Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.

ABSTRACT:

Background

For a number of persons with rare diseases (RDs) a definite diagnosis remains undiscovered with relevant physical, psychological and social consequences. Undiagnosed RDs (URDs) require other than specialised clinical centres, outstanding molecular investigations, common protocols and dedicated actions at national and international levels; thus, many "Undiagnosed RDs programs" have been gradually developed on the grounds of a well-structured multidisciplinary approach.

Methods

The Italian Undiagnosed Rare Diseases Network (IURDN) was established in 2016 to improve the level of diagnosis of persons with URD living in Italy. Six Italian Centres of Expertise represented the network. The National Centre for Rare Diseases at the Istituto Superiore di Sanità coordinates

SUBMITTER: Salvatore M 

PROVIDER: S-EPMC7488856 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature