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Highlights on Genomics Applications for Lysosomal Storage Diseases.
- Source :
-
Cells [Cells] 2020 Aug 14; Vol. 9 (8). Date of Electronic Publication: 2020 Aug 14. - Publication Year :
- 2020
-
Abstract
- 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.
- Subjects :
- Biomarkers
Child
Child, Preschool
Enzyme Replacement Therapy methods
Genetic Therapy methods
Hematopoietic Stem Cell Transplantation methods
Humans
Infant
Infant, Newborn
Lysosomal Storage Diseases drug therapy
Neonatal Screening methods
Genome, Human
Genomics methods
Lysosomal Storage Diseases diagnosis
Lysosomal Storage Diseases genetics
Lysosomes metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 2073-4409
- Volume :
- 9
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Cells
- Publication Type :
- Academic Journal
- Accession number :
- 32824006
- Full Text :
- https://doi.org/10.3390/cells9081902