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Knowledge of rare diseases (RD) is often scattered among many data collections and registries of patient cohorts. Therefore, assessing the burden of RD in the general population, developing appropriate policies and planning services for the care of RD patients is difficult. This study aimed at providing a systematic picture of RD occurrence in a population as big as 60 million. Data of diagnoses were certified and collected by a network of 247 specialized centres covering the whole Italian territory. Data received (about 200,000 records) were validated according to formal criteria and, where necessary, corrected by the data sources. Data of age at onset and sex distribution are given for about 400 diseases. Incidence and/or birth prevalence are given for 275 diseases and 47 disease groups, which, altogether, comprise a substantial part of the known rare diseases. Data quality, internal consistency, and external validity of the database have also been assessed and ways to limit the impact of some discrepancies were devised. The information provided by RNMR, cutting across such a wide range of RD, represents a unique coherent basis allowing the prioritization of relevant public health measures and research activities.

The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases