C9orf72 Gene Mutation Diagnostic Test for Neurodegenerative Disease
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Solution Overview
Problem
Current methods for diagnosing and treating neurodegenerative diseases like frontotemporal lobar degeneration (FTLD) and motor neuron disease (MND) are inadequate, with limited sensitivity and reliability, and there is a lack of effective treatments, making it difficult to identify patients at risk or in early stages of the disease for therapeutic intervention.
Innovation Solution
A diagnostic and prognostic test is developed that focuses on detecting mutations in the C9orf72 gene, specifically using a method to identify mutations that disrupt C9orf72 expression, which involves analyzing nucleic acid samples for hexanucleotide repeats in the first intron of the C9orf72 gene, and administering agents such as C9orf72 protein, nucleic acid encoding C9orf72, or antisense agents to treat neurodegenerative diseases.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If current diagnostic methods are used for neurodegenerative diseases, then diagnosis can be performed, but sensitivity and reliability are limited
Solution Approach 1:
The patent changes the detection parameter from general neurological symptoms to specific genetic markers (C9orf72 gene mutations and hexanucleotide repeats). By targeting the molecular level rather than clinical manifestations, the diagnostic method achieves higher sensitivity and reliability in identifying neurodegenerative disease risk and early stages.
2Loss of time
If genetic testing for C9orf72 mutations is implemented, then early identification of at-risk patients is improved, but diagnostic complexity increases
Solution Approach 1:
The patent extracts and focuses on a specific genetic element (C9orf72 gene and its hexanucleotide repeats) from the complex genetic landscape of neurodegenerative diseases. By isolating this particular genetic marker, the test simplifies the diagnostic process while maintaining high accuracy for identifying at-risk patients, enabling early intervention without requiring comprehensive genomic analysis.
3Reliability
If targeted therapy based on C9orf72 mutation status is administered, then treatment effectiveness is improved, but treatment cost and complexity increase
Solution Approach 1:
The patent applies local quality by tailoring treatment to the specific genetic profile of each patient (C9orf72 mutation status). Rather than universal treatment protocols, the therapy is customized based on the presence or absence of specific genetic markers, improving effectiveness for responsive patients while avoiding unnecessary treatment complexity for those who would not benefit.
Data Source
Figure 1A~1B
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Figure 1E
AI summary
The present invention relates to methods of assessing whether a subject has or is likely to develop a neurodegenerative disease comprising determining whether the subject has a mutation in the C9orf72 gene wherein said mutation prevents or disrupts C9orf72 expression relative to expression in a reference from subjects without the mutation.