Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 

About Genetics Home Reference

Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.

For additional information, see the Genetics Home Reference Fact SheetThis link leads to a site outside Genetics Home Reference..

Quick Reference

About Genetics Home Reference

Who sponsors Genetics Home Reference?

Genetics Home Reference is a service of the U.S. National Library of Medicine, part of the National Institutes of Health, an agency of the Department of Health and Human Services.

There is no advertising on this site, nor does Genetics Home Reference endorse any company or product.

What information is in Genetics Home Reference?

Condition Summaries
Each summary describes the major features of the condition, provides information about the condition's genetic basis, and explains its pattern of inheritance. The summaries also link to support organizations and additional information about the condition.
Gene Summaries
Each summary provides the official name and symbol of a gene, its chromosomal location, an explanation of its normal function, and the health implications of variations in the gene. Each gene summary links to more detailed information about the gene.
Gene Family Summaries
Each summary provides information about a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. Each summary also includes links to additional information, including a full list of the genes in that family.
Chromosome Summaries
Chromosome summaries provide an estimate of the amount of DNA and number of genes for each chromosome and for mitochondrial DNA. Chromosomal conditions link directly to related chromosomes, with an explanation of how changes in the number or structure of chromosomes can lead to certain disorders.
Handbook
Help Me Understand Genetics Handbook is an illustrated, basic explanation of how genes work and how mutations cause disorders. It also includes current information about genetic testing, gene therapy, and the Human Genome Project.
Glossary
A glossary of genetic and medical terms is available from every web page. In addition, each summary provides a list of glossary terms used on the page, with a direct link to their definitions.
Resources
The Resources section provides links to other online resources that are chosen based on Selection Criteria for Web Links. Resources are grouped into categories based on the intended audience: patients and families, educators, health professionals, and genetics researchers. Links to items of general genetics interest are also provided.

How are topics selected for Genetics Home Reference?

Genetics Home Reference selects topics from a variety of sources, including GeneReviewsThis link leads to a site outside Genetics Home Reference., Online Mendelian Inheritance in Man (OMIM)This link leads to a site outside Genetics Home Reference., MedlinePlusThis link leads to a site outside Genetics Home Reference.®, Genetic AllianceThis link leads to a site outside Genetics Home Reference., and the Genetic and Rare Diseases Information Center (GARD)This link leads to a site outside Genetics Home Reference.. Conditions are typically chosen based on whether they have a known or suspected genetic component. Genetics Home Reference staff is continually developing new content for the web site; please check back regularly for new information.

Who develops and reviews the content on Genetics Home Reference?

Genetics Home Reference is developed by a Staff comprising genetics and public health professionals and computer and information scientists. Expert Reviewers perform a comprehensive review of each condition, gene, gene family, and chromosome summary before it is posted to Genetics Home Reference, and with each substantial revision thereafter. Genetics Home Reference also engages patient support and advocacy groups to provide feedback on website content. The date of the last comprehensive review is noted in each summary.

Genetics Home Reference extracts some gene information automatically from online scientific databases. This information is clearly marked, and it is not further reviewed before being posted to the Genetics Home Reference website.

How are web links selected for Genetics Home Reference?

Genetics Home Reference provides access to information from the National Library of Medicine, the National Institutes of Health, and other U.S. Government agencies.

To complement U.S. Government sources, Genetics Home Reference links to selected nonfederal web sites, consistent with Selection Criteria for Web Links. The links do not constitute an endorsement. We are not responsible for the content of those web sites.

An icon (This link leads to a site outside Genetics Home Reference.) signals that a link leaves Genetics Home Reference.

Before seeking medical or health information on the web, consumers may review the MedlinePlus® topic on Evaluating Health InformationThis link leads to a site outside Genetics Home Reference..

How can I learn more about Genetics Home Reference?

Several Learning Activities are available to help you explore the web site and find out about human genetics.

Frequently Asked Questions

Why doesn't Genetics Home Reference always include the most recent information from genetics research?

Genetics Home Reference is a starting point for consumers interested in learning about human genetics and inherited disorders. We strive to make sure that this information is current and accurate.

Scientists around the world are continually learning more about human genetics through research studies, including genome-wide association studies. Some of these studies produce conflicting or unexpected results that only future research will resolve. Genetics Home Reference usually excludes unproven or controversial information until it is clarified by additional studies.

What criteria are used by Genetics Home Reference to include or exclude certain information about a particular disorder?

As new data emerge from genetics research, Genetics Home Reference staff relies on some basic guidelines to determine what information to include on the web site:

  • To include a specific condition, it must have a known or suspected genetic component. In most cases, this means the condition is associated with defined genetic variations, such as gene mutations or chromosomal changes.
  • To include a particular gene with a condition, genetic variations must have been identified in two or more unrelated individuals or families.
  • In most cases, data must be available from human studies whose results have been confirmed by other research (replicated). Research findings are usually excluded if they come from studies done only with animals or with populations of human cells that have been maintained artificially for long periods of time (cell lines).

How do I find the most current research information about a condition, gene, gene family, or chromosome?

Every condition, gene, gene family, and chromosome summary in Genetics Home Reference links to PubMed®, a service of the National Library of Medicine. Each of these links leads to a list of relevant articles from the biomedical literature. In addition, a link to references, located at the end of each summary, lists the scientific articles used to develop the content for that summary.

For more technical information, each gene and chromosome summary provides links to resources that are designed for genetics professionals and researchers. These resources include in-depth information about gene and chromosome structure, function, and variation. Additional links to cutting-edge research information can be found in the Resources for Genetics Researchers.

How does Genetics Home Reference decide which names to use for its conditions?

The title of each condition summary reflects recent research and guidance from experts in the field of medical genetics.

Genetics Home Reference lists many topics under more than one name, especially when the same condition may be known by different scientific, informal, and historical names. Each condition summary includes a list of additional names that people use to refer to the condition.

For more information about naming conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

How does Genetics Home Reference decide which gene symbols and gene names to use?

Genetics Home Reference uses standardized gene terminology from NCBI GeneThis link leads to a site outside Genetics Home Reference. at the National Center for Biotechnology InformationThis link leads to a site outside Genetics Home Reference..

This terminology typically includes the official gene name and gene symbol as designated by the HUGO Gene Nomenclature CommitteeThis link leads to a site outside Genetics Home Reference. (HGNC). Each Genetics Home Reference gene summary also links to that gene's specific HGNC entry under the heading "Research Resources."

Genetics Home Reference lists many genes under more than one name or symbol, especially when the same gene may be known by different scientific, informal, and historical names. Each gene summary includes a list of additional names and symbols that people use to refer to the gene.

For more information about how gene names and symbols are assigned, see How are genetic conditions and genes named? in the Handbook.

Why are gene symbols italicized in Genetics Home Reference?

The HUGO Gene Nomenclature Committee (HGNC) recommends that symbols for human genes be italicized whenever they appear in print. Protein names are not italicized. For more information, please see the HGNC's Guidelines for Gene NomenclatureThis link leads to a site outside Genetics Home Reference..

What is automatically extracted gene information and where does it come from?

Some of the gene information on Genetics Home Reference is obtained directly from other reputable databases, including NCBI GeneThis link leads to a site outside Genetics Home Reference. and UniProtThis link leads to a site outside Genetics Home Reference.. This information is not reviewed by Genetics Home Reference. Pages that include automated gene information are clearly marked and include links to their original sources.

In some cases, information automatically extracted from NCBI Gene and UniProt may be slightly different from information provided elsewhere on Genetics Home Reference. These differences occur because Genetics Home Reference, NCBI Gene, and UniProt use different criteria for inclusion and exclusion of data, have different review processes, and are updated at different times. Because the field of human genetics changes quickly, these differences may lead to minor inconsistencies in the information presented. However, Genetics Home Reference includes the automatically extracted information to provide as much information as possible to the site's users.

What do the reviewed and published dates mean?

A “reviewed” date appears at the top and bottom of each summary of a genetic condition, gene, chromosome, and gene family on Genetics Home Reference. The reviewed date, which is specific to each page, indicates when the scientific content of the page was last reviewed.

The Genetics Home Reference website is published periodically with new summaries, updated links, and other improvements. The “published” date, which appears at the bottom of each page, indicates when the entire website was last refreshed.

How can I obtain a printed copy of the Handbook, Help Me Understand Genetics?

Genetics Home Reference provides a printable version of the entire Handbook, complete with illustrations. Choose Printable PDFP D F file on the Handbook page to access this version. You must have a PDF reader installed on your computer to read and print this type of file. The Handbook is not available in a pre-printed or booklet form at this time.

May I use illustrations or text from Genetics Home Reference?

You may copy and use illustrations and other content from Genetics Home Reference in accordance with the Terms and Conditions of Use. When crediting Genetics Home Reference as the source, you may follow the National Library of Medicine format on Citing the Genetics Home Reference.

Sometimes Genetics Home Reference illustrations are requested at higher resolution for use in other publications. These illustrations are created for the web, and unfortunately, high resolution versions are not available.

Can I subscribe to be notified of new information on Genetics Home Reference?

The What's New page always lists the latest topics on Genetics Home Reference. You can also Subscribe for Updates from Genetics Home Reference to receive announcements by email or RSS.

What if I still have questions?

If you have questions or comments regarding Genetics Home Reference, please contact NLM Customer ServiceThis link leads to a site outside Genetics Home Reference..

 
 
Published: July 28, 2014