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Precision Medicine for Lysosomal Disorders
Filippo Pinto E Vairo1,2, Diana Rojas Málaga3, Francyne Kubaski4,5,6,7
1Center for Individualized Medicine, Mayo Clinic, Rochester, 55905 MN, USA.
Biomolecules
|July 30, 2020
Summary
Precision medicine (PM) offers tailored treatments for lysosomal diseases (LDs) by considering individual genetic and lifestyle factors. Advances in diagnostics and therapies are enabling customized approaches for better patient outcomes.
Area of Science:
- Genetics and Genomics
- Metabolic Disorders
- Personalized Medicine
Background:
- Lysosomal diseases (LDs) are rare genetic metabolic disorders affecting lysosomal function, with approximately 70 known conditions.
- LDs arise from genetic defects impacting lysosomal enzymes, associated proteins, activators, or modifiers, leading to substrate accumulation.
- The heterogeneity of LDs results in diverse phenotypes influenced by genetic changes and residual enzyme activity.
Purpose of the Study:
- To review emerging diagnostic technologies for optimizing lysosomal disease management.
- To explore current and developing therapeutic options for lysosomal diseases.
- To highlight clinical developments enabling personalized approaches in lysosomal disease care, aligning with precision medicine principles.
Main Methods:
- Review of scientific literature on precision medicine, lysosomal diseases, diagnostics, and therapeutics.
- Analysis of omics technologies and their application in disease management.
- Examination of clinical developments in customized patient care.
Main Results:
- Precision medicine (PM) leverages individual variability (genes, environment, lifestyle) for disease treatment and prevention.
- Early identification of LDs is crucial for predicting disease course and enabling timely, specific interventions.
- Advances in omics technology are driving PM to predict disease susceptibility and treatment responses in specific patient subgroups.
Conclusions:
- Precision medicine offers a framework for optimizing the management of lysosomal diseases.
- Emerging diagnostic tools and therapeutic advancements are key to realizing customized care for LD patients.
- Integrating omics data and clinical developments will enhance personalized treatment strategies for lysosomal diseases.
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