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Genetics Home Reference Tutorial

The Genetics Home Reference (http://ghr.nlm.nih.gov/) is an online tool and resource for the general public to identify and learn about genetic mutations responsible for genetic diseases. With a basic understanding of genetics (see Table 1 below for resources) and with this guide, anyone can learn to use the Genetics Home Reference. Below are instructions, tips, and advice on how to get started using this resource.

What can I use Genetics Home Reference for?

The Genetics Home Reference has information on hundreds of genetic conditions and genes, as well as other genetics-related resources. By using this resource, you can learn about:

We will walk through each of these different tools separately below. Go to the Genetics Home Reference, http://ghr.nlm.nih.gov/. (Note: This link will open a new window so you may more easily follow the steps.)

The Genetics Home Reference website has tools available for investigating different genetic diseases, the genes involved in these diseases, and more.
Figure 1. The Genetics Home Reference website has many genetics tools and resources, which are labeled here with different letters for reference (in red).

How can I find more information about a specific genetic condition?

In the "Genetic Conditions" section (A in Figure 1), you can find information on hundreds of genetic conditions, by category or alphabetically, or you can check out the most often viewed conditions. For the purpose of simplifying the directions, we will use cystic fibrosis as the example in this walkthrough.

  1. From the Genetics Home Reference website, click on "Genetic Conditions."
  2. On this page you will find genetic conditions listed by category or by most often viewed. Click on "Lungs and breathing" (listed on the left, under "Find a disease by category").
  3. Scroll down until you see "cystic fibrosis" and click on it.
  4. On this page, you can find the following:
    1. A general overview of the disease.
    2. Information about how common the disease is.
    3. What gene(s) are related to the disease and links to the specific gene page (described below).
    4. Information about how the disease is inherited.
    5. Links to additional information related to cystic fibrosis.

Where can I search for specific genes?

In the "Genes" section (B in Figure 1), you can look up specific genes and find a variety of information on them, including their effects on health and genetics and how they are grouped together. For the purpose of simplifying the directions, we will use the gene that causes cystic fibrosis (CFTR) as the example in this walkthrough.

  1. From the Genetics Home Reference website, click on "Genes."
  2. On this page you can find specific genes by their gene symbol or grouping, or you can learn more about what genes are.
    1. Under "Find a specific gene" click on the letter "C".
  3. Scroll down until you see "CFTR" and click on it.
  4. On this page, you can find the following:
    1. The official name of the gene.
    2. The normal function of the gene.
    3. The family of genes the gene belongs to.
      1. For example, the CFTR gene belongs to a family of genes called ABC (discussed below).
    4. How the gene has been changed to cause the genetic disease.
    5. The chromosome location of the gene.
    6. Links to additional information relating to the gene, as well as other genetics resources.
  5. Go back to the "Genes" page (from step 2) and under "Learn about genes by group or classification," click on "By gene family."
    1. This page lists families of genes.
    2. For cystic fibrosis, click on "ABC."
  6. On this page, you can find the following:
    1. General information on the gene family.
    2. What genes belong to the family.
    3. Conditions and diseases related to the gene family.
    4. Links to information on general genetics terms and concepts.

I want to know what genetic conditions are related to a certain chromosome. How can I find this out?

In the "Chromosomes" section (C in Figure 1), you can read about chromosomes and look up chromosomes, by their number, to find out what health conditions are associated with specific chromosomes. For the purpose of simplifying the directions, we will use chromosome 7 as the example in this walkthrough.

  1. From the Genetics Home Reference website, click on "Chromosomes."
  2. On this page you can read about specific chromosomes, or you can learn more about what chromosomes are.
    1. Under "Information about specific chromosomes" click on the number "7."
  3. Read about chromosome 7 and how changes in this chromosome can cause certain health conditions.
    1. What causes Williams syndrome?
    2. Only a few disease-related genes and disorders associated with chromosome 7 are listed on this page. There are two ways to find more:
      1. Click on the link "Genes on chromosome 7" for a list of these genes.
      2. Click on the link "disorders associated with genes on chromosome 7" for a list of these disorders.
    3. At the bottom of this page, you can find many other resources on chromosomes.

I don't understand some of the terms or concepts used in the Genetics Home Reference. Where can I look up more information?

Resource Area Resource Name Website What You Will Learn
General Genetics Genetics Home Reference
(National Institutes of Health)
http://ghr.nlm.nih.gov/ Terms and concepts related to genetics and what genes cause different genetic conditions.
Human Genetics and Medical Research: A Revolution in Progress
(National Institutes of Health)
http://history.nih.gov/exhibits/
genetics/index.htm
General genetics concepts, including what genes are, information on the Humane Genome Project, and how gene therapy works. Includes a cartoon guide for kids.
Human Genome Project Information
(Oak Ridge National Laboratory)
http://www.ornl.gov/sci/
techresources/
Human_Genome/
project/info.shtml
How the Human Genome Project was done and what it can tell us about our genetics.
Learn.Genetics, Genetic Science Learning Center
(The University of Utah)
http://learn.genetics.utah.edu/ Terms and concepts related to genetics, including how DNA turns into protein and heredity. Includes an animated "tour" and a game to build a DNA molecule.
DNA from the Beginning
(Cold Spring Harbor Laboratory)
http://www.dnaftb.org/ Terms and concepts related to general genetics and information on historic genetics experiments.
Gene Screen app
(Cold Spring Harbor Laboratory: Dolan DNA Learning Center, Harlem DNA Lab & DNA Learning Center West)
http://www.dnalc.org/
resources/
gene_screen_app.html
Interactive explanations of general genetics concepts, including inheritance. Interactive iPhone/iPod Touch app.
Genetics & Diseases Genes and Disease
(National Center for Biotechnology Information)
http://www.ncbi.nlm.nih.gov/
books/NBK22183/
Genes and the genetic disorders and diseases that they cause.
Your Genes, Your Health
(Cold Spring Harbor Laboratory: Dolan DNA Learning Center)
http://www.ygyh.org/ Information on genetic diseases, including their incidence, testing, symptoms, causes, treatments, and more.
Gene Testing Understanding Cancer: Gene Testing
(National Cancer Institute at the National Institutes of Health)
http://www.cancer.gov/
cancertopics/
understandingcancer/
genetesting/
What genes are and how to have gene testing done.

Table 1. There are many resources available online to help provide a basic understanding of genetics concepts and terms.