While an individual disease might be labeled as “rare”, the total number of persons in Europe suffering from identified rare diseases is large. Around 30 million people in Europe out of a population of 510 million are likely to suffer from a debilitating rare disease. This represents a huge unmet medical need and a significant public health challenge. 80% of rare diseases are of genetic origin and are often chronic and life-threatening often affecting newborns, children, and young adults.
In Europe, a disease is considered rare if fewer than 5 in 10,000 people have it. There are more than 6,000 rare diseases. One rare disease may affect only a handful of patients in the EU, and another touch as many as 245,000.
Very few medicines are available for these rare diseases. One of the reasons is that companies are less likely to recover the development cost for medicines for such small numbers of patients.