They are diseases, usually inherited, that are life threatening or cause chronic disabilities, but affect such a small number of patients in order for combined efforts to be required to:
- Reduce the number of people who suffer from such diseases
- Prevent the death of newborns or children caused by them
- Preserve the quality of life and socioeconomic potential of the patients
In the EU, rare is considered every disease that affects less than 5 in 10000 people. This number may seem small, but it translates into approximately 246000 patients in the 27 EU Member States. Most of the patients suffer from very rare diseases that affect 1 in 100000 people or more. It is estimated that there are 5000 – 8000 different diseases in the EU today from which 27 – 36 million people suffer, i.e. 6 – 8% of the population.