Rare Disease Day, 29 February, marks a moment when an estimated 30 million people living with rare diseases across Europe gain a louder voice. Europe now has a generational opportunity to scale up programmes capable of improving millions of lives.

A disease is considered rare when it affects fewer than one in 2,000 people. 75% of rare diseases affect children, while 70% have their onset during childhood.

At the same time, over 90% of the more than 7,000 rare diseases do not have an approved treatment option, while 70% of people with rare diseases wait more than one year to get a confirmed diagnosis.

A new data-led, 360-comprehensive strategy is called for by rare disease experts. In this Special Report, we look at the issues affecting rare disease patients, and the emerging roadmap to improve the clinical pathway.