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

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

16.7K
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...
16.7K
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

88
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...
88
Genetic Screens02:46

Genetic Screens

5.9K
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...
5.9K

You might also read

Related Articles

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

Sort by
Same author

An Assessment of Ethnocultural Beliefs Regarding the Causes of Birth Defects and Genetic Disorders.

Journal of genetic counseling·2015
Same author

Knowledge of Breast Cancer Genetics Among Breast Cancer Patients and First-Degree Relatives of Affected Individuals.

Journal of genetic counseling·2015
Same author

Training Genetic Counselors to provide teratogen counseling.

Journal of genetic counseling·2013
Same author

Pre-screening education in multiple marker screening programs: The effect on patient anxiety and knowledge.

Journal of genetic counseling·2013
Same author

A case-based approach to the development of practice-based competencies for accreditation of and training in graduate programs in genetic counseling.

Journal of genetic counseling·2013
Same author

Practice-based competencies for accreditation of and training in graduate programs in genetic counseling.

Journal of genetic counseling·2013

Related Experiment Video

Updated: Apr 7, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

8.7K

Demographic Studies from a National Gaucher Disease Screening Program.

D M Gagnon1, E Pergament, B A Fine

  • 1, .

Journal of Genetic Counseling
|July 5, 2015
PubMed
Summary

A nationwide screening program identified 3.4% of participants with Gaucher disease. Common symptoms included fatigue, bone pain, and bruising, highlighting the need for increased disease recognition.

Area of Science:

  • Genetics and Genetic Diseases
  • Rare Diseases
  • Metabolic Disorders

Background:

  • Gaucher disease is a rare genetic disorder.
  • Early diagnosis and recognition are crucial for management.
  • A nationwide screening program was established to address these needs.

Purpose of the Study:

  • To assess the effectiveness of a self-selected screening program for Gaucher disease.
  • To identify individuals with undiagnosed Gaucher disease.
  • To analyze reported symptoms and risk factors.

Main Methods:

  • A self-report screening form collected data from 700 individuals on symptoms, age, ancestry, gender, and family history.
  • Individuals designated "high risk" were offered beta-glucocerebrosidase enzyme assay testing.

More Related Videos

Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
09:38

Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

Published on: November 14, 2017

15.9K
Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease
04:22

Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease

Published on: May 20, 2024

1.6K

Related Experiment Videos

Last Updated: Apr 7, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

8.7K
Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
09:38

Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

Published on: November 14, 2017

15.9K
Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease
04:22

Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease

Published on: May 20, 2024

1.6K
  • Statistical analysis compared symptom reporting between high-risk and low-risk groups.

    • Main Results:

    • Gaucher disease was diagnosed in 3.4% (24/700) of respondents.
    • The most frequent symptoms reported were fatigue, bone pain, and bruising.
    • Liver enlargement and unexplained bone fractures were statistically significant indicators of high risk.

    Conclusions:

    • The screening program successfully identified individuals with Gaucher disease.
    • Symptom reporting can aid in identifying individuals at high risk.
    • Further research is needed to understand symptomatology in affected versus unaffected individuals.