The Genetics Home Reference 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:

• Specific genetic conditions, including how mutations in certain genes cause these conditions (shown in Figure 1 below, labeled with a red "A").
• Particular genes, including what gene families they belong to and what genetic conditions they are associated with (shown in Figure 1, labeled with a red "B").
• Entire chromosomes and what genetic diseases and disorders are associated with them (shown in Figure 1, labeled with a red "C").
• Genetics terms, genetics concepts, and more general genetics information (shown in Figure 1, labeled with a red "D," "E," or "F").

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

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?

• To learn all about genetics, including mutations, genetic testing and counseling, and genomic research, from the Genetics Home Reference page click on "Handbook" (D in Figure 1) and explore the links under the "Table of Contents."
• To look up specific medical and genetics terms, from the Genetics Home Reference page, click on "Glossary" (E in Figure 1).
• To learn about genes in general, from the Genetics Home Reference page, click on "Genes" (B in Figure 1) and explore the links under "Learn about genes."
• To learn about chromosomes, from the Genetics Home Reference page click on "Chromosomes" (C in Figure 1) and explore the links under "General information about chromosomes."
• For more resources, from the Genetics Home Reference page click "Resources" (F in Figure 1).
• To learn more about biology/genetics in general, see Table 1 below.