Articolo in rivista, 2020, ENG, 10.3390/cells9081902

Highlights on Genomics Applications for Lysosomal Storage Diseases

La Cognata Valentina; Guarnaccia Maria; Polizzi Agata; Ruggieri Martino; Cavallaro Sebastiano

Consiglio Nazionale delle Ricerche; Università degli Studi di Catania; Unit of Rare Diseases of the Nervous System in childhood

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.

Cells 9 (8)

Keywords

diagnosis, genomics, lysosomal storage diseases, newborn screening

CNR authors

Cavallaro Sebastiano, Guarnaccia Maria, La Cognata Valentina

CNR institutes

IRIB – Istituto per la Ricerca e l'Innovazione Biomedica