A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases.
10.1016/j.jpha.2025.101274
- Author:
Nguyen Thi Hai YEN
1
;
Nguyen Tran Nam TIEN
2
;
Nguyen Quang THU
2
;
Franklin DUCATEZ
1
;
Wladimir MAUHIN
3
;
Olivier LIDOVE
3
;
Soumeya BEKRI
1
;
Abdellah TEBANI
1
;
Nguyen Phuoc LONG
2
Author Information
1. Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHU Rouen, Department of Metabolic Biochemistry, Referral Center for Lysosomal Diseases, Filière G2M, Rouen, 76000, France.
2. Department of Pharmacology and PharmacoGenomics Research Center, Inje University College of Medicine, Busan, 47392, Republic of Korea.
3. Internal Medicine Department, Reference Center for Lysosomal Diseases, Groupe Hospitalier Diaconesses-Croix Saint Simon, AIMS, SysMedLab, Referral Center for Lysosomal Diseases, Filière G2M, Paris, 75020, France.
- Publication Type:Review
- Keywords:
Biomarker discovery;
Diagnosis;
Inherited metabolic diseases;
Lysosomal diseases;
Multi-omics;
Personalized treatment strategies;
Precision medicine
- From:
Journal of Pharmaceutical Analysis
2025;15(10):101274-101274
- CountryChina
- Language:English
-
Abstract:
Lysosomal diseases (LDs) are a group of rare inherited disorders belonging to inborn metabolism errors. LDs are characterized by the excessive storage of undegraded substrates, most often due to the enzymatic deficiency resulting from disease-causing gene variants. LDs lead to dysregulated cellular pathways and imbalanced molecular homeostasis and can affect multiple organs and tissues. Despite being rare, LDs account for a significant incidence when considered collectively. Due to complex molecular and genetic fingerprints, considerable challenges in LD management must be overcome. Diagnosis can be significantly delayed due to the broad and nonspecific clinical manifestations and the lack of specific biomarkers. Available treatments fail to fully stop the disease progression and can alter the disease's typical phenotypes with novel manifestations. Therefore, a paradigm shift is crucial to better understand LDs and provide actionable insights. Herein, we comprehensively review the literature to demonstrate that multi-omics approaches are promising for pathophysiology elucidation, biomarker discovery, and precision therapy in LDs. We recommend adopting longitudinal study designs integrated with a multi-omics-empowered framework to facilitate mechanistic delineation, biomarker discovery, and treatment development. Relevant approaches exploring the association between LDs and common neurodegenerative disorders are also discussed, paving a potential path for improved therapeutic development and ultimately improving the patient's quality of life.
