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06-27-2010, 02:54 PM | #1 | |||
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(for those who had DNA profiling from 23andme, this mutation would be reported)
Sergey Brin’s Search for a Parkinson’s Cure By Thomas Goetz June 22, 2010 | 12:00 pm | Wired July 2010 Why not do science differently? Gather tons of data, then start searching for correlations. ... “Traditionally, an experiment with 10 or 20 subjects was big,” says the Parkinson’s Institute’s Langston. “Then it went up to the hundreds. Now 1,000 subjects would be a lot—so with 10,000, suddenly we’ve reached a scale never seen before. This could dramatically advance our understanding.” Langston offers a case in point. Last October, the New England Journal of Medicine published the results of a massive worldwide study that explored a possible association between people with Gaucher’s disease—a genetic condition where too much fatty substances build up in the internal organs—and a risk for Parkinson’s. The study, run under the auspices of the National Institutes of Health, hewed to the highest standards and involved considerable resources and time. After years of work, it concluded that people with Parkinson’s were five times more likely to carry a Gaucher mutation. Langston decided to see whether the 23andMe Research Initiative might be able to shed some insight on the correlation, so he rang up 23andMe’s Eriksson, and asked him to run a search. In a few minutes, Eriksson was able to identify 350 people who had the mutation responsible for Gaucher’s. A few clicks more and he was able to calculate that they were five times more likely to have Parkinson’s disease... http://www.wired.com/magazine/2010/0...geys_search/5/
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In the last analysis, we see only what we are ready to see, what we have been taught to see. We eliminate and ignore everything that is not a part of our prejudices. ~ Jean-Martin Charcot The future is already here — it's just not very evenly distributed. William Gibson |
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06-27-2010, 05:21 PM | #2 | ||
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In Remembrance
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Does anyone know how many are in the 23andMe database now?
http://www.gauchercare.com/en/patient/about.aspx a missing enzyme causes fatty tissue to build up affecting the whole body but some organs in particular are worse. it's genetic; more common among Jews of Ashkenazi (Eastern European) descent, the incidence is higher: up to 1 in 450 people. The higher frequency of Gaucher disease among this population has led to the misconception that Gaucher disease is a "Jewish genetic disease,” but in fact, individuals of any ethnic or racial background may be affected. Adults Gaucher disease typically affects the body in many ways as a result of Gaucher cells accumulating in various organs, especially the liver, spleen, and the bone marrow. The disease’s bone-related symptoms can be particularly painful and debilitating, impairing a patient’s mobility.
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paula "Time is not neutral for those who have pd or for those who will get it." |
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