Circulating Biomarker Panel for Brugada Syndrome Diagnosis
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Solution Overview
Problem
Current diagnostic methods for Brugada Syndrome, such as the ajmaline challenge test, are invasive, costly, and carry risks, while genetic testing is not suitable for making a diagnosis, highlighting the need for a more efficient, non-invasive, and sensitive laboratory test for diagnosing the syndrome, especially in asymptomatic patients.
Innovation Solution
A set of 14-59 circulating biomarkers, including specific mRNA, metabolites, and lipids, identified through multi-omics characterization and bioinformatics analysis, which can diagnose Brugada Syndrome with high accuracy in peripheral blood samples, regardless of genotype or expression of known genetic biomarkers.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If ajmaline challenge test is used to diagnose Brugada Syndrome, then diagnostic accuracy is improved, but patient safety deteriorates due to risk of provoking VT/VF
Solution Approach 1:
The patent uses circulating biomarkers (microRNAs, proteins, metabolites) as intermediary substances to diagnose Brugada Syndrome indirectly, avoiding direct pharmacological challenge that could provoke dangerous arrhythmias. These biomarkers serve as safe mediators that correlate with disease presence without triggering harmful physiological responses.
Solution Approach 2:
The patent replaces the mechanical/pharmacological intervention system (ajmaline injection and ECG monitoring) with a biochemical detection system that measures circulating biomarkers in blood samples. This substitution eliminates the need for drug administration while maintaining diagnostic capability through molecular analysis.
2Measurement precision
If ajmaline challenge test is used to diagnose Brugada Syndrome, then diagnostic accuracy is improved, but procedural complexity and cost increase
Solution Approach 1:
The patent employs standard, widely available blood sampling and biomarker detection technologies that are already established in clinical laboratories. These methods use routine reagents and equipment rather than specialized challenge test infrastructure, making the procedure simpler and more accessible.
Solution Approach 2:
The patent extracts the essential diagnostic information from the complex pharmacological challenge process by identifying specific circulating biomarkers that can be measured independently. This extraction simplifies the diagnostic workflow to a straightforward blood test without requiring pharmacological intervention or specialized monitoring equipment.
3Loss of information
If genetic testing is performed to identify Brugada Syndrome, then etiological understanding is improved, but diagnostic suitability deteriorates due to incomplete penetrance and heterogeneity
Solution Approach 1:
The patent shifts the diagnostic parameter from genetic DNA sequence to circulating biomarkers in the blood. This parameter change allows detection of disease presence regardless of specific genetic mutations, capturing the functional phenotype rather than the genetic cause, thereby improving diagnostic reliability across diverse genotypes.
Solution Approach 2:
The patent develops a universal biomarker panel that can diagnose Brugada Syndrome across all genetic subtypes and phenotypic expressions. Unlike genetic testing which requires identifying specific mutations, this biomarker approach provides a single diagnostic tool that works universally for all patients regardless of their underlying genetic etiology.
Data Source
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AI summary
The present invention relates to a specific set of circulating biomarkers and related methods and kits for the diagnosis of Brugada Syndrome in a human being.