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E-Learning for Rare Diseases: An Example Using Fabry Disease

Dipartimento di Biologia, Università Federico II, 80126 Napoli, Italy
Istituto di Chimica Biomolecolare, Consiglio Nazionale delle Ricerche, Comprensorio Olivetti, Edificio 70, Via Campi Flegrei 34, 80078 Pozzuoli, Italy
Dipartimento di Scienze e Tecnologie Ambientali, Biologiche e Farmaceutiche, Università della Campania “Luigi Vanvitelli”, 81100 Caserta, Italy
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2017, 18(10), 2049;
Received: 13 September 2017 / Revised: 20 September 2017 / Accepted: 21 September 2017 / Published: 24 September 2017
(This article belongs to the Special Issue Rare Diseases: Molecular Mechanisms and Therapeutic Strategies)
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. View Full-Text
Keywords: bioinformatics education; bioinformatics tools; rare disease; pharmacological chaperone; laboratory guide bioinformatics education; bioinformatics tools; rare disease; pharmacological chaperone; laboratory guide
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MDPI and ACS Style

Cimmaruta, C.; Liguori, L.; Monticelli, M.; Andreotti, G.; Citro, V. E-Learning for Rare Diseases: An Example Using Fabry Disease. Int. J. Mol. Sci. 2017, 18, 2049.

AMA Style

Cimmaruta C, Liguori L, Monticelli M, Andreotti G, Citro V. E-Learning for Rare Diseases: An Example Using Fabry Disease. International Journal of Molecular Sciences. 2017; 18(10):2049.

Chicago/Turabian Style

Cimmaruta, Chiara; Liguori, Ludovica; Monticelli, Maria; Andreotti, Giuseppina; Citro, Valentina. 2017. "E-Learning for Rare Diseases: An Example Using Fabry Disease" Int. J. Mol. Sci. 18, no. 10: 2049.

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