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Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Genetic Lingo01:11

Genetic Lingo

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

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

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...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

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Related Experiment Video

Updated: Jun 20, 2026

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
10:52

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

Huntington's disease: the case for genetic modifiers.

James F Gusella1, Marcy E MacDonald

  • 1Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, 02114, USA. gusella@helix.mgh.harvard.edu.

Genome Medicine
|September 4, 2009
PubMed
Summary
This summary is machine-generated.

Huntington's disease (HD) research has advanced significantly since the HD gene discovery. Studying genetic modifiers in patients offers new therapeutic targets by revealing early biochemical changes.

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Related Experiment Videos

Last Updated: Jun 20, 2026

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
10:52

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

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

Area of Science:

  • Genetics
  • Neurodegenerative Diseases
  • Molecular Biology

Background:

  • Huntington's disease (HD) has been a model for genetic disease research for nearly 30 years.
  • The identification of the HD gene in 1993 was a landmark achievement, pioneering gene-finding technologies.
  • Past research has focused on the HD gene defect, with less emphasis on human genetic findings for interpreting model systems.

Purpose of the Study:

  • To highlight the importance of human patient genotype-phenotype analysis in understanding Huntington's disease.
  • To explore the role of genetic modifiers in HD pathogenesis.
  • To identify novel therapeutic targets and pathways for Huntington's disease.

Main Methods:

  • Analysis of genotype and phenotype in human patients with Huntington's disease.
  • Investigating genetic modifiers that influence the development of HD symptoms.
  • Utilizing knowledge of the HD gene and its defect in pathogenic mechanism studies.

Main Results:

  • Detailed analysis of human HD patients implicates genetic modifiers.
  • Genetic modifiers can alter the development and progression of Huntington's disease symptoms.
  • Understanding these modifiers can reveal biochemical changes preceding clinical diagnosis.

Conclusions:

  • Human patients remain a crucial resource for understanding Huntington's disease.
  • The search for genetic modifiers provides new insights into HD pathogenesis.
  • Identifying genetic modifiers can lead to validated therapeutic targets for Huntington's disease.