Biomarker Detection for Age-Related Macular Degeneration Diagnosis
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Solution Overview
Problem
Current methods for diagnosing age-related macular degeneration are invasive, expensive, and inconvenient, making early detection challenging due to the lack of initial subjective symptoms and the need for specialized equipment, leading to reluctance in undergoing diagnostic procedures.
Innovation Solution
A biomarker-based approach that detects clonal hematopoiesis-inducing gene mutations in biological samples using genetic analysis, enabling early prediction, diagnosis, and potential treatment of age-related macular degeneration through a composition, kit, or panel that identifies specific mutations in genes such as DNMT3A, TET2, and others.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If invasive diagnostic methods such as fluorescein fundus angiography and optical coherence tomography are used, then diagnostic precision is improved, but ease of operation deteriorates and device complexity increases
Solution Approach 1:
The patent extracts the diagnostic function from complex ophthalmologic equipment to a simple blood test. By detecting clonal hematopoiesis-inducing gene mutations in circulating blood cells, the invention separates the diagnostic capability from the expensive, invasive imaging equipment, making diagnosis accessible through routine blood analysis
Solution Approach 2:
The patent introduces clonal hematopoiesis-inducing gene mutations as an intermediary biomarker that connects the underlying disease mechanism to a simple diagnostic test. Instead of directly imaging the macula, the test detects mutations in blood cells that serve as a surrogate indicator for AMD risk, enabling indirect but accurate diagnosis
2Measurement precision
If specialized ophthalmologic equipment is used for diagnosis, then measurement precision is improved, but device complexity increases
Solution Approach 1:
The diagnostic function is extracted from complex ophthalmologic imaging devices to a simple blood test platform. The invention identifies and detects specific gene mutations in circulating blood cells, eliminating the need for expensive, specialized equipment while maintaining diagnostic capability
Solution Approach 2:
The patent creates a genetic copy or surrogate marker of the disease state in accessible blood cells. By detecting clonal hematopoiesis-inducing mutations that are present in circulating blood, the test replicates the diagnostic information that would otherwise require direct imaging of the macula, using a simpler proxy system
3Reliability
If invasive diagnostic procedures are performed, then reliability of diagnosis is improved, but object-generated harmful factors increase
Solution Approach 1:
The diagnostic approach is extracted from invasive procedures requiring eye drops, contact lenses, and imaging exposure to a simple blood draw. The test detects disease-related mutations in circulating blood cells, eliminating the need for substances injected into or applied to the eye, thereby removing sources of patient discomfort and potential harm
Solution Approach 2:
The patent uses circulating blood cells as an intermediary that provides diagnostic information without requiring direct interaction with the eye. The clonal hematopoiesis-inducing mutations serve as a safe, accessible biomarker that reflects the disease state without exposing patients to the harmful factors associated with invasive ophthalmologic procedures
Data Source
AI summary
A marker composition, a kit, a gene panel, and a method which are for providing information for predicting the occurrence of, diagnosing, or treating age-related macular degeneration are disclosed. The marker composition, kit, gene panel, and method are novel tools that can provide information for predicting the occurrence of, diagnosing, or treating age-related macular degeneration, and has excellent sensitivity and can be easily analyzed without the use of a biopsy, and thus can be effectively used for the early diagnosis of age-related macular degeneration.