numbers of those affected in Europe, an effective knowledge-sharing platform is not currently available and information on effective diagnosis and treatment strategies are not collected in a uniform way and are often not shared among registries or across countries. As a consequence, patients more than often suffer alone with little or no hope of being cured, but the European Commission is looking to change this.

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Rare diseases in the Finnish landscape

Health Europa introduces the New Modalities Ecosystem, which will exploit Finnish expertise to deliver new treatments and technologies for rare diseases.

The New Modalities Ecosystem – launched by Orion and supported by Business Finland – brings academia together with industry to hep improve understanding of disease pathology and contribute to the development of better treatments, beginning with rare diseases that are part of the Finnish disease heritage, i.e. genetic diseases that are significantly more common in Finland than they are in any other population.

One such disease is mitochondrial recessive ataxia syndrome (MIRAS), which is defined by Orphanet as a ‘rare mitochondrial DNA maintenance syndrome characterised by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders’.

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One-year anniversary of the European Reference Networks for rare diseases

A report by Vytenis Andriukaitis, European Commissioner for Health and Food Safety:

Elisa from Alessandria in Italy suffers from osteogenesis imperfecta. This rare genetic disease causes brittle bones and affects only one in 15 000 people. Elisa, aged 30, was diagnosed with the disease as a small child. “I couldn’t play like other children” she recalled, “because if I fell, I would break something”. A year ago, when ERNs were just about to begin their work, we asked Elisa what she was expecting from them. “More research, for the people, for the children who are being diagnosed, to try and improve their quality of life” she said.

As a medical doctor, I have too often been witness to tragic stories from patients with rare or complex diseases. Having been diagnosed young, Elisa is luckier than most. Many patients are left in the dark for years, unable to find an accurate diagnosis let alone appropriate treatment. It is also a frustrating situation for doctors, who want the best possible results for their patients.

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Sharing medical expertise across Europe

The European Commission has initiated a series of European Reference Networks (ERNs) to share expertise in specific medical areas.

Any group of at least 10 healthcare providers established in at least 8 Member States were invited to submit an application to establish an ERN in a given field of expertise and 23 such groups have been approved.

The ERNs cover a wide range of medical fields, such as rare bone disorders, paediatric cancers and rare eye diseases.

More details and a full list of European Reference Networks are on the website

Rare Diseases and Social Services

The European Commission’s Expert Group on Rare Diseases has published its recommendations to support the incorporation of rare diseases into social services and policies.

Studies have demonstrated that the quality of life for someone with a rare chronic disease is worse than that of someone affected by more common chronic disorders, both physically and psycho-socially. They also show that patients with rare diseases have more negative experiences in terms of medical care and loss of social-economic activities.
Effectively coordinated integrated care and support services involving health, social and local services as well as the community at large, are essential to overcome the particular challenges of Rare Diseases and to ensure that people affected by a rare disease can secure the assistance they require from mainstream social and local services.
To read the full Recommendations on the website

European Reference Networks

European Reference Networks (ERNs) connect health care providers and centres of expertise to improve access to diagnosis, treatment and the provision of high-quality healthcare for patients with conditions requiring a particular concentration of resources or expertise no matter where they are in Europe.

For clinicians who network widely already, the ERN will represent the formalisation of their networking structures/practices in highly specialized healthcare. For those without specialist networking communities at present, ERNs will promote expertise and support health care providers in order to bring local, regional and national provision of healthcare closer to the patients.

For more information about European Reference Networks on the website


European Reference Networks

Imagine if the best specialists from across Europe could join their efforts to tackle complex or rare medical conditions that require highly specialised healthcare
and a concentration of knowledge and resources. That’s the purpose of the European Reference Networks.
Interest in becoming part of a Network can be registered from the 16 March 2016 and an “info day” regarding this call will be organised on 7 April 2016.
The call for ERNs will be in two waves:
1. ERN applicants wishing both to apply to become an ERN, and to apply for funding, should submit their application during the first period of the call (from 16 March 2016);
2. ERN applicants wishing to apply only to become an ERN, but not for funding, should submit their application during the second period of the call (opening in June 2016).
For more information about European Reference Networks, on the website
To read the Assessment Manual and Technical Toolbox for applicants to the Call, on the website

Orphan medicinal products

The European Commission has published an inventory of Union and Member State incentives to support research into, and the development and availability of, orphan medicinal products.
To date, the Commission has authorised 117 orphan medicines for the benefit of patients suffering from rare diseases, 82% of which are new active substances. Around 25 of the orphan marketing authorisations are from SMEs. The number of products authorised has grown over the years but remains limited bearing in mind the existence of 5,000 to 8,000 distinct rare diseases, only 1 % of which are currently covered by authorised medicinal products in the EU. The incentives of the orphan drug legislation are therefore essential to facilitate pharmaceutical development. The most frequently authorised medicinal products are treatments for pulmonary arterial hypertension, acute myeloid leukaemia, cystic fibrosis, multiple myeloma and acute or chronic lymphoblastic leukaemia.

This paper also includes information about the European expert group on rare diseases, the EU funded research on rare diseases and examples of national measures to support R&D and the availability of orphan medicinal products (e.g. reduction of taxes, pilot project on joint procurement, direct reimbursement after marketing authorisation).

To download the inventory on the website

Cross-border genetic testing of rare diseases

Methods for carrying out genetic testing are developing at an unprecedented and unforeseen rate.
Simultaneously, the overall number of genes linked to rare diseases (RD) is increasing. This means that it is now possible to provide an etiological diagnosis for several thousand RD(or ‘Mendelian’ diseases).
Although accurate diagnosis enables specific treatment for only a minority of RD at present, the outcomes of genetic testing may allow a better understanding of their prognosis and in all cases clarify the origin of the disease (preventing further unnecessary clinical and laboratory differential diagnostic investigations), and elucidate the mode of inheritance, thereby facilitating life planning and reproductive choices for the entire whole family.
To read the whole recommendation, on the website.

Rare diseases

A disease or disorder is defined as rare in the EU when it affects less than five in every 10,000 citizens. However, because there are so many different rare diseases – between 6,000 and 8,000 – between 30 and 40 million people in the EU, many of whom are children, suffer from rare diseases.

Most rare diseases have genetic origins while others are the result of infections, allergies and environmental causes. They are usually chronically debilitating or even life-threatening. The fragmentation of knowledge about rare diseases and the small numbers of patients affected by a single disease makes it indispensable to work across borders. One of the greatest challenges for sufferers of rare diseases and their families is getting a timely and correct diagnosis. This is an essential first step before treatment options can be explored and the European Commission has developed a number of initiatives to help member states.

One of these is the ORPHANET project which has developed a database listing the descriptions of almost 6000 rare diseases and has become the number one online source of information on rare diseases worldwide. This tool is an invaluable resource for clinicians, health professionals and patients seeking a diagnosis. It is also establishing European Reference Networks (ERNs) to facilitate cooperation between Member States in the development of diagnosis and treatment capacity to provide highly specialised healthcare for rare or low prevalence complex diseases or conditions.

As a result, patients will have easier access to expertise on rare diseases beyond their national border. There will also be national contact points where patients can receive information on where to find the most appropriate treatment for their disease, anywhere across the EU.

For more information about the EU’s policies on rare diseases, click here on