Neuromuscular Diseases require a careful study of the genotype-phenotype association in order to be properly diagnosed and to undertake a personalized, efficient treatment planning. To this extent, the merging of genetic, instrumental, muscular, physiotherapy, cardiovascular data is pivotal to define the profile of each single patient and to help the clinicians in defining treatment plans, monitoring the pathological course and, finally, in the patients' care. In this document, we briefly describe the in-progress development of a multimodal approach addressing this topic, focusing on the solutions composing the relevant platform as a whole, adding some brief cues on the future steps to complete the implementation of such solution and providing short hints about its possible future use.

InGene: a multimodal approach to the genotype-phenotype association in neuromuscular diseases

Raffaele Conte;Francesco Sansone;Alessandro Tonacci;
2018

Abstract

Neuromuscular Diseases require a careful study of the genotype-phenotype association in order to be properly diagnosed and to undertake a personalized, efficient treatment planning. To this extent, the merging of genetic, instrumental, muscular, physiotherapy, cardiovascular data is pivotal to define the profile of each single patient and to help the clinicians in defining treatment plans, monitoring the pathological course and, finally, in the patients' care. In this document, we briefly describe the in-progress development of a multimodal approach addressing this topic, focusing on the solutions composing the relevant platform as a whole, adding some brief cues on the future steps to complete the implementation of such solution and providing short hints about its possible future use.
2018
Istituto di Fisiologia Clinica - IFC
978-1-5386-6095-9
diagnosis
ICT
neuromuscular diseases
rehabilitation
treatment
genetics
genotype
phenotype
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Descrizione: InGene: a multimodal approach to the genotype-phenotype association in neuromuscular diseases
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Descrizione: InGene: a multimodal approach to the genotype-phenotype association in neuromuscular diseases
Tipologia: Versione Editoriale (PDF)
Dimensione 2.23 MB
Formato Adobe PDF
2.23 MB Adobe PDF   Visualizza/Apri   Richiedi una copia

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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/354665
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