Genetics Home Reference

Until recently, locating resources about genetic disorders written in non-technical language has been a challenge for consumers. The National Library of Medicine’s newest consumer Web site Genetics Home Reference(GHR) <ghr.nlm.nih.gov> presents information on the relationships between genetics and disease in an easy-to-understand format.

The Web site is constructed to offer the novice a basic understanding of genetics and the related disease state. For example, when selecting Help Me Understand Genetics, you will find an explanation of how genes work and how mutations cause disorders. This section also contains current information about genetic testing, gene therapy and the Human Genome Project.

To find information on a specific disorder, such as sickle cell anemia, you can either Browse by Condition or Browse by Gene. You may also search by typing the specific disorder or gene in the search box on the home page, or by clicking “Search” on the main tool bar. The information retrieved is written in a question and answer format. Each summary includes a definition of the disease or condition, information about symptoms, diagnosis and treatment options. Genetic causes with frequency and pattern of inheritance are also presented. The summary concludes with direct links to additional information such as the Genetic and Rare Disease Information Center <rarediseases.info.nih.gov> and the GeneTests Clinic Directory available at <www.genetests.org>. This directory lists laboratories that perform genetic testing in the United States and worldwide. Another GHR feature is the searchable glossary of medical and genetic terms.

GHR presently offers summaries of 72 conditions and 58 genes, but only provides information about conditions caused by mutations in a single gene. Chromosomal disorders caused by duplicated, missing or rearranged chromosomes will be added to the site in the future. Check the “What’s New” page for the latest additions. For the advanced user and health professional, links on the left side of the page will take you to related information on PubMed, Online Mendelian Inheritance in Man (OMIM), and LocusLink, a source of information for genetic researchers. Regardless of your level of understanding, Genetics Home Reference has something for everyone.

--Michelle L. Burda

Links and information are up-to-date when published but are not updated after publication.

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