Epigenetic Chromosome Interaction Detection for ALS Diagnosis

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Solution Overview

Problem

Current methods for diagnosing amyotrophic lateral sclerosis (ALS) are inadequate, as they lack precision in predicting disease progression and treatment response, leading to ineffective treatment strategies.

Innovation Solution

A method for diagnosing ALS predisposition by detecting specific epigenetic chromosome interactions using the EpiSwitch platform, which generates ligated nucleic acids from cross-linked chromosome regions, allowing for the identification of predisposition through PCR analysis.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If current diagnostic methods are used for ALS, then treatment strategies can be implemented, but the precision in predicting disease progression and treatment response is insufficient

Engineering Contradiction:
Improveprediction precisionVSAvoidtreatment effectiveness
Core Design Contradiction:
Measurement precisionVSReliability

Solution Approach 1:

The patent segments the diagnostic approach by detecting multiple specific chromosome interactions (at least 10 distinct interactions) rather than relying on a single marker. This segmentation of the diagnostic process into multiple interaction detection points enables more precise prediction of disease progression and treatment response, directly addressing the insufficient precision of current methods

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The patent employs excessive action by detecting a comprehensive panel of chromosome interactions beyond what traditional single-marker methods provide. By analyzing at least 10 specific epigenetic chromosome interactions simultaneously, the method over-detects relative to conventional approaches, thereby achieving superior prediction precision and treatment response accuracy

Inventive Principle:
Principle #16Partial or excessive action

2Measurement precision

If epigenetic chromosome interactions are detected to categorize patients, then early detection and treatment effectiveness improve, but the complexity of the diagnostic method increases

Engineering Contradiction:
Improvedetection precisionVSAvoiddiagnostic method complexity
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The patent applies universality by developing a multi-functional diagnostic platform that can detect at least 10 different epigenetic chromosome interactions using a unified approach. The method uses universal PCR-based detection protocols that can simultaneously assess multiple chromosome interactions, thereby maintaining detection precision while reducing the operational complexity compared to performing separate analyses for each interaction

Inventive Principle:
Principle #6Universality (Multi-functionality)

Solution Approach 2:

The patent implements preliminary action by pre-selecting and defining the specific panel of at least 10 chromosome interactions to be detected. This preliminary configuration of the diagnostic panel allows for standardized, routine testing that reduces complexity during actual patient diagnosis, as the target interactions are predetermined and the methodology is established in advance

Inventive Principle:
Principle #10Preliminary action

Applied Scientific Principles

This section explains which scientific principles are used to turn an abstract innovation direction into a practical engineering solution.

Function Achieved in This Case

This approach enables early detection of ALS, allowing for more effective treatment by categorizing patients based on epigenetic profiles, potentially improving prognosis and care planning.

Implementation Method 1

which generates ligated nucleic acids from cross-linked chromosome regions

Methodology Applied
Scientific EffectCross-linking:

Implementation Method 2

allowing for the identification of predisposition through PCR analysis

Methodology Applied
Scientific EffectPCR amplification:

Data Source

PatentEP3314015B1Detection of chromosome interactions
Publication Date: 2024.07.31 OXFORD BIODYNAMICS PLC
  • EP3314015B1 patent drawingFigure 1A~1B
  • EP3314015B1 patent drawingFigure 1C~1D
  • EP3314015B1 patent drawingFigure 2A~2B

AI summary

A method of determining the epigenetic chromosome interactions which are relevant to a companion diagnostic.