The ISS is the main scientific and technical public body of the Italian National Health Service. It combines research, training, consulting and surveillance activities for the interest of public health protection.

The ISS is responsible for the implementation of the Italian National Register of Rare Diseases and for coordination of the Italian National Network on Rare Diseases (both priorities of the Ministry of Health-National Health Plans 2003-2005 and 2006-2008). The Register aims at guiding the national and regional programming on rare diseases and serving as surveillance tool for the National Network on Rare Diseases. The objectives of this latter include the development of research activities (for the improvement of knowledge on rare diseases and the establishment of prevention programs). The ISS also manages Ministry of Health-funded research projects on rare diseases, which altogether stand for an overall budget of some € 3.5 million per year for the coming three years.