Objective:

To explore how multi-omics research can identify potential biomarkers for improved detection and monitoring of Fabry disease.

Approach:

• Review of Multi-Omics Research: The review examines transcriptomics, proteomics, and metabolomics as supplementary approaches to traditional diagnostic methods for Fabry disease.

Key Findings:

• Fabry disease is caused by GLA gene variants leading to reduced alpha-galactosidase A activity and organ damage.
• Current diagnostic tests are insufficient, particularly for heterozygous female patients.
• Proteomic studies identified candidate biomarkers in blood and urine linked to disease complications.
• Transcriptomic analysis revealed altered gene expression in Fabry podocytes related to kidney damage.
• Molecular changes associated with cardiac disease were also noted, indicating broader implications for organ involvement.

Interpretation:

Molecular profiles could enhance the understanding of organ injury in Fabry disease, complementing existing diagnostic methods.

Limitations:

• Evidence for routine multi-omics testing is not yet sufficient.
• Many studies involved small and heterogeneous patient groups.
• Proposed biomarkers require validation in larger, multicenter cohorts.
• Barriers include assay cost, accessibility, data integration, and clinical significance of molecular changes.

Conclusion:

While multi-omics approaches show promise, further validation and research are needed before routine implementation.

Sources:

• Genes & Diseases