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View Diary: The Dark Cloud over Medical Research (11 comments)

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  •  Boy are you wrong about that. (0+ / 0-)

    Sequencing the genome was incredibly important. The first times are the hardest and the most expensive but that must come first. You can't develop cheap quick ways to sequence until you do the hard first work. Now we can sequence a person genome for a thousand dollars more of less.

    It is leading the way for personalized medicine if nothing else.

    I'm asking you to believe. Not in my ability to bring about real change in Washington ... *I'm asking you to believe in yours.* Barack Obama

    by samddobermann on Sat Nov 23, 2013 at 04:52:59 AM PST

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    •  Human Genome Project Did Enourmous Damage (0+ / 0-)

      If those resources had been made available to individual researchers, we probably would have made much more progress.

      The Human Genome Project found a surprisingly low number of genes.  In fact, they only discovered about a thousand genes that had not already been discovered by individual labs, not the thirty to eighty thousand new genes that were predicted.

      HapMap version one was a bust, so they had to do HapMap two.  This also was such a bust that when Collins wrote the Science paper wrapping up the project his only two coauthors were people that worked for him.

      The idea that there was some statistical voodoo in the  HapMap that would make trio and pedigree analysis  obsolete turned out to be total bullshit. For that you should read "An utter refutation of the fundamental theorem of the HapMap" by Terwilliger and Hiekkalinna.
      Terwilliger and Hiekkalinna refute the statistical assumptions behind the hHapMap, which most scientists did not believe anyway.

      Behind the HapMap was an anti-intellectual bias against the people doing traditional genetics.  They were told "You just don't understand this stuff, because you aren't a code monkey. Any statistician will tell you this is child play."  Of course, these were the same people who only a couple years earlier had been claiming they had statistical methods that could spot a 10% difference in using only two microarrays, which was also bullshit.  But really, it was all about siphoning off of research money into factory style facilities with instrumentation from one manufacturer.

      In Collins HapMap Two wrap-up paper, he states in the intro that he will refute Terwilliger and Hiekkalinna, and then he does not mention them in the rest of the paper.

      Anyway, even before the HapMap launched, the cytogeneticists were saying that individual's had wide variation in the size of their chromosomes, so that was another widely known hole in the theory big enough to drive a truck through, but that made no impression on people driven by their contempt for empirical data.

      Lastly, let's not forget that the drug companies were all over the idea of an automated discovery process that relied on a few junior programmers and no scientific subject matter experts.  By 2005, the transformational benefits of genomics had failed to arrive and the drug companies  were floundering.  With empty drug development pipelines, they announced they were going to focus on cosmetics and sport drinks.

      Men are so necessarily mad, that not to be mad would amount to another form of madness. -Pascal

      by bernardpliers on Sat Nov 23, 2013 at 06:38:12 AM PST

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