The Power and Pitfalls of Omics: George Davey Smith’s storming talk at ME/CFS conference
Read about the talk that stole the show at a recent ME/CFS conference in Simon McGrath's two-part blog.
Discuss the article on the Forums.

"Cracking the Code" -- father unravels medical mystery

Discussion in 'Genetic Testing and SNPs' started by Allyson, Oct 21, 2013.

  1. Allyson

    Allyson

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    Australia, Melbourne

    but does the human genome project contribute anything? I thought theywere well uneder way and guessed th4ey would have thousands of sequences up by now? just a guess.

    Ally
     
  2. wastwater

    wastwater Senior Member

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    I'm looking in this area for myself now,Leukodystrophy
     
  3. JPV

    JPV ɹǝqɯǝɯ ɹoıuǝs

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    I can send you mine if you're interested.
     
  4. anciendaze

    anciendaze Senior Member

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    The Human Genome Project was only a start, and it concentrated on the part of the genome which codes for proteins known to be used. This amounts to 2% of your DNA, and the amount actually active at any particular time may only be 1%. A project named ENCODE went much deeper in trying to find out what was going on in the "junk DNA".

    There is a great deal of controversy about what constitutes functional DNA. Some of the higher figures quoted are 80%, and even the possibility this will ultimately turn out to be close to 100%. There are critics who claim the whole project was mismanaged from a scientific standpoint, and the result should be much closer to earlier estimates.

    What gets overlooked in the controversy is that even the critics are saying that 9% of the DNA is active and functional. Depending on what you consider the previous percentage of non-junk DNA to be this could be 4.5 or even 9 times earlier estimates. This is a huge gap in our understanding.

    If you can find a match with some known problem you may save a life, and Stephen Kingsmore has done just that with technology that can sequence the whole genome of a sick infant in less that 24 hours. I've read that he was able to identify the genetic disease in 28 out of 44 cases, and could recommend a treatment in 14 cases. Perhaps 5 infants have been saved so far as a result. Unfortunately, this is still a minority of cases.

    We are still very much in the dark about what a lot of this genetic material is doing. I'm working on a blog post on what has been discovered so far. A great deal of our understanding of basic human biology is in the process of changing, and I really wonder how the medical profession is going to deal with this.
     
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  5. wastwater

    wastwater Senior Member

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    I enrolled on the PGP UK project but they don't seem to be taking samples.
     
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  6. wastwater

    wastwater Senior Member

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    Leukodystrophy/leukoencephalopathy can be very serious and quite obvious like in lorenzos oil.
    I saw another example of leukodystrophy in the documentary,the curious case of the Clarke brothers,that caused them to become childlike again,so there are different types,Im wondering which one would be most likely to mimic ME/cfs as far as leukodystrophys go it would be a fairly mild one,any ideas I know there are lots of leukodystrophys.I was surprised to see ADEM comes under Leukodystrophy
    http://ulf.org/types-of-leukodystrophy
     

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