In Vitro Multiple Sclerosis Diagnosis Using HERV Transcript Sequencing
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Solution Overview
Problem
Current diagnostic methods for multiple sclerosis lack definitive biomarkers and are reliant on subjective evaluations and invasive procedures, while existing HERV-W expression studies suffer from cross-reactivity, non-detection of mutated sequences, and artifact formation, leading to inconclusive results.
Innovation Solution
A method using next-generation sequencing (NGS) and bioinformatics analysis to quantify HERV transcript expression levels in blood samples, identifying specific HERV sequences differentially expressed in multiple sclerosis patients, overcoming cross-reactivity and ambiguity by precise molecular analysis.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If conventional diagnostic methods (magnetic resonance imaging, cerebrospinal fluid sampling) are used to diagnose multiple sclerosis, then diagnostic accuracy can be improved, but patient invasiveness and cost increase
Solution Approach 1:
The patent replaces invasive mechanical procedures (magnetic resonance imaging, cerebrospinal fluid sampling) with a molecular biology-based diagnostic method that analyzes HERV transcript expression levels in accessible biological samples, thereby eliminating physical invasiveness while maintaining diagnostic reliability
Solution Approach 2:
The patent introduces HERV transcript expression levels as an intermediary biomarker that indirectly indicates the presence of multiple sclerosis, allowing diagnosis through non-invasive measurement of molecular markers rather than direct observation of disease pathology
2Adaptability or versatility
If HERV-W expression studies use generic primers for amplification, then detection coverage is improved, but cross-reactivity and artifact formation increase
Solution Approach 1:
The patent applies local quality by designing primers and probes that are specific to individual HERV-W sequences rather than generic primers, allowing each diagnostic target to be detected with high specificity while maintaining comprehensive coverage through a panel of sequence-specific assays
Solution Approach 2:
The patent segments the HERV-W group into individual sequence targets, each detected by specific primers and probes, thereby avoiding cross-reactivity between similar sequences while maintaining comprehensive detection coverage through the combined analysis of multiple segmented targets
3Reliability
If a panel of multiple HERV sequences is analyzed, then diagnostic reliability is improved, but test complexity increases
Solution Approach 1:
The patent merges multiple individual HERV sequence analyses into a single integrated diagnostic panel where the combined expression levels of multiple HERV transcripts are evaluated together to provide a comprehensive diagnostic assessment, thereby improving reliability while managing complexity through unified interpretation
Data Source
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AI summary
Multiple sclerosis (MS) is a demyelinating neurodegenerative disease that affects approximately 2.3 million people worldwide. To date, there is no single test available that can definitely and indisputably confirm the diagnosis of MS, just as there are no diagnostic or predictive bio-markers for the disease. The present invention relates to a new method for the in vitro diagnosis of multiple sclerosis. In particular, the invention has as its object the analysis of the expression levels of specific transcripts deriving from Human Endogenous Retroviruses (HERV).