The Genome Book
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October 25th, 2009
The latest gene-speak, delivered straight to your earbuds
Not sure how to pronounce “mitochondria“? Want to listen to human genome expert (and current NIH director) Francis Collins serve as your own personal talking genetics dictionary, defining concepts such as “personalized medicine“? Federal gene geeks at the National Human Genome Research Institute have unveiled their latest online talking glossary of gene-speak.
It’s interesting to see which terms made the cut — and which didn’t.
You’ll find the essential terms of genetics, such as “base pair” or “X-linked.” Some terms that relate to broader health-related concepts, such as “pharmacogenomics,” are also included. But only a few actual health conditions made the list. You’ll find some rare disorders widely known to be genetic, such as Huntington’s Disease and hemophilia. And there’s a scattering of common health conditions where genetic factors have been fairly well identified, including diabetes and prostate cancer.
Lots of other common conditions were left out. Where, for example, is breast cancer? The glossary does include the BRCA gene variants, but doesn’t include breast cancer itself, even though other BRCA is far from being the only genetic factor involved in breast cancer. Nor does the glossary include colon cancer. The genetics of these conditions are fairly well understood, both in terms of rarer single-gene factors and more common multi-gene factors. And these diseases affect hundreds of thousands of people. If you are going to help people understand the role that genetics can play in health, these aren’t conditions you want to leave out of a new public education campaign.
If you’ve got other nominations for terms or conditions to include, please weigh in! At the bottom of the glossary index page, you’ll find a link that lets you suggest terms directly to the glossary minders. Or you can post a comment here or email us, and we’ll gather suggestions and submit them.
You’ll find many of the same terms defined in our book. We talk about genetic factors and issues in diabetes in Chapter 4, and a variety of cancers in Chapter 5.
And if you’d rather have your genetic terms defined in silence, NGHRI has a text-based glossary as well.
Categories: Chapter 1: Your Genes -- All You Need to Know, Chapter 2: Reading Your Genes, Chapter 4: Your Genes and Your Diet, Chapter 5: Your Genes and Cancer
Rahul the eye docNovember 4, 2009
No breast cancer???? And no AMD (macular degeneration) or glaucoma? We’re using more family history in ophthalmology than ever…maybe soon, more genetic testing too. BTW, didn’t find vision loss in the book, either.
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