Rare diseases


Rare diseases – what are they?

Life-threatening or chronically debilitating diseases – mostly inherited – that affect so few people that combined efforts are needed to:

  • reduce the number of people contracting the diseases
  • prevent newborns and young children dying from them
  • preserve sufferers' quality of life and socio-economic potential.

In EU countries, any disease affecting fewer than 5 people in 10 000 is considered rare. That number may seem small, but it translates into approximately 246 000 people throughout the EU's 28 member countries. Most patients suffer from even rarer diseases affecting 1 person in 100 000 or more.

It is estimated that today in the EU, 5-8000 distinct rare diseases affect 6-8% of the population – between 27 and 36 million people.

What is the EU doing?

Helping to pool scarce resources that are currently fragmented across individual EU countries. Joint action helps patients and professionals share expertise and information across borders. Specific measures include:

Patient organisations are particularly important because they provide additional incentives for developing orphan drugs  to combat rare diseases.

Legal basis of EU policy