Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Genetic Screens02:46

Genetic Screens

5.4K
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...
5.4K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Genome Sequencing Enhances Precision and Clinical Utility of Pharmacogenetic Data Compared to Arrays.

Journal of clinical pharmacology·2026
Same author

Reply to: residual risk after familial RYR1 testing: interpreting malignant hyperthermia susceptibility in the context of regional testing strategies.

European journal of human genetics : EJHG·2026
Same author

Clinical Characterization of Skin Findings on the Hands in Proteus Syndrome.

Pediatric dermatology·2026
Same author

Development and validation of an LC-MS/MS assay for the quantification of Miransertib in human plasma and clinical application.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences·2026
Same author

A proposed North American approach for genetic testing of individuals at risk for malignant hyperthermia.

Canadian journal of anaesthesia = Journal canadien d'anesthesie·2026
Same author

Genetics of growth rate in induced pluripotent stem cells.

Stem cell reports·2026

Related Experiment Video

Updated: Dec 9, 2025

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.5K

Genomic Screening for Malignant Hyperthermia Susceptibility.

Leslie G Biesecker, Robert T Dirksen, Thierry Girard

    Anesthesiology
    |September 8, 2020
    PubMed
    Summary

    Genomic testing could screen for malignant hyperthermia susceptibility, potentially ending deaths. This review explores the scientific and clinical steps needed to achieve this goal.

    More Related Videos

    A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy
    06:58

    A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy

    Published on: July 12, 2021

    5.4K
    Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
    07:24

    Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

    Published on: February 10, 2023

    1.8K

    Related Experiment Videos

    Last Updated: Dec 9, 2025

    Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
    09:33

    Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

    Published on: August 25, 2023

    1.5K
    A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy
    06:58

    A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy

    Published on: July 12, 2021

    5.4K
    Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
    07:24

    Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

    Published on: February 10, 2023

    1.8K

    Area of Science:

    • Anesthesiology
    • Genetics
    • Medical Diagnostics

    Background:

    • Malignant hyperthermia (MH) is a rare, severe pharmacogenetic disorder triggered by specific anesthetic agents.
    • Current diagnostic methods for MH susceptibility are invasive and not widely accessible.
    • Preventing MH-related deaths requires improved screening and diagnostic strategies.

    Purpose of the Study:

    • To evaluate the feasibility and utility of genomic testing for malignant hyperthermia susceptibility.
    • To outline a pathway for implementing genomic screening to prevent MH-related mortality.
    • To stimulate discussion on ending deaths from malignant hyperthermia.

    Main Methods:

    • Review of recent scientific and clinical advances in understanding and diagnosing MH.
    • Analysis of the potential role of genomic testing in MH susceptibility screening.
    • Proposal of a strategic framework for clinical implementation.

    Main Results:

    • Genomic testing offers a promising avenue for non-invasive screening of MH susceptibility.
    • Advances in genetic sequencing and bioinformatics support the development of reliable genomic assays.
    • A multi-faceted approach integrating genomic data into clinical practice is essential.

    Conclusions:

    • Genomic screening for malignant hyperthermia susceptibility is a practical and timely goal.
    • Implementing genomic testing can significantly reduce and potentially eliminate MH-related deaths.
    • Further research and clinical validation are needed to establish genomic testing as a standard of care.