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...

Full description

Bibliographic Details
Main Authors: Valentina La Cognata, Maria Guarnaccia, Agata Polizzi, Martino Ruggieri, Sebastiano Cavallaro
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:Cells
Subjects:
Online Access:https://www.mdpi.com/2073-4409/9/8/1902
id doaj-3da678a1a6234b4ea51178618ea8c798
record_format Article
spelling 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 AT valentinalacognata highlightsongenomicsapplicationsforlysosomalstoragediseases
AT mariaguarnaccia highlightsongenomicsapplicationsforlysosomalstoragediseases
AT agatapolizzi highlightsongenomicsapplicationsforlysosomalstoragediseases
AT martinoruggieri highlightsongenomicsapplicationsforlysosomalstoragediseases
AT sebastianocavallaro highlightsongenomicsapplicationsforlysosomalstoragediseases
_version_ 1724636943552086016