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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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 result in visible changes...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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...
What is Genetic Engineering?00:49

What is Genetic Engineering?

Overview
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

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...
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Human Genetics01:28

Human Genetics

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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Updated: Jun 1, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Putting medical genetics into practice.

Malcolm A Ferguson-Smith1

  • 1Department of Veterinary Medicine, Cambridge University, Cambridge CB3 0ES, United Kingdom. maf12@cam.ac.uk

Annual Review of Genomics and Human Genetics
|June 7, 2011
PubMed
Summary
This summary is machine-generated.

This personal account details the 50-year evolution of medical genetics, highlighting its growing impact on patient care for genetic disorders. Discover key advancements in gene discovery and fetal diagnosis.

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Published on: June 21, 2018

Area of Science:

  • Medical Genetics
  • Genomic Medicine
  • Human Genetics

Background:

  • A personal reflection on the transformative impact of genetics in medicine over five decades.
  • Details the author's journey as a medical geneticist serving patients with genetic disorders.
  • Highlights the evolution of genetic services and their integration into clinical practice.

Discussion:

  • Explores the expanding role of genetic testing and counseling in patient management.
  • Discusses the increasing understanding of genetic contributions to various diseases.
  • Examines the integration of genomic data into personalized medicine approaches.

Key Insights:

  • The profound influence of chromosome studies on medical practice and research.
  • Significant advancements in areas such as sex determination and fetal diagnosis.
  • The broadening scope of genetic applications from basic research to clinical utility.

Outlook:

  • Future potential for genetic insights to further revolutionize healthcare.
  • Continued advancements in gene discovery and diagnostic technologies.
  • The ongoing integration of phylogenomics and karyotype evolution in understanding human health.