MicroRNA Panel for Frontotemporal Dementia Diagnosis
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Solution Overview
Problem
Frontotemporal dementia (FTD) is challenging to diagnose due to its clinical and pathological heterogeneity, and existing biomarkers have not provided definitive diagnostic markers, leading to delays in diagnosis and overlap with other degenerative disorders like amyotrophic lateral sclerosis (ALS).
Innovation Solution
The method involves detecting specific microRNAs (miRNAs) such as hsa-miR-361-5p, hsa-miR-629-5p, and others in biological samples, using next-generation sequencing and machine learning algorithms to differentiate FTD from controls with high diagnostic accuracy.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If traditional biomarkers (TDP-43, tau, neurofilament light chain) are used for FTD diagnosis, then the diagnostic process is simplified, but the diagnostic accuracy remains insufficient and no definitive diagnostic markers are obtained
Solution Approach 1:
The patent transitions from detecting traditional protein biomarkers (TDP-43, tau, neurofilament light chain) to detecting microRNA expression levels, representing a fundamental parameter change in the type of molecular marker used. This change enables definitive FTD diagnosis by utilizing microRNAs that show distinct expression patterns in FTD patients compared to controls and other neurodegenerative conditions.
Solution Approach 2:
The patent introduces microRNAs as intermediary molecules that mediate between genetic predisposition and clinical manifestation of FTD. These microRNAs serve as reliable diagnostic markers that can be detected in biological samples, providing an indirect but accurate means of diagnosing FTD without directly measuring pathological proteins.
2Loss of time
If clinical criteria alone are used for FTD diagnosis, then the diagnostic process is straightforward, but diagnostic delays occur due to heterogeneity and overlap with other disorders like ALS
Solution Approach 1:
The patent implements preliminary diagnostic testing using microRNA detection before final FTD diagnosis is established. By measuring microRNA levels in biological samples early in the diagnostic process, clinicians can identify patients with high probability of FTD and prioritize them for further evaluation, thereby reducing diagnostic delays while maintaining high specificity.
Solution Approach 2:
The patent segments the diagnostic process into distinct stages: initial screening using microRNA detection, intermediate evaluation, and final confirmation. This segmentation allows for efficient triage of patients, reducing overall diagnostic time by identifying high-probability cases early while maintaining diagnostic specificity through progressive refinement.
3Measurement precision
If a comprehensive panel of microRNAs is detected to achieve high diagnostic accuracy, then FTD can be differentiated from other disorders, but the complexity and cost of testing increases
Solution Approach 1:
The patent extracts and focuses on a specific subset of microRNAs that have been identified as most discriminatory for FTD diagnosis. Rather than analyzing all possible microRNAs, the method selects and measures only those with highest diagnostic value, thereby reducing testing complexity and cost while maintaining high diagnostic accuracy through targeted detection of key biomarkers.
Data Source
AI summary
A method of diagnosing Frontotemporal dementia (FTD) in a subject in need thereof is provided. The method comprising detecting a level of at least one micro RNA (miR) selected from the group consisting of hsa-miR-361-5p, hsa-miR-629-5p, hsa-miR-628-3p, hsa-miR-379-5p, hsa-miR-1-3p, hsa-miR-26a-5p, hsa-miR-125a-5p, hsa-miR-125b-5p, hsa-miR-142-5p and hsa-miR-340-5p in a biological sample of the subject, wherein when said level of said at least one micro RNA (miR) is higher than that in a control sample, it is indicative of FTD.