Genetic Disease Identification via Immune Stratification
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Solution Overview
Problem
Current methods are inadequate in identifying genes, genetic variants, and biological pathways associated with complex diseases, such as inflammatory bowel disease, which often result from interactions of multiple genes with varying patterns of mutations, hindering therapeutic target identification and diagnostics.
Innovation Solution
The approach involves performing genetic association studies, using immune responses to stratify diseases, and clustering statistically significant genetic markers to identify genes and pathways involved in disease pathogenesis, employing whole genome association, haplotype-defined gene structures, and high-throughput screening techniques.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If current genetic association study methods are used, then disease gene identification is performed, but the ability to identify genes and pathways in complex diseases with multiple gene interactions is inadequate
Solution Approach 1:
The patent segments complex diseases into distinct subtypes based on immune response profiles (e.g., different antibody responses to bacterial antigens). This segmentation allows standard genetic association methods to be applied effectively to each subtype, overcoming the limitation of analyzing heterogeneous complex diseases as a single group and improving gene identification accuracy for each specific disease category.
Solution Approach 2:
The patent introduces immune response profiles as an intermediary layer between disease diagnosis and genetic analysis. By using immune responses (antibody levels against specific antigens) as a mediating classification system, the method bridges the gap between complex multifactorial diseases and traditional genetic association studies, enabling more precise identification of disease-associated genes through this intermediate phenotypic classification.
2Measurement precision
If immune response stratification is applied, then disease subdivisions are identified, but the complexity of the study design increases
Solution Approach 1:
The patent performs preliminary stratification of disease patients based on immune response profiles before conducting genetic association analysis. By pre-classifying patients into distinct immune response subgroups (e.g., high vs. low antibody responders to specific bacterial antigens), the method simplifies the subsequent genetic analysis for each subgroup, reducing the overall complexity compared to attempting to analyze all patients uniformly or to perform multiple sequential analyses without prior stratification.
3Area of stationary object
If whole genome association studies are performed, then comprehensive gene coverage is achieved, but the computational and analytical complexity increases
Solution Approach 1:
The patent segments the genome-wide analysis by first dividing the population into distinct immune response subgroups. This segmentation reduces the effective sample size and genetic variability within each analysis group, thereby reducing computational complexity and multiple testing burden compared to performing a single whole-genome association study on the entire heterogeneous population, while still maintaining comprehensive genome coverage within each stratified group.
Data Source
AI summary
In one embodiment, the invention provides methods of identifying genes and genetic variants that, either alone or in combination, are important to the pathogenesis of a disease. In another embodiment, the disease is stratified by use of an immune response to disease-associated antigens. In another embodiment, the invention provides methods of identifying pathways that, either alone or in combination, are important to the pathogenesis of a disease. In another embodiment, the invention provides a method of diagnosing or predicting susceptibility to a disease in an individual by determining the presence or absence of genes and genetic variants that, either alone or in combination, are important to the pathogenesis of the disease.