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Related Concept Videos

Human Genetics01:28

Human Genetics

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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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Genetic Material01:20

Genetic Material

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Within the human body, a complex and detailed system of trillions of cells works in unison to sustain life. Each cell houses a nucleus, which contains 46 chromosomes divided into 23 pairs. Chromosomes are highly coiled structures made of the genetic material DNA. These chromosomes are essential carriers of genetic information, with half inherited from the mother through her egg and the other half from the father's sperm, combining to create the unique genetic makeup of an individual.
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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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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...
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Genetic Screens02:46

Genetic Screens

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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
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Related Experiment Video

Updated: Mar 24, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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Coping with genetic burden.

A Tibben

    Acta Neuropsychiatrica
    |March 16, 2016
    PubMed
    Summary

    Predictive genetic testing is now clinically available for several neurodegenerative diseases like Huntington disease (HD), enabling early genotype determination. While gene therapy is still developing, DNA diagnostics are advancing medical care, though genetics in psychiatric disorders remains experimental.

    Area of Science:

    • Neurogenetics
    • Molecular Medicine
    • Clinical Diagnostics

    Background:

    • Recent advancements have defined numerous neurodegenerative diseases at the molecular level.
    • This molecular understanding facilitates precise genotype determination prior to symptom manifestation.
    • Pre-symptomatic genetic testing is becoming a reality for specific hereditary neurological conditions.

    Purpose of the Study:

    • To review the current status and clinical applications of predictive genetic diagnostics for hereditary diseases.
    • To highlight the availability of pre-symptomatic testing for specific neurodegenerative disorders.
    • To discuss the future implications of genetic knowledge in medicine, including psychiatric disorders.

    Main Methods:

    • Review of current clinical applications of genetic diagnostics.

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  • Identification of neurodegenerative diseases with available pre-symptomatic testing programs.
  • Discussion of the status of genetic research in psychiatric disorders.

    • Main Results:

    • Pre-symptomatic genetic testing is clinically available for Huntington disease (HD), hereditary cerebral hemorrhage with amyloid-Dutch type, inherited cerebral ataxia, myotonic dystrophy, and Alzheimer disease.
    • Predictive DNA diagnostics are a clinical reality for several hereditary diseases, despite limited widespread application of gene therapies.
    • Genetic factors for psychiatric disorders like schizophrenia and bipolar disorder are being investigated, but clinical genetic applications are not yet established.

    Conclusions:

    • Predictive genetic testing has become a valuable clinical tool for diagnosing predispositions to certain neurodegenerative diseases.
    • The clinical utility of genetics in psychiatric disorders is still in its early stages of development.
    • Increasing genetic knowledge is poised to significantly influence various medical fields and healthcare delivery.