Leukemia Methylation Marker Detection via Deamination
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Solution Overview
Problem
Current diagnostic procedures for leukemia are often costly, invasive, and time-consuming, with late diagnosis contributing to high cancer morbidities and mortalities due to inaccessible areas and delayed detection.
Innovation Solution
A method involving processing genomic DNA with a deaminating agent to generate a methylation profile using specific biomarkers, such as cg08261841 and cg09247255, to identify leukemia, determine subtypes, and predict prognosis, utilizing machine learning algorithms for analysis.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If traditional diagnostic procedures are used for leukemia detection, then diagnosis can be performed with established methods, but the procedures are costly, invasive, and time-consuming
Solution Approach 1:
The patent segments the complex leukemia diagnostic process into specific methylation marker detection steps. Instead of performing comprehensive traditional diagnostic procedures, the invention focuses on detecting specific methylation markers (such as cg05304729, cg00484711, cg18518074, cg05048927, cg08960448, and cg12008047) that are characteristic of leukemia, thereby reducing diagnostic time while maintaining accuracy
Solution Approach 2:
The patent performs preliminary methylation profiling on extracted genomic DNA before proceeding to full diagnostic procedures. By analyzing methylation markers in circulating tumor cells or other biological samples early in the diagnostic process, the invention enables rapid leukemia detection, allowing clinicians to proceed with targeted treatment planning without waiting for more invasive traditional diagnostics
2Reliability
If traditional diagnostic procedures are used for leukemia detection, then diagnosis can be performed, but the procedures are invasive
Solution Approach 1:
The patent extracts and analyzes methylation markers from circulating tumor cells or cell-free DNA in the bloodstream, eliminating the need for invasive bone marrow biopsies or tissue sampling. By taking out the diagnostic function to non-invasive blood-based methylation profiling, the invention maintains diagnostic accuracy while avoiding harmful invasive procedures
Solution Approach 2:
The patent uses methylation marker profiles as an intermediary to detect leukemia presence and characteristics. Instead of directly examining leukemia cells through invasive procedures, the invention detects methylation patterns in circulating biomarkers that serve as intermediaries, providing indirect but accurate information about leukemia status without direct tissue invasion
3Reliability
If traditional diagnostic procedures are used for leukemia detection, then diagnosis can be performed, but the procedures are costly
Solution Approach 1:
The patent employs cost-effective methylation marker detection methods using standard genomic DNA extraction and sequencing technologies. By focusing on specific methylation markers rather than comprehensive genomic analysis, the invention reduces diagnostic costs while maintaining high accuracy through targeted detection of leukemia-specific methylation patterns
Solution Approach 2:
The patent segments the diagnostic approach to focus only on specific methylation markers known to be associated with leukemia (such as cg05304729, cg00484711, cg18518074, cg05048927, cg08960448, and cg12008047). This segmented, targeted approach reduces the overall cost of diagnosis compared to comprehensive traditional workups while maintaining diagnostic accuracy through focused marker detection
4Reliability
If early diagnosis is achieved through methylation profiling, then cancer morbidities and mortalities can be reduced, but the complexity of the diagnostic method increases
Solution Approach 1:
The patent develops a universal methylation profiling approach that can detect multiple leukemia subtypes and provide prognostic information through a single diagnostic test. The same methylation marker panel (cg05304729, cg00484711, cg18518074, cg05048927, cg08960448, cg12008047) serves multiple functions including leukemia detection, subtype classification, and prognosis prediction, reducing the need for multiple separate diagnostic procedures despite the sophisticated nature of the analysis
Applied Scientific Principles
This section explains which scientific principles are used to turn an abstract innovation direction into a practical engineering solution.
Function Achieved in This Case
Enables early and accurate diagnosis of leukemia, differentiation of subtypes, and prediction of disease progression, facilitating timely and targeted treatment.
Implementation Method 1
processing an extracted genomic DNA with a deaminating agent to generate a genomic DNA sample comprising deaminated nucleotides
Data Source
AI summary
Disclosed herein are methods and kits for identifying a subject as having leukemia. Also provided herein are methods and kits for determining a leukemia subtype in subject. Further provided herein are methods and kits for determining the prognosis of a subject having leukemia and for determining the progression of leukemia in a subject.