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Orphan diseases European

A disease or disorder is defined as rare in the EU when it affects less than five in every 10 000 citizens. Yet, because there are so many different rare diseases – between 6 000 and 8 000 – taken together they affect a significant share of the population. 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 impact of such diseases on sufferers, their families and carers is substantial and patients often go undiagnosed due to lack of scientific and medical knowledge or to difficulty in accessing expertise. 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. At the European Commission we take an integrated approach to further improve access to prevention, diagnosis and treatment for patients suffering from a rare disease throughout the European Union. We do this by:

… supporting actions for an early diagnosis

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. Commission action helps in several ways.

Firstly, the Commission has supported the ORPHANET project and Joint Action through its Health Programme. This has resulted in the ORPHANET database which, to date, lists the descriptions of 5 868 rare diseases, and has grown into 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.

The Commission is also well advanced in the establishment of European Reference Networks (ERNs), foreseen in the Directive on Patients’ Rights in Cross-border Healthcare which entered into force last October...

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Popular Q&A

What is orphan disease?

A disease that is relatively rare, for which the development of drugs is considered to be commercially nonviable.

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