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Highlights on Genomics Applications for Lysosomal Storage Diseases

Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem genetic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the lysosome. Although the cellular pathogenesis of LSDs is complex and still not ful...

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Autores principales: La Cognata, Valentina, Guarnaccia, Maria, Polizzi, Agata, Ruggieri, Martino, Cavallaro, Sebastiano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7465195/
https://www.ncbi.nlm.nih.gov/pubmed/32824006
http://dx.doi.org/10.3390/cells9081902
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author La Cognata, Valentina
Guarnaccia, Maria
Polizzi, Agata
Ruggieri, Martino
Cavallaro, Sebastiano
author_facet La Cognata, Valentina
Guarnaccia, Maria
Polizzi, Agata
Ruggieri, Martino
Cavallaro, Sebastiano
author_sort La Cognata, Valentina
collection PubMed
description Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem genetic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the lysosome. Although the cellular pathogenesis of LSDs is complex and still not fully understood, the approval of disease-specific therapies and the rapid emergence of novel diagnostic methods led to the implementation of extensive national newborn screening (NBS) programs in several countries. In the near future, this will help the development of standardized workflows aimed to more timely diagnose these conditions. Hereby, we report an overview of LSD diagnostic process and treatment strategies, provide an update on the worldwide NBS programs, and discuss the opportunities and challenges arising from genomics applications in screening, diagnosis, and research.
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spelling pubmed-74651952020-09-04 Highlights on Genomics Applications for Lysosomal Storage Diseases La Cognata, Valentina Guarnaccia, Maria Polizzi, Agata Ruggieri, Martino Cavallaro, Sebastiano Cells Review Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem genetic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the lysosome. Although the cellular pathogenesis of LSDs is complex and still not fully understood, the approval of disease-specific therapies and the rapid emergence of novel diagnostic methods led to the implementation of extensive national newborn screening (NBS) programs in several countries. In the near future, this will help the development of standardized workflows aimed to more timely diagnose these conditions. Hereby, we report an overview of LSD diagnostic process and treatment strategies, provide an update on the worldwide NBS programs, and discuss the opportunities and challenges arising from genomics applications in screening, diagnosis, and research. MDPI 2020-08-14 /pmc/articles/PMC7465195/ /pubmed/32824006 http://dx.doi.org/10.3390/cells9081902 Text en © 2020 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 Review
La Cognata, Valentina
Guarnaccia, Maria
Polizzi, Agata
Ruggieri, Martino
Cavallaro, Sebastiano
Highlights on Genomics Applications for Lysosomal Storage Diseases
title Highlights on Genomics Applications for Lysosomal Storage Diseases
title_full Highlights on Genomics Applications for Lysosomal Storage Diseases
title_fullStr Highlights on Genomics Applications for Lysosomal Storage Diseases
title_full_unstemmed Highlights on Genomics Applications for Lysosomal Storage Diseases
title_short Highlights on Genomics Applications for Lysosomal Storage Diseases
title_sort highlights on genomics applications for lysosomal storage diseases
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7465195/
https://www.ncbi.nlm.nih.gov/pubmed/32824006
http://dx.doi.org/10.3390/cells9081902
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