Chromosome Conformation Detection for Early Disease Diagnosis
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Solution Overview
Problem
Current disease diagnosis methods using protein, mRNA, or antibody detection are unsuitable due to high stochastic variation in gene expression levels and low half-life of these molecules, making them unreliable for early disease detection, as they only reflect subsequent stages of gene expression rather than the underlying epigenetic conformational setup.
Innovation Solution
The method involves analyzing chromosome conformation by determining the presence or absence of specific juxtaposed regions in the genome, utilizing CC markers to detect abnormal gene expression by assessing the three-dimensional structure of genes, which is more stable and indicative of earlier stages of gene expression.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If protein, mRNA or antibody detection is used for disease diagnosis, then detection of gene expression products is achieved, but high stochastic variation and low half-life make the detection unreliable
Solution Approach 1:
The patent detects chromosome conformation (loop structures) that form before gene transcription and protein expression. By detecting these epigenetic structures at an earlier stage than traditional methods, the invention avoids the reliability issues of detecting molecules with short half-lives. The conformation detection represents a preliminary action that occurs upstream in the gene expression pathway.
2Measurement precision
If protein, mRNA or antibody detection is used for disease diagnosis, then gene expression products are detected, but these molecules show high stochastic variation between individual cells
Solution Approach 1:
The invention detects chromosome conformation structures that precede gene expression. These epigenetic marks are established before transcription and protein synthesis, representing a preliminary state that is more consistent across cells than the variable expression products. By detecting the conformation rather than the expression output, the method achieves better measurement precision and diagnostic consistency.
3Loss of information
If traditional gene expression detection methods are used, then subsequent stages of gene expression are detected, but the underlying epigenetic conformational setup is not detected
Solution Approach 1:
The patent detects chromosome conformation structures that represent the epigenetic setup before gene expression occurs. This preliminary detection captures information about the potential for gene expression without waiting for transcription or translation. By detecting the conformational state upstream in the expression pathway, the invention prevents loss of epigenetic information and enables earlier diagnosis.
Data Source
AI summary
Method of detection or diagnosis of abnormal gene expression in an individual comprising determining in a sample from the individual the presence or absence of a chromosome structure in which two separate regions of the gene have been brought into close proximity, to thereby detect or diagnose whether the individual has abnormal gene expression.