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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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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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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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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
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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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: Mar 20, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Interpreting genetic risks.

J Pearn1

  • 1Emeritus Professor of Paediatrics and Genetics, Lady Cilento Children's Hospital, South Brisbane, Australia, and Sometime Surgeon General, Australian Defence Force, Brisbane, Australia. j.pearn@uq.edu.au.

South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde
|June 2, 2016
PubMed
Summary
This summary is machine-generated.

Professor Peter Beighton

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Area of Science:

  • Medical Genetics
  • Inherited Diseases

Background:

  • Professor Peter Beighton dedicated his career to assisting patients with inherited diseases.
  • His work provided crucial support for complex medical and life decisions.

Purpose of the Study:

  • To honor Professor Beighton's lifetime contributions to medical genetics and healthcare.
  • To highlight the impact of his research on patient empowerment and medical knowledge.

Main Methods:

  • Clinical expertise in diagnosing and managing inherited conditions.
  • Research leading to the identification of new genetic syndromes.
  • Elucidation of genetic risks for various diseases.

Main Results:

  • Discovery of novel genetic syndromes.
  • Accurate genetic risk assessment for numerous diseases.
  • Empowerment of patients and families through informed decision-making.

Conclusions:

  • Professor Beighton's leadership significantly advanced medical genetics.
  • His work provided essential scientific knowledge for patient care and healthcare.
  • A tribute to his extensive service in genetics and broader healthcare.