The activity of the Italian National Institute of Health (ISS) on the topic of rare diseases was institutionalized in 2001 with the birth of the National register of rare diseases - DM279 / 01 (link to the Italian website), the first important surveillance tool to understand the epidemiology of these pathologies and support the national and regional programming. Numerous activities developed around it that intend to give concrete answers to patients and their families. In 2008, the National center for rare diseases was established within the ISS (G.U. No. 157 7/4/2008). It is perfectly aligned with the ISS mandate for the protection of 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 Center 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 rare disease network, through the national registry. The Center operates in all phases of translational research, trains the operators of the National Health Service, promotes the quality of diagnoses and treatments, 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 the registers 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 (MC), focused on evidence-based actions and whose impact and effectiveness can be assessed against the objectives. With regard to secondary prevention, the CNMR is part of the coordination center on neonatal screening, established with Law No. 167 of 19 August 2016, and also has the burden of starting and managing the National Extended Neonatal Screening Archive (ANSNE), which collects and makes available the data on the results of neonatal screening for a verification of the effectiveness of the paths taken and the costs incurred, which will be functionally linked with the National Register of rare diseases. In addition, as part of the insertion of the new LEAs, a CCM project has been launched on neonatal hearing and vision screening
- 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 CNMR was developed within the ISS
- information to citizens on all issues relating to rare diseases, especially through the Rare diseases help line, the development and updating of a dedicated portal www.malattierare.gov.it (link to the Italian website) and the organization of initiatives and events
- activity related to external quality controls (CEQ) of genetic tests and sweat tests. The CNMR carries out CEQ activities of genetic tests since 2001 and sweat tests since 2014 as an institutional activity rendered for third parties (OJ general series n.199 of 28/08/2009 with subsequent modification of OJ 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
- Health humanities laboratory. The CNMR 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 improve the functioning of the care system and to sensitize society on the issue of rare diseases. The Health humanities constitute a meeting area between the arts, and humanistic culture in general, and the health and social prejudices, in order to promote health. In the CNMR Health humanities laboratory, a specific focus is reserved for narrative medicine and the literary, artistic and musical competition "Il Volo di Pegaso"