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Integrated Multi-omics Approaches for Studying Rare Genetic Diseases
Refat M Nimer1, Lina A Dahabiyeh2, Reem AlMalki3
1Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid, Jordan.
Methods in Molecular Biology (Clifton, N.J.)
|June 14, 2025
Summary
Integrating multi-omics data, including genomics, transcriptomics, proteomics, and metabolomics, offers a comprehensive view of genetic diseases. This approach reveals molecular pathways and biomarkers for better disease understanding.
Area of Science:
- Genomics and Genetics
- Systems Biology
- Biochemistry
Background:
- Genomic and genetic information alone offer incomplete insights into disease etiology and pathogenesis.
- Integrating gene expression data with downstream product activity and metabolite regulation is crucial for a full understanding of disease processes.
Purpose of the Study:
- To describe multi-omics protocols for studying genetic diseases.
- To highlight the importance of metabolomics and proteomics in multi-omics analyses.
Main Methods:
- Simultaneous analysis of genome, transcriptome, proteome, and metabolome.
- Application of multi-omics approaches to identify molecular pathways and biomarkers.
Main Results:
- Multi-omics approaches have identified crucial molecular pathways in genetic diseases.
- Novel biomarkers associated with genetic diseases have been discovered through integrated analyses.
- A comprehensive understanding of genotype-phenotype interactions in disease development has been achieved.
Conclusions:
- Multi-omics integration provides a holistic view of disease mechanisms, surpassing single-omic approaches.
- Metabolomics and proteomics are key components for elucidating complex genetic disease pathways.
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