The Laboratory of Documentation and Research on Rare Diseases was created with the idea of bringing together different skills to help patients by encouraging the availability of up-to-date information and knowledge advancement. Since the beginning of its activities, a database on rare diseases has been established and research projects have been carried out for some of them. Very active efforts have been made in the field of dissemination and training. The Laboratory has collected clinical data on more than 31,000 patients and their families with more than 1,000 different rare diseases. These activities also made it possible, for some of the reported diseases, the implementation of clinical research trials. Great experience in implementing rare disease registers was developed.

The Laboratory staff is directly involved in the ongoing clinical research activities and contributes to the maintenance of the certified Biobank of Rare and Renal diseases.

Since 2001 is the Coordinating Centre of the Regional Network for Rare Diseases in the Lombardy Regionand collaborates with the Istituto Superiore di Sanità in Rome within the National Network for Rare Diseases.

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