COPD Diagnosis Using Molecular Biomarker Gene Expression

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Solution Overview

Problem

Current methods for diagnosing chronic obstructive pulmonary disease (COPD) are inadequate for early detection and identifying susceptibility to progressive lung damage, leading to delayed diagnosis and untreated irreversible damage in patients.

Innovation Solution

The use of specific molecular biomarkers such as DMBT1, KIAA1199, TMSB15A, and others to determine gene expression levels in samples, allowing for the assessment of COPD susceptibility and progression through in vitro methods using primers, nucleic acid probes, microarrays, and antibodies.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If current diagnostic methods are used, then diagnosis can be performed, but early detection and susceptibility assessment are inadequate leading to delayed diagnosis

Engineering Contradiction:
Improvediagnosis accuracyVSAvoiddiagnosis delay
Core Design Contradiction:
Measurement precisionVSLoss of time

Solution Approach 1:

The patent applies preliminary action by measuring gene expression levels of specific biomarkers (DMBT1, KIAA1199, TMSB15A, and other COPD-associated genes) before clinical symptoms manifest. This allows early detection of COPD susceptibility and progression risk in asymptomatic or early-stage patients, enabling intervention before irreversible lung damage occurs. The method performs diagnostic assessment in advance of traditional clinical diagnosis.

Inventive Principle:
Principle #10Preliminary action

2Measurement precision

If molecular biomarker analysis is implemented, then early diagnosis and risk assessment are enabled, but diagnostic complexity increases

Engineering Contradiction:
Improvesusceptibility assessment accuracyVSAvoiddiagnostic method complexity
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The patent applies segmentation by dividing the diagnostic process into distinct molecular components - measuring expression levels of specific gene groups (DMBT1, KIAA1199, TMSB15A, and other COPD-associated genes) separately. Each gene or gene cluster serves as an independent diagnostic marker that can be analyzed individually or in combination, allowing complex susceptibility assessment to be broken down into manageable measurement units.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The patent applies universality by developing a multi-functional diagnostic system using molecular biomarkers that simultaneously performs multiple functions: detecting COPD susceptibility, assessing disease progression risk, differentiating between stable and progressive COPD, and predicting response to treatment. This single molecular analysis approach replaces multiple separate diagnostic assessments.

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

3Reliability

If traditional diagnostic approaches are used, then treatment can be initiated, but irreversible lung damage has already occurred

Engineering Contradiction:
Improvetreatment effectivenessVSAvoidintervention delay
Core Design Contradiction:
ReliabilityVSLoss of time

Solution Approach 1:

The patent applies preliminary action by identifying COPD susceptibility and progression risk through molecular biomarker analysis before irreversible lung damage occurs. By detecting altered gene expression patterns (DMBT1, KIAA1199, TMSB15A, and other markers) in early stages or in asymptomatic individuals, the method enables treatment initiation before permanent structural damage develops, thereby improving treatment effectiveness and preventing disease progression.

Inventive Principle:
Principle #10Preliminary action

Data Source

PatentUS11124835B2Methods of diagnosing chronic obstructive pulmonary disease (COPD) using novel molecular biomarkers
Publication Date: 2021.09.21 TRANSGENION INT INST FOR REGENERATIVE TRANSLATIONAL MEDICINE GMBH
  • US11124835B2 patent drawing
  • US11124835B2 patent drawing
  • US11124835B2 patent drawing

AI summary

The present invention relates to in vitro methods for the diagnosis of chronic obstructive pulmonary disease (COPD), wherein the expression of the marker gene DMBT1 is determined. In particular, the invention relates to an in vitro diagnostic method of assessing the susceptibility of a subject to develop progressive COPD involving the appearance of irreversible lung damage, wherein the expression of the marker gene DMBT1 and optionally one or more further marker genes selected from KIAA1199, TMSB15A, DPP6, SLC51B, NUDT11, ELF5, AZGP1, PRRX1, AQP3, SFN, GPR110, GDF15, RASGRF2, RND1, PLA1A, FGG, CEACAM5, HYAL2, AHRR, CXCL3, CYP1A1, CYP1B1, CYP1A2, CST6, NTRK2, COMP, ITGA10, CTHRC1, TAL1, FIBIN, BEX5, BEX1, ESM1 and GHRL is determined. The invention also relates to an in vitro method of diagnosing stable COPD or assessing the susceptibility of a subject to develop stable COPD, wherein the expression of DMBT1 and optionally one or more further marker genes selected from KIAA1199, TMSB15A, DPP6, SLC51B, NUDT11, ELF5, AZGP1, PRRX1, AQP3, SFN, GPR110, GDF15, RASGRF2, RND1, PLA1A, FGG, CEACAM5, HYAL2, AHRR, CXCL3, CYP1A1, CYP1B1, CYP1A2, CST6, NTRK2, COMP, ITGA10, CTHRC1, TAL1, FIBIN, BEX5, BEX1, ESM1 and GHRL is determined. Furthermore, the invention relates to the use of primers for transcripts of the aforementioned marker genes, the use of nucleic acid probes to transcripts of these marker genes, the use of microarrays comprising nucleic acid probes to transcripts of these marker genes, and the use of antibodies against the proteins expressed from these marker genes in corresponding in vitro methods. In vitro methods of monitoring the progression of COPD are also provided, in which the expression of marker genes according to the invention is determined.