E-Learning for Rare Diseases: An Example Using Fabry Disease
Background: Rare diseases represent a challenge for physicians because patients are rarely seen, and they can manifest with symptoms similar to those of common diseases. In this work, genetic confirmation of diagnosis is derived from DNA sequencing. We present a tutorial for the molecular analysis o...
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doaj-57fb556b0696418ca89641c1f032821e2020-11-25T00:55:09ZengMDPI AGInternational Journal of Molecular Sciences1422-00672017-09-011810204910.3390/ijms18102049ijms18102049E-Learning for Rare Diseases: An Example Using Fabry DiseaseChiara Cimmaruta0Ludovica Liguori1Maria Monticelli2Giuseppina Andreotti3Valentina Citro4Dipartimento di Biologia, Università Federico II, 80126 Napoli, ItalyIstituto di Chimica Biomolecolare, Consiglio Nazionale delle Ricerche, Comprensorio Olivetti, Edificio 70, Via Campi Flegrei 34, 80078 Pozzuoli, ItalyDipartimento di Biologia, Università Federico II, 80126 Napoli, ItalyIstituto di Chimica Biomolecolare, Consiglio Nazionale delle Ricerche, Comprensorio Olivetti, Edificio 70, Via Campi Flegrei 34, 80078 Pozzuoli, ItalyDipartimento di Biologia, Università Federico II, 80126 Napoli, ItalyBackground: Rare diseases represent a challenge for physicians because patients are rarely seen, and they can manifest with symptoms similar to those of common diseases. In this work, genetic confirmation of diagnosis is derived from DNA sequencing. We present a tutorial for the molecular analysis of a rare disease using Fabry disease as an example. Methods: An exonic sequence derived from a hypothetical male patient was matched against human reference data using a genome browser. The missense mutation was identified by running BlastX, and information on the affected protein was retrieved from the database UniProt. The pathogenic nature of the mutation was assessed with PolyPhen-2. Disease-specific databases were used to assess whether the missense mutation led to a severe phenotype, and whether pharmacological therapy was an option. Results: An inexpensive bioinformatics approach is presented to get the reader acquainted with the diagnosis of Fabry disease. The reader is introduced to the field of pharmacological chaperones, a therapeutic approach that can be applied only to certain Fabry genotypes. Conclusion: The principle underlying the analysis of exome sequencing can be explained in simple terms using web applications and databases which facilitate diagnosis and therapeutic choices.https://www.mdpi.com/1422-0067/18/10/2049bioinformatics educationbioinformatics toolsrare diseasepharmacological chaperonelaboratory guide |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Chiara Cimmaruta Ludovica Liguori Maria Monticelli Giuseppina Andreotti Valentina Citro |
spellingShingle |
Chiara Cimmaruta Ludovica Liguori Maria Monticelli Giuseppina Andreotti Valentina Citro E-Learning for Rare Diseases: An Example Using Fabry Disease International Journal of Molecular Sciences bioinformatics education bioinformatics tools rare disease pharmacological chaperone laboratory guide |
author_facet |
Chiara Cimmaruta Ludovica Liguori Maria Monticelli Giuseppina Andreotti Valentina Citro |
author_sort |
Chiara Cimmaruta |
title |
E-Learning for Rare Diseases: An Example Using Fabry Disease |
title_short |
E-Learning for Rare Diseases: An Example Using Fabry Disease |
title_full |
E-Learning for Rare Diseases: An Example Using Fabry Disease |
title_fullStr |
E-Learning for Rare Diseases: An Example Using Fabry Disease |
title_full_unstemmed |
E-Learning for Rare Diseases: An Example Using Fabry Disease |
title_sort |
e-learning for rare diseases: an example using fabry disease |
publisher |
MDPI AG |
series |
International Journal of Molecular Sciences |
issn |
1422-0067 |
publishDate |
2017-09-01 |
description |
Background: Rare diseases represent a challenge for physicians because patients are rarely seen, and they can manifest with symptoms similar to those of common diseases. In this work, genetic confirmation of diagnosis is derived from DNA sequencing. We present a tutorial for the molecular analysis of a rare disease using Fabry disease as an example. Methods: An exonic sequence derived from a hypothetical male patient was matched against human reference data using a genome browser. The missense mutation was identified by running BlastX, and information on the affected protein was retrieved from the database UniProt. The pathogenic nature of the mutation was assessed with PolyPhen-2. Disease-specific databases were used to assess whether the missense mutation led to a severe phenotype, and whether pharmacological therapy was an option. Results: An inexpensive bioinformatics approach is presented to get the reader acquainted with the diagnosis of Fabry disease. The reader is introduced to the field of pharmacological chaperones, a therapeutic approach that can be applied only to certain Fabry genotypes. Conclusion: The principle underlying the analysis of exome sequencing can be explained in simple terms using web applications and databases which facilitate diagnosis and therapeutic choices. |
topic |
bioinformatics education bioinformatics tools rare disease pharmacological chaperone laboratory guide |
url |
https://www.mdpi.com/1422-0067/18/10/2049 |
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