Rare diseases are those that affect a small number of individuals (less than 5 per 10 000 inhabitants). To date, approximately 7000 rare diseases have been described, and 80% of them are of genetic origin. In Spain, around 3 million people are affected with these conditions, whereas in Europe the estimated number is 24 to 36 million (EURORDIS), and in the United States, 25 million (NORD).
Rare diseases are characterized by a wide variety of symptoms, a complex diagnosis, and a chronic and disabling nature. Nonetheless, some of these conditions can be treated if they are detected in time; hence, it is extremely important to achieve a correct diagnosis. To this end, it is essential to promote new technology and implement the advances attained in laboratories devoted to studying these conditions. In addition to increasing diagnostic capability, this policy will facilitate research that can lead to therapeutic benefits for these patients.
CDB has two research teams within the Biomedical Research Network for Rare Diseases (CIBERER Centro de Investigación Biomédica en Red de Enfermedades Raras), one focused on hereditary metabolic diseases and the other on the genetics of rare diseases. Their mission is to promote and protect health by fostering basic, clinical, and translational research in rare diseases.