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 http://ec.europa.eu