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Tuesday, December 22nd, 2009

Genetic Test for Cystic Fibrosis

September 30, 2005 by Lei  
Filed under Health

Ruth at The Biotech Weblog reports that Genzyme Genetics has released a new version of a genetic test for cystic fibrosis.

The CFplus cystic fibrosis mutation analysis now test for 97 mutations (standard mutation panel tests for 23 mutations), increasing its efficiency in detecting risks for cystic fibrosis in Hispanics, African Americans, and individuals of Central and Eastern European descent.

Two classmates of mine in college had cystic fibrosis. They also happened to be twins.

In 1989, Isa recalled, friends rushed over to their house with a newspaper clipping announcing the discovery of the cystic fibrosis gene, excited that there would soon be a cure. Unfortunately, knowing more about the condition has not yet translated into a cure.

~Lucile Packard Children’s Hospital at Stanford

Isabel Stenzel Byrnes and Anabel Stenzel received double-lung transplants a few years ago and at our 10-year college reunion last year, I learned they were both doing fine. Let’s hope advances in genomics will cure others with cystic fibrosis soon after or even before they’re diagnosed.

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Comments

2 Responses to “Genetic Test for Cystic Fibrosis”
  1. Ruth Schaffer says:

    i guess, better late than never: thanks for the mention. good to know you found it useful! :)

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  1. [...] Read more about my college classmates, Isabel and Anabel Stenzel, who both had cystic fibrosis and received lung transplants a few years ago. An October podcast with Isabel Stenzel-Byrnes is available at Cystic Fibrosis Podcast. So glad to hear they’re doing well! [...]



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