Could Omics Improve Fabry Disease Diagnosis?

Researchers examine how molecular profiling could help identify organ injury that conventional testing may miss

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Multi-omics research is identifying potential biomarkers to improve detection and monitoring of Fabry disease.
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Fabry disease is caused by GLA gene variants that reduce alpha-galactosidase A activity, leading to organ damage.
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Current diagnostic methods combine clinical history, enzyme activity, and genetic testing, but no single test is comprehensive.
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Proteomic and metabolomic studies have identified candidate biomarkers and molecular changes associated with Fabry disease.
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Evidence for routine multi-omics testing is insufficient, with challenges including small study sizes and validation needs.

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