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   Person in charge: Domenica Taruscio
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About us

National Centre for Rare Diseases

The National Rare Diseases Centre (CNMR), directed by Dr. Domenica Taruscio, is part of the National Rare Diseases Network. The Centre carries out scientific research and public health activities, both at national and international level.

The National Rare Diseases and Orphan Drugs Registers
The National Rare Diseases Register identifies the number of cases and their distribution on the national territory, being the central connection of the national clinical-epidemiological network. The National Orphan Drug Network aims at activating a surveillance system for all orphan drugs reimbursed by the National Health System. For further information, visit the specific sections of the National Rare Diseases Network and of the National Orphan Drugs Network.

Research
The Centre carries out experimental research on selected rare pathologies, included some tumors. This research activity is also carried out in collaboration with excellence national and international centres. The structure is involved also in epidemiological and socio-economic research activities.

Genetic tests
Considered the improvement and increasing use of tests, it is crucial to provide criteria and parameters to assure an high quality standard and reliability of these tests. For this purpose, in 2001 the CNMR started an external control activity to assess the quality of genetic tests carried out by public laboratories in the whole national territory. The aim of this activity is to assure validity, accuracy, precision and reproducibility of tests with a diagnostic purpose. Nowadays eighty laboratories participate to the activity. For further information visit the specific section.

Collaboration with the Associations
The high number of Associations of individuals affected by rare diseases are an important point of reference for dialogue and exchange of experiences. They have a fundamental role for patients and their families. The NRDC has established with the Associations several profitable collaborations on various projects. Particularly, it carried out studies to evaluate the accessibility to social and health services, healthcare and life quality of patients affected by rare diseases and their families For further information visit the specific section.

Folic Acid Promotion
Nowadays, one of the main examples of primary prevention in rare diseases is represented by the possibility of strongly reducing the incidence of congenital deformities and mainly neural tube defects, through an adequate periconceptional intake of folic acid. For further information visit the specific section.

European activities
Dr. Domenica Taruscio is the Italian representative in the Orphan Drug Committee (COMP). The Committee has been created inside the European Medicine Agency (EMEA) on the basis of the Regulation CE N. 141/2000, to the purpose of examining the orphan product designation requests. Nowadays the CNMR participates to some relevant European projects such as EUROPLAN, E-RARE and TEDDY. For further information visit the specific section.

Documents

Published 20-03-2008 in About us , last update 18-06-2008

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