THE NATIONAL CENTRE FOR RARE DISEASES

Key words: Rare diseases, Epidemiology, Quality of care

The National Centre for Rare Diseases was established in the year 2000 at the Istituto Superiore di Sanità, Italy. The primary objective of the Centre is to improve the quality of life of children affected by rare diseases, through the coordination of the activities of all the institutions involved in care and research on rare diseases at national level. To achieve this objective, the Centre promotes laboratory, epidemiological and health services research and supports the creation of National Registries, the development of quality standards for laboratory investigations and international research networking. The philosophy of the Centre attributes great importance to identifying the needs of the patients and their families and as a consequence to the collaboration with lay associations.