The activity of the Istituto Superiore di Sanità (ISS) on rare diseases was institutionalized in 2001 with the establishment of the National Register of Rare Diseases (DM279/01), the first important surveillance tool to understand the epidemiology of these diseases and support national and regional planning. Hence, numerous activities were developed and will be developed to give concrete answers to rare patients and their families. In 2008 the Centre was established within the ISS (GU No. 157 7/4/2008). It is perfectly aligned with the ISS's mandate to protect public health and with the idea of optimizing and enhancing the skills and expertise present to respond effectively to the real needs of citizens. The Centre provides for the integration of scientific research with the functions of coordination and technical-scientific control, public health activities, surveillance and monitoring of the National Network of Rare Diseases, through the National Register. The Centre operates in all phases of translational research, trains national health service workers, promotes the quality of diagnosis and treatment, provides information on services and regulations of interest, promotes the social inclusion of patients and their empowerment and participates in the development of community and international programs on rare diseases.
Lines of activity:
- monitoring and surveillance of rare diseases through the development and updating of Registries to obtain increasingly detailed epidemiological information, also useful for estimating diagnostic delay, health migration and supporting clinical research
- prevention activities, in particular primary and secondary. The National Center for Rare Diseases (CNMR) has devised a global primary prevention strategy for congenital malformations (CD), focused on evidence-based actions and whose impact and effectiveness can be evaluated against the objectives. With regard to secondary prevention, the CNMR is part of the Coordination Centre on Neonatal Screening, established by Law no. 167 of 19 August 2016, and also has the burden of initiating and managing the National Archive for Extended Neonatal Screening (ANSNE), which collects and makes available data on the outcomes of newborn screenings for a verification of the effectiveness of the paths undertaken and the costs incurred, which will be functionally linked with the National Rare Diseases Registry. In addition, as part of the inclusion of the new LEAs, a CCM project on neonatal screening of hearing and vision has been launched.
- research initiatives on diseases without diagnosis, undertaken in recent years starting from the coordination of the bilateral Italy-USA project "Undiagnosed rare diseases". In this context, a Temporary Mission Structure (SMT) on rare and undiagnosed diseases coordinated by the Centre has been developed within the ISS.
- information activities to the citizen on all issues related to rare diseases, especially through the Green Phone rare diseases,the development and updating of a dedicated portal(www.malattierare.gov.it)and the organization of initiatives and events
- activities related to External Quality Controls (CEQ) of genetic tests and sweat testing. The Centre carries out CEQ activities of genetic tests since 2001 and sweat testing since 2014 as an institutional activity made for third parties (G.U. general series n.199 of 28/08/2009 with subsequent amendment G.U. General series n. 82 of 09/04/2015 – paragraphs 42.1-42.4). aimed at improving the quality of test results used in clinical practice
- experimental research activity, which is carried out in studies on molecular mechanisms, on the functional genomics of rare diseases, on cellular models of rare diseases and on studies of rare diseases without diagnosis
- laboratorium Health Humanities. The Centre designs and develops research, training and communication activities in the context of Health Humanities in the dedicated laboratory, both to promote the active participation of patients and the improvement of the functioning of the care system and to raise awareness of rare diseases in society. The Health Humanities constitute a meeting area between the arts, and humanistic culture in general, and the health and social sciences, in order to promote health. In the Health Humanities laboratory of the Centre a specific focus is reserved for narrative medicine and the literary, artistic and musical competition "The Flight of Pegasus".