Gene Disease Triads
Gene Disease Triads - Related Videos
01:29
Dark Triad and Person Perception
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2025
Person perception is influenced by both external behaviors and the observer’s internal characteristics, including personality traits. Individuals with dark personality traits, comprising psychopathy, Machiavellianism, and narcissism — collectively known as the dark triad – exhibit manipulative and exploitative tendencies in social contexts. These traits affect how they perceive others and how they are perceived.The Role of Dark Personality Traits in Person PerceptionBlack et al. (2014) explored...
08:09
Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease
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Cited by 10 •
2014
Lipoxygenase (LOX) isozymes can generate products that may increase or decrease neuroinflammation and neurodegeneration. A gene-environment interaction study could identify LOX isozyme-specific effects. Using the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) model of nigrostriatal damage in two LOX isozyme-deficient transgenic lines allows for comparison of the contribution of LOX isozymes on dopaminergic integrity and inflammation.
08:42
Application of a C. elegans Dopamine Neuron Degeneration Assay for the Validation of Potential Parkinson's Disease Genes
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Cited by 48 •
2008
This video demonstrates how to use C. elegans to assess dopaminergic neuron neurodegeneration as a model for Parkinson's disease. Furthermore, genetic screens are used to identify factors that either enhance degeneration or are neuroprotective.
08:36
Chitosan/Interfering RNA Nanoparticle Mediated Gene Silencing in Disease Vector Mosquito Larvae
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Cited by 94 •
2015
Here we describe a procedure for inhibiting gene function in disease vector mosquitoes through the use of chitosan/interfering RNA nanoparticles that are ingested by larvae.
10:47
An Overview of Genetics and Disease
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2023
Many human diseases are associated with mutations or variations in genetic sequences. Some of these genetic variants are heritable, passed down from generation to generation, while others arise sporadically during an organism’s life and cause diseases such as cancer. Researchers are trying to identify and characterize these genetic alterations in the hopes of improving diagnosis and therapeutic options for patients.In this video, we will examine the history of genetic disease research, and...
FAQs
Its effect may arise from an altered protein sequence, changed gene expression, or abnormal gene dosage. Each mechanism can disrupt a cellular pathway in a different way, which helps explain why particular signs and symptoms appear. Connecting the molecular consequence with the observed phenotype gives clinical teams a stronger basis for interpreting whether a variant contributes to illness.
They provide independent evidence about whether a proposed genetic relationship is plausible. An inheritance pattern can show whether disease transmission within families agrees with the suspected relationship, while population frequency helps assess whether a variant is compatible with a disorder. Considering both reduces reliance on a single observation when interpreting genetic findings.
Functional evidence examines whether the suspected variant or gene change has consequences consistent with the proposed disease mechanism. When those findings agree with the patient phenotype, inheritance pattern, and population frequency, confidence increases. This combined assessment is more informative than treating any one evidence source as decisive, particularly when clinical findings alone are insufficient.
The analysis begins by relating a candidate gene and variant to the patient’s clinical phenotype. Investigators then compare the proposed relationship with inheritance information, population frequency, and available functional evidence. Concordant findings support a more confident interpretation, whereas conflicting evidence signals the need for caution and may guide further genetic evaluation.
Triad-based analysis helps connect a patient’s symptoms with a possible molecular cause while organizing the evidence behind that interpretation. In diagnosis, it can support assessment of rare disorders. In genetic counseling, the relationship between variant, disease, and phenotype provides a structured basis for discussing genetic findings and their clinical relevance.
The framework can help select patients for targeted testing when their phenotype and other evidence suggest a relevant genetic relationship. Across research, it organizes evidence that supports gene discovery. In precision medicine, the same structure can help identify patients whose molecular and clinical features are appropriate for consideration of targeted treatment.