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Related Concept Videos

Genetic Variation01:25

Genetic Variation

281
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,...
281
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Human Genetics01:28

Human Genetics

566
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...
566
Combination Therapies and Personalized Medicine02:50

Combination Therapies and Personalized Medicine

4.9K
Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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...
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Related Experiment Video

Updated: Jun 29, 2025

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
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Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

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From genetic variation to precision medicine.

Panagiotis I Sergouniotis1,2,3,4, Tomas Fitzgerald2, Ewan Birney2

  • 1Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

Cambridge Prisms. Precision Medicine
|March 29, 2024
PubMed
Summary

Genetics research reveals that rare and common diseases stem from different genetic factors, yet a unified approach is crucial for understanding human health. Integrating genetic and environmental influences offers a holistic perspective.

Keywords:
data integrationgeneticsgenomicspersonalized medicine

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Area of Science:

  • Human genetics
  • Clinical genetics
  • Genomics

Background:

  • Genetics drives biological discovery and clinical innovation, particularly in precision medicine.
  • The impact of genetics is most evident in rare disorders, often linked to single-gene variations.
  • Common disorders involve complex interactions of multiple genetic, environmental, and stochastic factors.

Purpose of the Study:

  • To discuss the distinct data and concepts in rare versus common human disease genetics.
  • To explore opportunities for unifying the study of rare and common diseases.
  • To emphasize the importance of a holistic perspective integrating genetic and environmental factors.

Main Methods:

  • Comparative analysis of genetic data and concepts for rare and common diseases.
  • Literature review on Mendelian and biometric views in human genetics.
  • Discussion of integrated approaches to disease genetics.

Main Results:

  • Rare diseases are typically monogenic, while common diseases are polygenic and multifactorial.
  • A historical division exists between rare and common disease genetics, mirroring older debates.
  • A continuum of human traits and diseases exists, challenging strict categorization.

Conclusions:

  • Unifying rare and common disease genetics is essential for a comprehensive understanding of human health.
  • A holistic perspective integrating diverse genetic and environmental factors is critical.
  • Future research should focus on bridging the gap between monogenic and multifactorial disease models.