PFN1 Sequence Detection for ALS Diagnosis
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Solution Overview
Problem
Current methods are inadequate for detecting and treating amyotrophic lateral sclerosis (ALS), particularly familial ALS (FALS), as nearly 50% of FALS cases have an unknown genetic etiology and existing research has not identified all genetic causes of the disease.
Innovation Solution
The method involves detecting alterations in the profilin 1 (PFN1) sequence, specifically mutations such as C71G, M114T, G118V, or E117G, to identify individuals with ALS or at risk of developing ALS, by selectively sequencing the PFN1 gene and comparing the results to a wild-type sequence, thereby identifying individuals with ALS or FALS.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If current detection methods are used for ALS, then the diagnostic process is simple, but the detection accuracy and ability to identify genetic etiology is insufficient
Solution Approach 1:
The patent extracts and sequences specifically the PFN1 gene region from the entire genome, rather than performing whole genome sequencing. This targeted extraction approach increases detection accuracy for ALS-related mutations while reducing the complexity and cost of the overall detection process.
Solution Approach 2:
The patent changes the detection parameter from general genetic screening to specific mutation detection in the PFN1 gene. By focusing on specific parameter changes (mutations at positions 71, 114, 118, or 117), the method achieves higher measurement precision for ALS diagnosis without requiring complex comprehensive genetic analysis.
2Reliability
If comprehensive genetic screening is performed to identify all ALS causes, then the completeness of genetic etiology identification improves, but the cost and complexity of the detection method increases
Solution Approach 1:
The patent extracts and sequences specifically the PFN1 gene region from the entire genome, rather than performing whole genome sequencing. This targeted extraction approach increases detection accuracy for ALS-related mutations while reducing the complexity and cost of the overall detection process.
Solution Approach 2:
The patent segments the genetic detection task by identifying and focusing on specific critical regions within the PFN1 gene where mutations are most likely to occur. This segmentation allows comprehensive screening of ALS-causing mutations within a manageable subset of the genome, improving reliability without proportionally increasing complexity.
3Measurement precision
If PFN1 sequence alteration detection is performed, then the ability to identify ALS cases improves, but the requirement for selective sequencing and comparison increases complexity
Solution Approach 1:
The patent creates a reference copy of the wild-type PFN1 sequence for comparison. By having a pre-established wild-type sequence to compare against the patient's sequence, the detection process becomes more straightforward and easier to manufacture, while maintaining high measurement precision for identifying ALS cases.
Data Source
AI summary
In one aspect, the invention is directed to a method of identifying an individual that has amyotrophic lateral sclerosis (ALS) or is at risk of developing ALS comprising detecting one or more alterations in a profilin 1 (PFN1) sequence of an individual in need thereof compared to a wild type profilin sequence. In another aspect, the invention is directed to a method of identifying an individual that has amyotrophic lateral sclerosis (ALS) or is at risk of developing ALS comprising selectively sequencing a profilin 1 (PFN1) sequence of an individual in need thereof; and detecting one or more alterations in the PFN1 sequence of the individual. If the one or more alterations are detected then the individual has ALS.