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STUDY: Using your raw genetic data to compile in a one of a kind, ME/CFS Genetic Database

Discussion in 'Latest ME/CFS Research' started by Rebecca2z, Dec 23, 2015.

  1. Rebecca2z

    Rebecca2z Paradise, Ca

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    Paradise Ca
  2. Valentijn

    Valentijn Senior Member

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    I've sent a very short email saying I'm an ME patient and would like to share my 23andMe data with them. Based on reading the instructions, that's the only thing we need to do in the first mail, and should wait until they respond to us before giving any more data.

    So we shouldn't be sending our 23andMe data in that first email, and should only be using it to make contact. I think :p
     
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  3. Gijs

    Gijs Senior Member

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    I doubt if the resuslts of 23andMe genetics are useful for medical research in diseases. I think it is more complicated.
     
  4. Valentijn

    Valentijn Senior Member

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    It's not great, but something might turn up. It does have the advantage of being a very cheap way to take a look.

    The major problem is that 23andMe is checking a pretty small sample of the genome, and not in a particularly intelligent manner. So while something interesting might result, it can't even come close to ruling anything out.
     
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  5. Deltrus

    Deltrus Senior Member

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    It is too bad 23andme is only gathering half the data they used to.
     
  6. Gijs

    Gijs Senior Member

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    I think that ME/CFS can only studied properly if you measure genetics, bloodsamples and MRI etc... before and after exercise. This is the hallmark for this disease. The best way is hospitalization of patiënts for a few days. But this is expensive.
     
  7. Valentijn

    Valentijn Senior Member

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    Genetics won't change after exercise. Genetic expression might, but that's a rather different thing, and is going to be much much more expensive and complicated.
     
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  8. lnester7

    lnester7 Seven

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    I never heard back when I emailed
     
  9. caledonia

    caledonia

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    This is actually a study by Nancy Klimas. I think studying the genes of ME and CFS patients is a great idea - something new that is just starting to be tried out.

    The Open Medicine Institute is already studying our genetics and the NIH has proposed some thing similar.

    Now anyone can test their genes from home cheaply, so this data is becoming more widely available. So gathering data from patients who have already tested their genes via 23andme or other services seems like a no-brainer to me.

    I would expect to see MTHFR show up largely in the results - 98% of the results I've seen on this site have this mutation to one degree or another vs. 30-40% in the general population.

    However, that gene can result in about 30 different diseases. I'm hoping there's a smoking gun that would point towards ME.

    I've decided to participate in this study and I hope others will too.

    @Inester7 It does take awhile to receive emails back as there is one staffer handling everything.
     
  10. SDSue

    SDSue Southeast

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    I sent an email and heard back within a couple of days. I would imagine the holidays are slowing their response time? Note: I am a patient there.

    In their reply email, I was directed to an online questionnaire - took about 15 minutes I think. If I remember correctly, it was there that I submitted my raw 23andMe data as well. They listed 23andme and a couple of others (can’t remember which ones!) as acceptable for their use in this study.

    I miss my brain at times like this!
     
  11. Valentijn

    Valentijn Senior Member

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    This is a good example of why anecdotal observations alone are not reliable.

    Of the 31 ME patients I have 23andMe data for and have ethnically matched with controls from openSNP, their approximate reduction of MTHFR and MTRR gene functionality are the same as for the controls. 4 out of each group have no reduction in MTHFR. 6 ME patients and 4 controls have no reduction in MTRR. ME patients have an average 30.8% reduction in MTHFR functionality compared to 31.8% for controls. ME patients have a 40.2% average reduction in MTRR functionality compared to 38.4% in controls.

    These differences all seem negligible, and I've yet to see anything published showing increased levels of significant MTHFR or MTRR mutations in ME patients. They seem common on the forum because they are - but they just as common elsewhere.
     
    Last edited: Dec 30, 2015
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  12. JaimeS

    JaimeS Senior Member

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    I said I'd participate as well. :)

    -J
     
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  13. bertiedog

    bertiedog Senior Member

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    I have already shared my data.

    Pam
     
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  14. JaimeS

    JaimeS Senior Member

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    Sent my data! There were some environmental factor questions I really did not know how to answer, though.
     
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  15. Valentijn

    Valentijn Senior Member

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    Yeah, they've never heard of houses made out of concrete, which is about 95% of the Netherlands :rolleyes: Fortunately they don't have any problems with skipping questions.
     
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  16. concepcion

    concepcion Senior Member

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    Can anyone answer the following questions about the Klimas gene study?
    1. What definition are they using for me/cfs?
    2. What precautions are they taking to protect patient genetic information being sent over the internet?
     
  17. RogerBlack

    RogerBlack Senior Member

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    Genetics before and after exercise is totally unchanged.
    How those genes are turned on or off may vary, but the above tests do not find anything with regards to that.
     
  18. BurnA

    BurnA Senior Member

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    From the talk today somebody asked about diagnosis and she said that it's a question on the questionnaire - who diagnosed you, or something like that.

    I am not sure what the questions are but it's via the questionnaire how they determine patient characteristics.

    Edit: I am not sure of any precautions.
     
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  19. concepcion

    concepcion Senior Member

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    Thanks BurmA.
     
  20. ryan31337

    ryan31337 Senior Member

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    I'm glad this topic has popped up again. Nancy Klimas gave a lot of info on this at IiME17.

    I hadn't had 23andme done when the study first came around and by the time I did, I assumed I had missed out. Definitely not the case though, there is still a big push to get this project 'viral' and Klimas encouraged everyone appropriate to send in results and share, share, share.

    @concepcion, @BurnA has it right - they apparently have questionnaire fields to specify known doctors/clinics, which will imply a robust diagnosis, and perhaps will do some further criteria grouping/analysis based on that. Even unknown/self-diagnosis will have some use when the numbers are large enough, apparently.

    I found it interesting to learn the scales involved in getting useful data out of these genetic studies. From memory Klimas said she currently had around 600 participant data sets, but needs approx. 30,000. That's the sort of numbers required to see useful trends. I'm pretty foggy on this but I think she said from the current data they have been able to see suggestions of the current known issues (glucose metabolism etc.), but for unknown things to jump out they'll need way, way more sets of data.
     
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