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...
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BMC
2020-09-01
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Series: | Italian Journal of Pediatrics |
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Online Access: | http://link.springer.com/article/10.1186/s13052-020-00883-8 |
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doaj-59147f98fbb844a99a8ff42581d76f3a |
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record_format |
Article |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Marco Salvatore Agata Polizzi Maria Chiara De Stefano Giovanna Floridia Simone Baldovino Dario Roccatello Savino Sciascia Elisa Menegatti Giuseppe Remuzzi Erica Daina Paraskevas Iatropoulos Bruno Bembi Rosalia Maria Da Riol Alessandra Ferlini Marcella Neri Giuseppe Novelli Federica Sangiuolo Francesco Brancati Domenica Taruscio |
spellingShingle |
Marco Salvatore Agata Polizzi Maria Chiara De Stefano Giovanna Floridia Simone Baldovino Dario Roccatello Savino Sciascia Elisa Menegatti Giuseppe Remuzzi Erica Daina Paraskevas Iatropoulos Bruno Bembi Rosalia Maria Da Riol Alessandra Ferlini Marcella Neri Giuseppe Novelli Federica Sangiuolo Francesco Brancati Domenica Taruscio Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network Italian Journal of Pediatrics Undiagnosed Rare diseases Omics Ontology Diagnosis |
author_facet |
Marco Salvatore Agata Polizzi Maria Chiara De Stefano Giovanna Floridia Simone Baldovino Dario Roccatello Savino Sciascia Elisa Menegatti Giuseppe Remuzzi Erica Daina Paraskevas Iatropoulos Bruno Bembi Rosalia Maria Da Riol Alessandra Ferlini Marcella Neri Giuseppe Novelli Federica Sangiuolo Francesco Brancati Domenica Taruscio |
author_sort |
Marco Salvatore |
title |
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network |
title_short |
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network |
title_full |
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network |
title_fullStr |
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network |
title_full_unstemmed |
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network |
title_sort |
improving diagnosis for rare diseases: the experience of the italian undiagnosed rare diseases network |
publisher |
BMC |
series |
Italian Journal of Pediatrics |
issn |
1824-7288 |
publishDate |
2020-09-01 |
description |
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. Conclusions Our results showed a molecular diagnostic yield of 53,8%; this value is comparable to the diagnostic rates reported in other international studies. Cases collected were also pooled with those collected by UDNI International Network. This represents a unique example of global initiative aimed at sharing and validating knowledge and experience in this field. IURDN is a multidisciplinary and useful initiative linking National and International efforts aimed at making timely and appropriate diagnoses in RD patients who still do not have a confirmed diagnosis even after a long time. |
topic |
Undiagnosed Rare diseases Omics Ontology Diagnosis |
url |
http://link.springer.com/article/10.1186/s13052-020-00883-8 |
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doaj-59147f98fbb844a99a8ff42581d76f3a2020-11-25T03:55:01ZengBMCItalian Journal of Pediatrics1824-72882020-09-0146111510.1186/s13052-020-00883-8Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases networkMarco Salvatore0Agata Polizzi1Maria Chiara De Stefano2Giovanna Floridia3Simone Baldovino4Dario Roccatello5Savino Sciascia6Elisa Menegatti7Giuseppe Remuzzi8Erica Daina9Paraskevas Iatropoulos10Bruno Bembi11Rosalia Maria Da Riol12Alessandra Ferlini13Marcella Neri14Giuseppe Novelli15Federica Sangiuolo16Francesco Brancati17Domenica Taruscio18National Centre for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di SanitàDepartment of Educational Science, University of CataniaNational Transplantation Centre, Istituto Superiore di SanitàBioethics Unit, Istituto Superiore di SanitàDepartment of Clinical and Biological Sciences, University of Turin and S. Giovanni Bosco Hospital, Centre of Research of Immunopathology and Rare Diseases – Regional Coordinating Centre of the National Network for Rare DiseasesDepartment of Clinical and Biological Sciences, University of Turin and S. Giovanni Bosco Hospital, Centre of Research of Immunopathology and Rare Diseases – Regional Coordinating Centre of the National Network for Rare DiseasesDepartment of Clinical and Biological Sciences, University of Turin and S. Giovanni Bosco Hospital, Centre of Research of Immunopathology and Rare Diseases – Regional Coordinating Centre of the National Network for Rare DiseasesDepartment of Clinical and Biological Sciences, University of Turin and S. Giovanni Bosco Hospital, Centre of Research of Immunopathology and Rare Diseases – Regional Coordinating Centre of the National Network for Rare DiseasesIRCCS Mario Negri Pharmacological Research Institute, Regional Coordinating Centre of the National Network for Rare Diseases, Clinical Research Centre for Rare Diseases “Aldo e Cele Daccò”IRCCS Mario Negri Pharmacological Research Institute, Regional Coordinating Centre of the National Network for Rare Diseases, Clinical Research Centre for Rare Diseases “Aldo e Cele Daccò”IRCCS Mario Negri Pharmacological Research Institute, Regional Coordinating Centre of the National Network for Rare Diseases, Clinical Research Centre for Rare Diseases “Aldo e Cele Daccò”S.O.C. Regional Coordinating Centre of the National Network for Rare Diseases, S. Maria della Misericordia HospitalS.O.C. Regional Coordinating Centre of the National Network for Rare Diseases, S. Maria della Misericordia HospitalDepartment of Experimental and Diagnostic Medicine, University of FerraraDepartment of Experimental and Diagnostic Medicine, University of FerraraDepartment of Biomedicine and Prevention, University of Tor Vergata and University Hospital Tor Vergata, Unit of Medical Genetics Rome & IRCCS NeuromedDepartment of Biomedicine and Prevention, University of Tor Vergata and University Hospital Tor Vergata, Unit of Medical GeneticsDepartment of Life, Health and Environmental Sciences, Unit of Medical Genetics University of L’AquilaNational Centre for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di SanitàAbstract 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. Conclusions Our results showed a molecular diagnostic yield of 53,8%; this value is comparable to the diagnostic rates reported in other international studies. Cases collected were also pooled with those collected by UDNI International Network. This represents a unique example of global initiative aimed at sharing and validating knowledge and experience in this field. IURDN is a multidisciplinary and useful initiative linking National and International efforts aimed at making timely and appropriate diagnoses in RD patients who still do not have a confirmed diagnosis even after a long time.http://link.springer.com/article/10.1186/s13052-020-00883-8UndiagnosedRare diseasesOmicsOntologyDiagnosis |