Biomarker Profiling for Early Neurodegenerative Disease Detection
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Solution Overview
Problem
Current methods for neurodegenerative disease diagnosis, such as cognitive assessments and medical imaging, are inadequate for early detection and tracking disease progression, often lacking insight into underlying causes and being invasive or costly.
Innovation Solution
Detection of specific biomarkers, including proteins and SNPs, in biological samples to determine the risk or state of neurodegenerative diseases like Alzheimer's, using techniques such as mass spectrometry and nucleic acid sequencing.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Adaptability or versatility
If cognitive assessment methods are used for neurodegenerative disease screening, then the screening can be performed broadly and cost-effectively, but the method cannot provide insight into underlying causes, pathologies, and risk factors
Solution Approach 1:
The patent segments the diagnostic process into two distinct stages: (1) broad cognitive screening using existing assessments, and (2) targeted biomarker analysis using mass spectrometry or nucleic acid sequencing. This segmentation allows the system to maintain the accessibility of cognitive screening while adding molecular-level diagnostic capability for those who screen positive, thereby providing insight into underlying causes without requiring all patients to undergo complex molecular testing.
Solution Approach 2:
The patent introduces biomarkers (proteins, metabolites, or nucleic acids) as intermediary molecules that bridge the gap between cognitive symptoms and underlying pathology. These biomarkers serve as mediators that can be detected in accessible biological samples and provide molecular evidence of neurodegenerative disease mechanisms, thereby conveying information about underlying causes that cognitive assessments alone cannot provide.
2Measurement precision
If medical imaging and tissue analysis are used to distinguish neurological conditions, then diagnostic accuracy can be improved, but the methods become invasive and cost intensive for routine use
Solution Approach 1:
The patent extracts diagnostic information from accessible biological samples (blood, plasma, serum, urine, or other body fluids) rather than requiring invasive tissue biopsies or complex imaging procedures. By taking out and analyzing molecular markers that can be obtained through simple blood draws or urine collection, the system achieves diagnostic accuracy comparable to invasive methods while dramatically improving ease of operation and reducing costs for routine use.
Solution Approach 2:
The patent employs mass spectrometry and nucleic acid sequencing techniques that can analyze biomarkers in accessible samples at lower cost and with less complexity than medical imaging or tissue analysis. These molecular assays serve as disposable, high-throughput diagnostic tools that provide accurate results without the expense and invasiveness of MRI, PET scans, or surgical biopsies.
3Measurement precision
If invasive and cost intensive methods are used for routine neurodegenerative disease detection, then diagnostic accuracy can be maintained, but the methods are not suitable for routine screening and monitoring
Solution Approach 1:
The patent changes the parameter of sample accessibility from invasive (tissue biopsy) to non-invasive (blood, plasma, serum, or urine). This parameter change enables the diagnostic method to be performed routinely on large numbers of patients without the constraints of invasiveness and high cost, thereby improving productivity for screening and monitoring while maintaining diagnostic accuracy through sophisticated molecular analysis of the accessible samples.
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
Provides accurate and non-invasive methods for early-stage neurodegenerative disease detection and monitoring, enabling precise diagnosis and prognosis based on biomarker presence and patterns.
Implementation Method 1
using techniques such as mass spectrometry and nucleic acid sequencing
Implementation Method 2
using techniques such as mass spectrometry and nucleic acid sequencing
Data Source
AI summary
In some aspects, the present disclosure provides a method for determining a risk or state of a neurodegenerative disease of a subject. In some embodiments, the method compriseses detecting a presence of a biomarker in a biological sample from the subject, wherein the biomarker comprises at least one of: E7EUF1, O94812, P02549, P02730, P05019, P05154, P05546, P13497, P16157, P16452, P17936, P24593, P27918, P35858, P41218, Q12797, Q13214, Q13822, Q8NI99, Q96IY4, Q99715, Q9BXN1, Q9H0B8, or a proteoform thereof. In some embodiments, the method comprises detecting a presence of a biomarker in a biological sample from the subject, wherein the biomarker comprises at least one of: P54803, P14625, P30043, P00742, A0A0D9SG88, Q5TFM2, P54803, P54803-3, P54803-4, P04196, or a proteoform thereof. In some embodiments, the method comprises determining the risk or state of the neurodegenerative disease of the subject based on the presence of the biomarker in the biological sample.