What is a rare disease?

The Rare Disease Cause

More than 30 million Europeans are living with one of the over 6000 rare diseases.

A rare disease is defined as a disease that affects less than 1 in 2000 citiziens. Rare diseases are chronic, progressive, degenerative, disabling and ultimately life-threatening. 80% of rare diseases have genetic origins and many rare diseases affect children.

People living with a rare disease face many common challenges, such as delayed or inaccurate diagnosis, difficulty accessing care, financial burden and a tremendous feeling of isolation for the patient and his or her family. Lack of knowledge or access to expertise and services often increases these challenges, especially in cases where it is possible for patients to maintain a normal quality of life if their disease is diagnosed on time and managed well.

The European Commission has made rare diseases a public health priority, as the nature of these challenges calls for a pan-European response.