People with rare diseases [What Europe does for you]

With European elections coming up in May 2019, you probably want to know how the European Union impacts your daily life, before you think about voting. In the latest in a series of posts on what Europe does for you, your family, your business and your wellbeing, we look at what Europe does for people with rare diseases.

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Do you, or someone you know, suffer from a rare disease – that affects fewer than 5 in 10 000 people? Most rare disease patients suffer from even rarer conditions, affecting only 1 person in 100 000 or more. However, as there are over 5 000 rare diseases, the number of people suffering from them is high – it is estimated that 30 million Europeans live with a rare disease.

Most rare diseases are of genetic origin and have no cure. They can be life-threatening, complex and disabling. Often, correct diagnosis and treatment are established late. Medical expertise is scarce and scattered around the EU. This is where European cooperation can help, to pool resources on rare diseases to address these challenges.

The EU provides funding for patients’ organisations that connect patients, families, policy-makers and healthcare professionals. European laws have created incentives for researchers and companies to develop treatments, or what are known as ‘orphan drugs’ for rare diseases. To exchange information and provide support on complex or rare diseases that require highly specialised treatment and a concentration of knowledge and resources, the 2011 EU Directive on Patients’ Rights in Cross-border Healthcare established European Reference Networks of healthcare providers across Europe.

The EU also supports initiatives which foster diagnosis and registration of rare diseases, such as Orphanet and the European Platform on Rare Diseases Registries. Moreover, the EU finances scientific projects on rare diseases through its Horizon 2020 research programme.

Further information

• EPRS publication on ‘European Reference Networks on rare diseases’, http://www.europarl.europa.eu/RegData/etudes/BRIE/2017/603975/EPRS_BRI(2017)603975_EN.pdf
• Orphanet: a portal for rare diseases and orphan drugs, http://www.orpha.net/consor/cgi-bin/Education_AboutOrphanet.php?lng=EN
• Horizon 2020 research projects on rare diseases, https://cordis.europa.eu/search/result_en?q=’rare’%20AND%20’diseases’%20AND%20programme/code%3D’H2020
• European Commission’s Directorate General for Health and Food Safety website, https://ec.europa.eu/health/rare_diseases/policy_en