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Related Concept Videos

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...

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Related Experiment Video

Updated: May 20, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Presymptomatic and early symptomatic genetic testing.

Peter B Kang

    Continuum (Minneapolis, Minn.)
    |July 20, 2012
    PubMed
    Summary
    This summary is machine-generated.

    Genetic testing for Becker muscular dystrophy may be advisable even with early symptoms, as the Genetic Information Nondiscrimination Act (GINA) primarily protects asymptomatic individuals. Patients with "manifested disease" may not be disadvantaged by genetic confirmation.

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    FISH for Pre-implantation Genetic Diagnosis
    07:34

    FISH for Pre-implantation Genetic Diagnosis

    Published on: February 23, 2011

    Area of Science:

    • Genetics
    • Neurology
    • Medical Ethics

    Background:

    • Becker muscular dystrophy is a genetic disorder causing progressive muscle weakness.
    • Families may fear genetic discrimination, leading to delayed diagnosis.
    • The Genetic Information Nondiscrimination Act (GINA) offers protections against genetic discrimination.

    Purpose of the Study:

    • To analyze the implications of genetic discrimination for a hypothetical patient with early Becker muscular dystrophy symptoms.
    • To clarify GINA's protection scope regarding "manifested disease" versus asymptomatic individuals.
    • To provide guidance for neurologists on advising patients about genetic testing.

    Main Methods:

    • Hypothetical case study analysis.
    • Review of the Genetic Information Nondiscrimination Act (GINA) provisions.
    • Discussion of legal and ethical considerations in genetic testing.

    Main Results:

    • GINA's protections are limited for individuals with "manifested disease."
    • A patient with subtle early symptoms of Becker muscular dystrophy likely falls under the "manifested disease" category.
    • Deferring genetic testing due to discrimination fears may not be advantageous in this context.

    Conclusions:

    • Neurologists should encourage confirmatory genetic testing for patients with early symptoms of Becker muscular dystrophy.
    • Understanding GINA's limitations is crucial for informed patient counseling.
    • Genetic testing can provide diagnostic clarity without significant disadvantage for patients with manifested disease.