FIG4 Gene Variant Assays for ALS Risk Detection
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Solution Overview
Problem
Current diagnostic and therapeutic options for Amyotrophic Lateral Sclerosis (ALS) are limited, with no cure available and existing treatments only prolonging survival without reversing motor neuron damage, highlighting the need for improved diagnostics and treatments, particularly in understanding the molecular basis of the disease.
Innovation Solution
Development of assays for detecting variant FIG4 alleles and polymorphisms associated with ALS, including methods for nucleic acid and polypeptide detection, to assess the risk of ALS and potentially treat the disease by identifying specific mutations such as c.547C>T, c.1207C>T, and others, which cause loss of function in the FIG4 gene.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If current diagnostic methods are used for ALS, then general disease detection is possible, but early detection of specific genetic risk factors and molecular basis characterization is insufficient
Solution Approach 1:
The patent segments the diagnostic process by developing specific assays for different FIG4 gene variants and polymorphisms. Instead of using a single general diagnostic method, the invention creates targeted detection tools for specific genetic mutations (e.g., c.547C>T, c.1207C>T) associated with ALS, thereby improving detection precision for early risk identification while maintaining manageable complexity through focused assay design.
2Duration of action of moving object
If general treatments like Riluzole are used, then survival is prolonged by several months, but motor neuron damage is not reversed and liver damage monitoring is required
Solution Approach 1:
The patent applies preliminary action by enabling early detection of FIG4 gene variants and polymorphisms through specialized assays before significant motor neuron damage occurs. By identifying genetic risk factors early in the disease process, the invention allows for earlier intervention and potential prevention of damage progression, rather than waiting until damage is already established and only survival prolongation is possible.
Data Source
AI summary
The present invention relates to neurological disease, in particular to mutations in the FIG4 gene. The present invention also provides assays for the detection of variant FIG4 alleles, and assays for detecting FIG4 polymorphisms and mutations associated with disease states such as ALS.