Disease Screening
Disease Screening - Related Videos
13:32
High Content Screening in Neurodegenerative Diseases
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Cited by 8 •
2012
We describe a methodology combining automated cell culturing with high-content imaging to visualize and quantify multiple cellular processes and structures, in a high-throughput manner. Such methods can aid in the further functional annotation of genomes as well as identify disease gene networks and potential drug targets.
08:50
Genetic Screens
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2023
Genetic screens are critical tools for defining gene function and understanding gene interactions. Screens typically involve mutating genes and then assessing the affected organisms for phenotypes of interest. The process can be “forward”, where mutations are generated randomly to identify unknown genes responsible for the phenotypes, or it can be “reverse”, where specific genes are targeted for mutation to observe what phenotypes are produced.Here, JoVE reviews various types of genetic...
09:44
High-throughput Screening for Chemical Modulators of Post-transcriptionally Regulated Genes
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2015
Here we describe a cell-based reporter gene assay as a valuable tool to screen chemical libraries for compounds modulating post-transcriptional control mechanisms exerted through 3’ UTR.
08:10
Multi-enzyme Screening Using a High-throughput Genetic Enzyme Screening System
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Cited by 7 •
2016
This work presents a method of high-throughput screening using a universal genetic enzyme screening system that can be theoretically applied to over 200 enzymes. Here, the single screening system identifies three different enzymes (lipase, cellulase, and alkaline phosphatase) by simply changing the substrate used (p-nitrophenyl acetate, p-nitrophenyl-β-D-cellobioside, and phenyl phosphate).
11:57
Saccharomyces cerevisiae Models of Alzheimer's Disease to Screen Genes, Mutations, and Chemicals Affecting Amyloid Beta Production by γ-Secretase
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2025
Here, we describe a yeast system reconstituting human γ-secretase. This system allows for the identification and study of mutations affecting activity and for screening of γ-secretase inhibitors (GSIs). Utilizing the loss of function properties of familial Alzheimer's disease mutants, it is possible to screen for γ-secretase modulators (GSMs).
FAQs
A positive screening result does not by itself establish disease. It indicates that a biomarker, measurement, image, or genetic finding warrants diagnostic evaluation. That follow-up can confirm the condition or exclude it, while also clarifying whether the initial signal reflected disease, increased risk, or an inconclusive result.
False-positive results can lead people without confirmed disease to undergo unnecessary follow-up, whereas false-negative results can fail to identify a condition or risk. These opposing errors shape the balance between screening benefits and potential harms. Evaluating both is essential when judging whether a test is appropriate for a population.
The tested population determines how useful screening findings will be. Programs should consider who may have a disease or an increased risk of developing it, then apply an accurate test and diagnostic follow-up. Careful selection helps focus testing where early indicators can provide meaningful information while limiting avoidable false results and follow-up.
These approaches examine different forms of early evidence. Assays may detect biomarkers, imaging can reveal biological or structural indicators, physical measurements provide measurable changes, and genetic tests identify inherited or molecular signals. The appropriate choice depends on which indicator is relevant to the disease or risk being evaluated.
A screening program begins by testing people without recognized symptoms using an assay, image, physical measurement, or genetic test. Results then identify those who may need further assessment. Diagnostic evaluation follows an abnormal or concerning finding to confirm or exclude disease, distinguish increased risk from disease, and guide subsequent monitoring or treatment decisions.
Screening can be valuable when identifying a condition before symptoms appear may allow more effective monitoring or treatment. Its biological and medical relevance comes from detecting biomarkers or other early indicators before recognized illness develops. The overall benefit depends on accurate testing, suitable population selection, and follow-up that resolves uncertain results.