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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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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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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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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

263
Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
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Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

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Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
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Related Experiment Video

Updated: May 5, 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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[Basic aspects of medical genetics].

Sandra Pajarola1, Ruxandra Bachmann, Dunja Niedrist

  • 1Institut für Medizinische Genetik, Universität Zürich, Schlieren.

Praxis
|November 28, 2013
PubMed
Summary

Genetic disorders arise from single gene (monogenic) or multiple gene (chromosomal) defects. Accurate diagnosis requires understanding the specific genetic defect for appropriate testing and expert genetic counseling.

Keywords:
ChromosomenMutationenSequenzierunganalyses génétiqueschromosomesgenetic testinggenetische Analysengénétique médicalemedical geneticsmedizinische Genetikmutationssequencingséquençage

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Area of Science:

  • Human Genetics
  • Genomic Medicine
  • Medical Diagnostics

Context:

  • The human genome comprises 23 chromosome pairs and 20,000-25,000 genes.
  • Genetic disorders stem from diverse molecular mechanisms.
  • Accurate diagnosis necessitates identifying the specific underlying genetic defect.

Purpose:

  • To outline the diagnostic approach for genetic disorders.
  • To highlight the role of Medical Genetics specialists.
  • To emphasize the importance of tailored diagnostic testing.

Summary:

  • Monogenic diseases result from single-gene defects, requiring targeted testing based on clinical suspicion.
  • Chromosomal disorders involve multiple genes, often presenting with less specific symptoms.
  • Medical Genetics specialists are crucial for differential diagnosis, test selection, result interpretation, and genetic counseling.

Impact:

  • Facilitates precise diagnosis of genetic conditions.
  • Enables appropriate genetic counseling for presymptomatic and prenatal cases.
  • Ensures adherence to Swiss legal and ethical guidelines in genetic practice.