IBD Gene Loci Genotyping for Risk Stratification and Diagnosis

Resolve Bottlenecks,
Find Innovative SolutionsGenerate Solutions

Solution Overview

Problem

Current methods are inadequate in identifying specific genes, allelic variants, and haplotypes that contribute to the genetic risk, diagnosis, and prediction of susceptibility or protection against inflammatory bowel diseases like Crohn's disease and ulcerative colitis.

Innovation Solution

Genotyping subjects for risk alleles at specific gene loci, such as SLC26A4, DLG4, GIPR, ZHX3, TNRC6B, CDK6, PRR5L, WNT2B, LRRC16A, HIST1 cluster, GTF2IRD2B, ETS1, SLC5A1, or TET2, to predict the probability of developing IBD and administering targeted therapies like anti-TNF or anti-TL1A therapy.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If genotyping is performed for multiple gene loci to improve diagnostic accuracy, then measurement precision is improved, but device complexity increases

Engineering Contradiction:

Improvediagnostic accuracyVSAvoidcomplexity

Core Design Contradiction:

Measurement precisionVSDevice complexity

Solution Approach 1:

The patent segments the diagnostic process into distinct gene loci tests (SLC26A4, DLG4, GIPR, ZHX3, TNRC6B, CDK6, PRR5L, WNT2B, LRRC16A, HIST1 cluster, GTF2IRD2B, ETS1, SLC5A1, TET2), allowing each locus to be analyzed independently while contributing to the overall diagnostic accuracy. This segmentation enables modular testing approaches that can be scaled according to clinical needs.

Inventive Principle:

Principle #1Segmentation

Solution Approach 2:

The patent develops a universal genotyping platform that can simultaneously test multiple gene loci associated with IBD susceptibility. This multi-functional system allows a single diagnostic approach to evaluate numerous genetic markers, improving comprehensive assessment without requiring separate specialized tests for each locus.

Inventive Principle:

Principle #6Universality (Multi-functionality)

2Reliability

If comprehensive genetic analysis is conducted to improve prognosis accuracy, then reliability is improved, but loss of time increases

Engineering Contradiction:

Improveprognosis accuracyVSAvoidtime

Core Design Contradiction:

ReliabilityVSLoss of time

Solution Approach 1:

The patent identifies and prioritizes specific high-impact gene loci (SLC26A4, DLG4, GIPR, ZHX3, TNRC6B, CDK6, PRR5L, WNT2B, LRRC16A, HIST1 cluster, GTF2IRD2B, ETS1, SLC5A1, TET2) that are most strongly associated with IBD susceptibility and prognosis. By focusing on these predetermined targets, the analysis can be completed more quickly while maintaining high reliability in prognostic assessment.

Inventive Principle:

Principle #10Preliminary action

Solution Approach 2:

The patent optimizes genotyping parameters and analytical thresholds for each specific gene locus to enable rapid yet accurate interpretation. By establishing predetermined cutoff values and analysis protocols for each marker, the system reduces the time required for data processing while maintaining prognostic accuracy.

Inventive Principle:

Principle #35Parameter changes

Data Source

PatentUS12545959B2Diagnosis of inflammatory bowel disease based on genes

Publication Date: 2026.02.10 CEDARS SINAI MEDICAL CENT

AI summary

The present invention describes a method of prognosing high or low probability of developing an inflammatory bowel disease (IBD) in a subject and a method of diagnosing an inflammatory bowel disease (IBD) in a subject. The invention further provides for a method of identifying genes/genetic loci associated with a disease condition, such as IBD, CD and/or UC.