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Highlights on Genomics Applications for Lysosomal Storage Diseases
Valentina La Cognata1, Maria Guarnaccia1, Agata Polizzi2
1Institute for Biomedical Research and Innovation, National Research Council, Via P. Gaifami 18, 95126 Catania, Italy.
Cells
|August 23, 2020
Summary
Lysosomal storage diseases (LSDs) are rare genetic disorders diagnosed through newborn screening (NBS). Advances in genomics are improving LSD diagnosis, treatment, and research.
Area of Science:
- Genetics
- Biochemistry
- Pediatrics
Background:
- Lysosomal storage diseases (LSDs) are rare, inherited multisystem disorders.
- Characterized by the accumulation of undegraded substances within lysosomes.
- Primarily affect infants and children, with complex cellular pathology.
Purpose of the Study:
- To provide an overview of LSD diagnostic processes and therapeutic strategies.
- To update on global newborn screening (NBS) programs for LSDs.
- To discuss the role of genomics in LSD screening, diagnosis, and research.
Main Methods:
- Literature review of diagnostic methods and treatment strategies for LSDs.
- Analysis of current worldwide newborn screening programs.
- Discussion of genomic applications in LSD research and clinical practice.
Main Results:
- Emerging diagnostic technologies and therapies are enabling wider NBS implementation.
- Standardized workflows are being developed for timely LSD diagnosis.
- Genomics offers significant opportunities for advancing LSD screening and research.
Conclusions:
- Newborn screening for LSDs is expanding globally.
- Genomic technologies present both opportunities and challenges for LSD management.
- Improved diagnostics and treatments are crucial for improving outcomes in children with LSDs.
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