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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doaj-3da678a1a6234b4ea51178618ea8c7982020-11-25T03:16:19ZengMDPI AGCells2073-44092020-08-0191902190210.3390/cells9081902Highlights on Genomics Applications for Lysosomal Storage DiseasesValentina La Cognata0Maria Guarnaccia1Agata Polizzi2Martino Ruggieri3Sebastiano Cavallaro4Institute for Biomedical Research and Innovation, National Research Council, Via P. Gaifami 18, 95126 Catania, ItalyInstitute for Biomedical Research and Innovation, National Research Council, Via P. Gaifami 18, 95126 Catania, ItalyChair of Pediatrics, Department of Educational Sciences, University of Catania, Via Casa Nutrizione, 39, 95124 Catania, ItalyUnit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, AOU “Policlinico”, PO “G. Rodolico”, Via S. Sofia, 78, 95123 Catania, ItalyInstitute for Biomedical Research and Innovation, National Research Council, Via P. Gaifami 18, 95126 Catania, ItalyLysosomal 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.https://www.mdpi.com/2073-4409/9/8/1902lysosomal storage diseasesdiagnosisgenomicsnewborn screening |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Valentina La Cognata Maria Guarnaccia Agata Polizzi Martino Ruggieri Sebastiano Cavallaro |
spellingShingle |
Valentina La Cognata Maria Guarnaccia Agata Polizzi Martino Ruggieri Sebastiano Cavallaro Highlights on Genomics Applications for Lysosomal Storage Diseases Cells lysosomal storage diseases diagnosis genomics newborn screening |
author_facet |
Valentina La Cognata Maria Guarnaccia Agata Polizzi Martino Ruggieri Sebastiano Cavallaro |
author_sort |
Valentina La Cognata |
title |
Highlights on Genomics Applications for Lysosomal Storage Diseases |
title_short |
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_sort |
highlights on genomics applications for lysosomal storage diseases |
publisher |
MDPI AG |
series |
Cells |
issn |
2073-4409 |
publishDate |
2020-08-01 |
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. |
topic |
lysosomal storage diseases diagnosis genomics newborn screening |
url |
https://www.mdpi.com/2073-4409/9/8/1902 |
work_keys_str_mv |
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