The Italian National Centre for Rare Diseases: where research and public health translate into action

The Italian National Centre for Rare Diseases (CNMR) is the result of a strategic approach, which the National Institute of Health (ISS) has been developing for more than 10 years, to deal with the public health challenges associated with rare diseases (RDs). The CNMR was formally established within the ISS in 20081. Its mission is to promote and develop experimental research and public health actions, as well as to provide technical expertise and information on RDs and orphan drugs, for the prevention, treatment and surveillance of these diseases. It is also the national focal point for information and communication for patients suffering from one of several thousand RDs, and for their families, collaborating with the national organisations of patients suffering from RDs. The Centre employs a wide range of scientific and technical expertise from various fields (medicine, genetics, molecular biology, epidemiology, public health, psychology, sociology etc.) and holds a network of national and international collaborations, which allow the development of a sound and integrated approach to RDs. The CNMR provides expert advice to the Italian Ministry of Health (MOH), to the National Health Council, to the National Health Service (NHS), and collaborates with the Regions, which are responsible for the provision of health services in the Italian devolved health system. Expert advice on RDs is also provided at EU and at international level. Since its establishment, the Centre has developed into a lively and propulsive hub for experimental research, public health, information, communication and training on RDs in Italy, and for patient empowerment. In addition, it has contributed to networks and scientific boards at national, European and international level and has implemented a number of strategic projects on RDs. The Centre is in continuous evolution in order to follow closely the pace of science and research, the emerging needs of patients, the solicitations of policy makers, and the demands of the health system.