Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

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.
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...
Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Pedigree Analysis01:35

Pedigree Analysis

Overview
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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

In Reply.

Deutsches Arzteblatt international·2026
Same author

Interpretation of Pharmacometabolomics Results: Fingerprint of Drug Exposure or Confounder Effects? Insights from a Urinary Metabolomics Study with Voriconazole in Healthy Participants.

International journal of molecular sciences·2026
Same author

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single <i>SMN2</i> copy: an international retrospective observational study.

EClinicalMedicine·2026
Same author

Urinary Metabolomics Predict Acute Kidney Injury in Very-Low-Birth-Weight Infants with Patent Ductus Arteriosus.

Biomolecules·2026
Same author

Confidence Intervals for Comparing Two Independent Folded Normals: A Case Study in Bunion Surgery.

Statistics in medicine·2026
Same author

Emulated Effects of Glucagon-Like Peptide 1 Receptor Agonist Therapy in the General Population.

Journal of the American College of Cardiology·2026

Related Experiment Video

Updated: May 9, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Next-generation phenotyping using the parkin example: time to catch up with genetics.

Anne Grünewald1, Meike Kasten, Andreas Ziegler

  • 1Insitute of Neurogenetics, University of Lübeck, Lübeck, Germany.

JAMA Neurology
|July 10, 2013
PubMed
Summary

Phenotypic data in parkin-associated Parkinson disease (PD) research has lagged behind genetic advances. Dystonia and absence of dementia are key indicators for genetic testing and counseling in PD.

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Related Experiment Videos

Last Updated: May 9, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

  • Neuroscience
  • Genetics
  • Clinical Medicine

Background:

  • Neurodegenerative disease research has yielded limited clinical impact despite extensive study.
  • Genetic advances, particularly next-generation sequencing, have outpaced the systematic collection and analysis of phenotypic data.
  • Parkin-associated Parkinson disease (PD) serves as a model to assess the interplay between genetic and phenotypic data.

Purpose of the Study:

  • To evaluate the type, quality, and quantity of genetic and phenotypic data in parkin-associated PD over 15 years.
  • To identify clinical or genetic features that influence genetic testing and counseling for PD.
  • To propose standards for genotype-phenotype studies to advance personalized medicine.

Main Methods:

  • A systematic literature search of MEDLINE (1998-2012) for parkin-associated PD with confirmed mutations and clinical data.
  • Inclusion of 127 articles describing 1184 patients, excluding digenic cases and redundant publications.
  • Development of a quality score to assess the completeness of clinical, demographic, and genetic information.

Main Results:

  • Genetic analysis quality improved significantly, while demographic and clinical data completeness stagnated.
  • Patients with two mutant parkin alleles had a mean age at onset 9 years earlier than heterozygotes.
  • Dystonia correlated with genotype, but dementia was rare (<3%) in parkin-mutation carriers.

Conclusions:

  • Despite data gaps, dystonia and absence of dementia are crucial indicators for genetic counseling in parkin-PD.
  • Establishing minimal criteria for genotype-phenotype studies is essential for future breakthroughs in personalized medicine.
  • The findings extend beyond parkin-associated PD, advocating for improved phenotypic data collection in genetic research.