Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network
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(2020) 46:130
RESEARCH
Open Access
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network Marco Salvatore1* , Agata Polizzi2, Maria Chiara De Stefano3, Giovanna Floridia4, Simone Baldovino5, Dario Roccatello5, Savino Sciascia5, Elisa Menegatti5, Giuseppe Remuzzi6, Erica Daina6, Paraskevas Iatropoulos6, Bruno Bembi7, Rosalia Maria Da Riol7, Alessandra Ferlini8, Marcella Neri8, Giuseppe Novelli9, Federica Sangiuolo10, Francesco Brancati11 and Domenica Taruscio1
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 the whole project. The software PhenoTips was used to collect the information of the clinical cases. Results: One hundred and ten cases were analysed between March 2016 and June 2019. The age of onset of the diseases ranged from prenatal age to 51 years. Conditions were predominantly sporadic; almost all patients had multiple organs involvements. A total of 13/71 family cases were characterized by WES; in some families more than one individual was affected, so leading to 20/71 individuals investigated. Disease causing variants were identified in two cases and were associated to previously undescribed phenotypes. In 5 cases, new candidate genes were identified, although confirmatory tests are pending. In three families, investigations were not completed due to the scarce compliance of members and molecular investigations were temporary suspended. Finally, three cases (one familial) remain still unsolved. Twelve undiagnosed clinical cases were then selected to be shared at International level through PhenomeCentral in accordance to the UDNI statement. (Continued on next page)
* Correspondence: [email protected] 1 National Centre for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Rome, Italy Full list of author information is available at the end of the article © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in
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