The “Genetics Home Reference” (https://ghr.nlm.nih.gov) is a freely accessed online guide to understanding genetic conditions – and much more! The site provides information about genetically related health conditions, the identity of over 1,300 genes and their effects, chromosomes & mitochondrial (mt) DNA, and basics of human genetics, all updated regularly. While called a “home reference,” the Resources section also links to Classroom Resources, Glossaries and Medical Terms, and topics like Policy and Ethics and Evaluating Health Information on the Web.
The bright and welcoming opening page highlights major website sections with accompanying images: Health Conditions (browse A-Z), Genes (browse A-Z), Chromosomes & mtDNA, and Help Me Understand Genetics.
Click on Health Conditions to access “more than 1,100 health conditions, diseases, and syndromes” – an overwhelming number! But they are alphabetical, and users can also select a disease category. For example, to find Huntington’s Chorea, select “brain & nervous system” from the pull-down menu, then click “H” to open a list containing 10 entries/links for Huntington disease (including several alternative names and variations!). Just below (or in a sidebar, depending on your screen size), are New Pages, Updated Pages, Bulletins, and Featured (articles): Anyone who checks the site often can quickly identify what’s new!
Similarly, you can click on Genes, then the appropriate alphabet letter, to locate a human gene of interest: BRCA1/2, APOE, or HTT? Each is a live link to a short description of the gene’s normal function, followed by headings on related health conditions, chromosomal location, alternative gene names, additional resources, and sources for information on that page.
Perhaps the most broadly useful sections are Chromosomes & mtDNA and Help Me Understand Genetics. The former depicts all 23 chromosomes (plus mtDNA), so you can click on each individual chromosome to learn more about it. The latter offers a dozen useful sub-topics, as well as an opportunity to browse (or even download!) an illustrated 227-page book on basic genetics!
Finally, at the top of the Home page, you can click on: Resources. Among the sub-topics offered, teachers might check on Classroom Resources, which provides links to genetics resources from universities and medical schools across the country; or explore Glossaries and Medical Terms, for links to glossaries from a wide variety of respected scientific companies and institutions (Medline, Merck Manual, NCI, NLM, et al.).
The amount of material on this site would be staggering, if it weren’t so well arranged! One useful approach is to click on Site map near the bottom of the Home page. All the headings noted above are on that list, as is one that’s not listed elsewhere: a Gallery of Illustrations in the Public Domain. These illustrations (67, currently) were created for “Genetics Home Reference,” and can be freely copied and distributed (there are Terms and Conditions of Use, but no fees). These clear, colorful images, from a dependable scientific source, are ideal for classroom presentations by teachers or students. If you’ve been looking for “genetics-in-a-box,” perhaps this site is it!
About the Creators:
The “Genetics Home Reference” is produced by staff of the National Library of Medicine (NLM), part of the National Institutes of Health (NIH). Contents are chosen for their relevance to genetics and genetic variations; the genes included have been identified in at least two unrelated people or families, and nearly always in human studies that have been replicated or confirmed. Experts from the worldwide scientific community review the materials, and the website receives feedback from patient support and advocacy groups. The site is funded by the U.S. Government, receives no support from commercial groups, and supports no companies or products.