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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666731/ https://www.ncbi.nlm.nih.gov/pubmed/28946642 http://dx.doi.org/10.3390/ijms18102049 |
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author | Cimmaruta, Chiara Liguori, Ludovica Monticelli, Maria Andreotti, Giuseppina Citro, Valentina |
author_facet | Cimmaruta, Chiara Liguori, Ludovica Monticelli, Maria Andreotti, Giuseppina Citro, Valentina |
author_sort | Cimmaruta, Chiara |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-5666731 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-56667312017-11-09 E-Learning for Rare Diseases: An Example Using Fabry Disease Cimmaruta, Chiara Liguori, Ludovica Monticelli, Maria Andreotti, Giuseppina Citro, Valentina Int J Mol Sci Article 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. MDPI 2017-09-24 /pmc/articles/PMC5666731/ /pubmed/28946642 http://dx.doi.org/10.3390/ijms18102049 Text en © 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Cimmaruta, Chiara Liguori, Ludovica Monticelli, Maria Andreotti, Giuseppina Citro, Valentina E-Learning for Rare Diseases: An Example Using Fabry Disease |
title | 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_short | E-Learning for Rare Diseases: An Example Using Fabry Disease |
title_sort | e-learning for rare diseases: an example using fabry disease |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666731/ https://www.ncbi.nlm.nih.gov/pubmed/28946642 http://dx.doi.org/10.3390/ijms18102049 |
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