Application Note | June 30, 2025
Going Beyond the Genome in Rare Disease: The Value of a Multi-Omics Approach
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While approximately 80% of all rare diseases are genetic in origin, it is becoming increasingly clear that rare disease multi-omics is needed to fully understand rare disease pathobiology. Genetic perturbations, even from a single gene, can have ripple effects across multiple biological pathways, ultimately manifesting as metabolic disruptions, altered protein expression, or compensatory lipid signaling cascades. To improve rare disease diagnosis, disease monitoring, and therapeutic development strategies, we must look beyond genetic sequence alone.
In this context, multi-omics approaches – including proteomics, metabolomics, and lipidomics – are proving essential to layer onto genomic data to fully characterize underlying rare disease biology, develop non-invasive diagnostics, and guide optimal therapeutic intervention.
Download the Application Note to learn how rare disease multi-omics builds upon critical RNA sequencing insights and allows for better understanding of how an individual’s genotype associates with their disease phenotype.
Phenotypes can vary in patients with the same causal gene mutation, and this variability suggests that the genetics alone may not fully explain rare disease manifestation or progression. Genetic modifiers, environmental exposures, and downstream molecular effects on proteins and metabolic processes can all influence disease severity and therapeutic response. By taking a multi-omics approach that integrates protein, metabolite, and lipid profiling data with genetic readouts, we can elucidate the varied cascading effects that a single gene alteration can have across metabolic and signaling networks, and uncover critical insights into disrupted pathways and disease mechanisms that can be targeted to correct the pathological state.
The Application Note also details how Sapient’s multi-omics platform, leveraging next-generation mass spectrometry systems and our DynamiQ™ Insights Engine, can be used in both discovery and targeted workflows to robustly profile dynamic biomarkers beyond the genome to better assess target engagement, pharmacokinetics/pharmacodynamics (PK/PD), and potential off-target effects of rare disease therapies – helping to inform patient stratification, dosing strategies, and safety profiling.
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Application Note - Rare Disease - Download
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