So-called rare diseases are the conditions affecting a small number of people in comparison with the general population and whose uncommonness means that they bring up specific questions. A disease may be rare in one region, but common in another. This is the case of thalassaemia, a genetic origin anaemia which is rare in Northern Europe but commonly found in the Mediterranean region. There are also many common diseases whose variants are rare.
In Europe a disease is considered to be rare when it affects one person out of every 2000. This figure may seem insignificant, but there are calculated to be from 5000 to 8000 different rare diseases (RD) affecting from 6% to 8% of the population, that is, from 27 to 36 million people affected in Europe . In the case of Spain, this means over three million people are affected.
Rare diseases are serious and usually chronic and progressive diseases. In most rare diseases the signs may be seen from birth or infancy, as is the case of proximal spinal muscular atrophy, neurofibromatosis, osteogenesis imperfecta, chondrodysplasia or the Rett syndrome. Over 50% of rare diseases nevertheless appear during the adult age, as occurs with Huntington’s disease, Crohn’s disease, Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, Kaposi sarcoma or thyroid cancer.
This is the setting in which CIBERER was conceived, with the aim of specifically empowering research into rare diseases, seeking answers and solutions in the benefit of those affected. CIBERER has unquestionably become established in its position as a national and international benchmark in RD, not only due to the excellence of its research work but also through transferring its results to the National Health Service and constantly generating points of encounter with both the industry and with the people affected and their associations.