Diagnostic methods
Inventors
Marshall-Gradisnik, Sonya M. • Staines, Donald R. • Smith, Peter Kenneth
Assignees
Publication Number
US-11773445-B1
Publication Date
2023-10-03
Expiration Date
2036-04-29
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Abstract
In one aspect the invention relates to the use of single nucleotide polymorphisms (SNPs) in transient receptor potential (TRP) ion channel, acetylcholine receptor (AchR) and/or adrenergic receptor (ADR) genes as probes, tools or reagents for identifying, screening, diagnosing, monitoring or managing/treating subjects with, or predisposed to, medical conditions (or symptoms thereof), such as chronic fatigue syndrome (CFS), myalgic encephalomyelitis (ME), Gulf war syndrome (GWS), irritable bowel syndrome (IBS), multiple chemical sensitivity (MCS), fibromyalgia, and migraine, as well as some medical conditions caused by dysregulation in calcium, acetylcholine, TRP and ADR, and dysregulation in the gastrointestinal, cardiovascular, neurological, genitourinary and immune systems. In another aspect the invention relates to methods, kits and assays for identifying, screening, diagnosing, monitoring or managing/treating subjects with one or more of those medical conditions or symptoms.
Core Innovation
The invention relates to the use of single nucleotide polymorphisms (SNPs) in transient receptor potential (TRP) ion channel, acetylcholine receptor (AchR), and/or adrenergic receptor (ADR) genes as probes, tools, or reagents for identifying, screening, diagnosing, monitoring, or managing/treating subjects with, or predisposed to, medical conditions such as chronic fatigue syndrome (CFS), myalgic encephalomyelitis (ME), Gulf war syndrome (GWS), irritable bowel syndrome (IBS), multiple chemical sensitivity (MCS), fibromyalgia, and migraine. These medical conditions are associated with dysregulation in calcium, acetylcholine, TRP, and ADR, and dysfunction in gastrointestinal, cardiovascular, neurological, genitourinary, and immune systems.
The background art highlights the significant prevalence and complex symptomatology of CFS/ME, including debilitating fatigue, cognitive impairment, pain, and dysregulation of multiple physiological systems. There is an absence of specific diagnostic tests and clear understanding of pathophysiology for these conditions. The invention addresses the need for rapid, cost-effective, and reliable methods for identifying and managing individuals with such medical conditions, which remain elusive due to multifactorial etiology and heterogeneous clinical presentation.
The invention further includes the use of calcium metabolism testing, dysfunctional signalling through the Mitogen-Activated Protein Kinase (MAPK) pathway (including MEK1/2, ERK1/2, and p38), and identification of differentially regulated calcium-dependent kinase genes for diagnosing and monitoring these medical conditions. It encompasses methods, kits, and assays deriving from these molecular markers for clinical application.
Claims Coverage
The patent includes multiple independent claims covering methods of treatment, diagnosis, and management of medical conditions by detecting specific SNP alleles, assays for these detections, and administering therapeutic compounds based on the detection. The inventive features relate to detecting specified alleles of SNPs in TRP ion channel genes for identifying or treating CFS or ME.
Method of treating CFS or ME by detecting specific TRP ion channel SNP alleles and administering therapeutics
A method comprising obtaining a biological sample from a subject; carrying out an assay to detect one or more alleles of specified SNPs in TRP ion channel genes, including alleles such as A allele in rs12682832, C allele in rs11142508, and others; identifying the subject as having or at risk of developing CFS or ME based on detection; and administering an effective amount of a therapeutic compound to alleviate symptoms.
The claims cover methods and compositions that utilize specific SNP alleles in TRP ion channel genes as molecular markers for identification, diagnosis, and treatment of chronic fatigue syndrome or myalgic encephalomyelitis by detecting alleles and administering therapeutics accordingly.
Stated Advantages
Provides a rapid, cost-effective, and reliable means for identifying, screening, diagnosing, monitoring, and managing/treating individuals with, or at risk of developing, medical conditions such as CFS/ME.
Enables earlier diagnosis which may improve management and reduce patient suffering and healthcare costs.
Offers molecular markers based on SNPs, calcium metabolism, kinase gene regulation, and MAPK signalling for improved disease characterization.
Documented Applications
Identifying, screening, diagnosing, monitoring or managing/treating subjects with chronic fatigue syndrome (CFS) or myalgic encephalomyelitis (ME).
Identifying, screening, diagnosing, monitoring or managing/treating subjects with Gulf war syndrome (GWS), irritable bowel syndrome (IBS), multiple chemical sensitivity (MCS), fibromyalgia, and migraine.
Identifying, screening, diagnosing, monitoring or managing/treating subjects with medical conditions caused by dysregulation in calcium, acetylcholine, TRP ion channels, ADR, and dysregulation in gastrointestinal, cardiovascular, neurological, genitourinary, and immune systems.
Diagnostic and screening assays, kits, and methods for rapid molecular testing of the said SNPs and associated pathways.
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