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Highlights on Genomics Applications for Lysosomal Storage Diseases

Institute for Biomedical Research and Innovation, National Research Council, Via P. Gaifami 18, 95126 Catania, Italy
Chair of Pediatrics, Department of Educational Sciences, University of Catania, Via Casa Nutrizione, 39, 95124 Catania, Italy
Unit 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, Italy
Author to whom correspondence should be addressed.
Cells 2020, 9(8), 1902;
Received: 15 July 2020 / Revised: 10 August 2020 / Accepted: 11 August 2020 / Published: 14 August 2020
(This article belongs to the Special Issue Lysosomal Storage Disorders)
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. View Full-Text
Keywords: lysosomal storage diseases; diagnosis; genomics; newborn screening lysosomal storage diseases; diagnosis; genomics; newborn screening
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La Cognata, V.; Guarnaccia, M.; Polizzi, A.; Ruggieri, M.; Cavallaro, S. Highlights on Genomics Applications for Lysosomal Storage Diseases. Cells 2020, 9, 1902.

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