The term rare applies to those diseases that affect a limited number of people, and have a prevalence lower than a legislatively determined threshold in each country. In the EU, this threshold is set at 0.05% of the population, i.e. one case per 2,000 inhabitants. (In the United States a disease is considered to be rare when it has been diagnosed in fewer than 200,000 individuals in the population, i.e. approx. 0.08%).
Rare diseases create particular problems because they are rare, serious, frequently chronic and sometimes progressive, and have an onset often at birth or during childhood.
Many who suffer from rare diseases find it difficult to be diagnosed, to obtain information or to be given a referral to qualified specialists. They also have difficulty obtaining access to effective treatment, social and medical care for the disease, coordinating basic treatment with that provided at hospitals, preserving their autonomy, and participating in the labour market as well as in social and community life.
We are dedicating our efforts to the treatment of three rare diseases.