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Genetic Breakthroughs for Today

Three announcements that could have a big impact on genetic testing:

Scientists have developed a new technique to identify genes that increase the chance of women developing breast cancer. They hope it will lead to a single blood test which would reveal a woman’s risk of getting the disease.

Scientists found two genes responsible for breast cancer two years ago. But now new research led by Cancer Research UK’s Cambridge Research Institute, published in the Nature journal, has found five more.

The Swedish National Board of Health and Welfare has approved the highly-controversial procedure for three families whose children risk dying unless they receive a transplant of healthy stem cells from a sibling with a tissue match.

But for the first time authorities will allow the embryos to be screened to find a tissue match for a sick sibling, in a process called human leukocyte antigen testing (HLA).

Prize4Life — an X-PRIZE-style competition intended to stimulate innovation and produce tangible results in ALS (Amyotrophic Lateral Sclerosis) research — recently awarded its first prizes: Five researchers each received $15,000 to develop a biomarker for tracking the progression of ALS, a fatal disease.

Such a biomarker would enable scientists to test for ALS before the visible onset of symptoms, similar to markers in the blood of AIDS patients.


Hsien at Eye on DNA and Steven at The genes Sherpa will probably post their comments on these findings.

My posts on the same subjects from before:

4 Comments Post a comment
  1. 2 outta 3 ain’t bad. Personally I know famlies who do have children to do precisely this thing now being allowed. Is it a BAD thing? Well it depends on how you and your society views it.
    The X-prize like research is a great idea to develop collaboration and speed up research which has been terribly slow in this awful disease.
    Lastly, These “new” genes found have been implicated in many other diseases. On top of that, they are not nearly as penetrant(disease causing) as BRCAs. So what a “single blood test” would mean is highly suspect. The old media has a wonderful way of HYPING everything. I would post this complaint on mine, but I already have with other findings. So “I won’t beat a dead horse”
    These genes are much like the multifactorial genes in diabetes that DNADirect is offering testing for. A simple family history will give you more risk than these genes. But you never see “FAMILY HISTORY SAVES LIVES” on the news because its not as sexy.


    May 28, 2007
  2. I don’t think it would be a bad thing. But have you taken a look at my Choosing genetic defects article? That is a BAD thing.

    “I won’t beat a dead horse” — it is the sentence of the day :)

    The last thing you said is incredibly important. You should write about this “unsexity” of family histories!

    Thanks for dropping by!

    May 29, 2007
  3. Robin Hutson #

    I also tested positive for the deletion 1983del5. I would love to hear from others if possible.

    April 11, 2008
  4. melissa #


    I have tested positive for 1983del5 as well. I am currently weighing my options and trying to come to terms with what this will mean for me. I would be interested in any insight you have to offer.


    November 25, 2009

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