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Related Concept Videos

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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Incomplete Dominance01:43

Incomplete Dominance

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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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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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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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Genetic Lingo01:11

Genetic Lingo

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Overview
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Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Related Experiment Video

Updated: Aug 20, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Genetic and Rare Diseases Information Center (GARD).

Amber Hoskins1

  • 1Manhattan Public Library, Kansas, USA.

Medical Reference Services Quarterly
|November 17, 2022
PubMed
Summary

The Genetic and Rare Diseases Information Center (GARD) is a public health resource providing information and support for rare diseases. It helps individuals find disease facts, research, and treatment options.

Area of Science:

  • Public Health
  • Genetics
  • Rare Diseases

Background:

  • Rare diseases affect a significant portion of the population.
  • There is a need for centralized, accessible information on rare disorders.
  • The Rare Diseases Act of 2002 established the need for resources like GARD.

Purpose of the Study:

  • To introduce the Genetic and Rare Diseases Information Center (GARD) as a key resource.
  • To highlight GARD's role in supporting individuals and research related to rare diseases.
  • To inform the public about the availability of disease facts, research, and treatments through GARD.

Main Methods:

  • GARD functions as a public health database.
  • It utilizes Translational Science principles to advance research.
Keywords:
Genetic diseasesonline databasepublic health resourcerare diseasesreview

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  • Information is curated to support patients, families, and researchers.

    • Main Results:

    • GARD provides a centralized platform for rare disease information.
    • It facilitates access to disease facts, ongoing research, and treatment options.
    • The database serves as a valuable guide for increasing knowledge and support.

    Conclusions:

    • GARD is an essential resource for anyone seeking information on rare diseases.
    • The center enhances research and support for rare disease communities.
    • It empowers individuals with knowledge to navigate rare disorders effectively.