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What's known about Monogenic Diabetes is changing all the time

Discussion in 'Parents of Children with Monogenic Diabetes' started by ChristineJ, Sep 15, 2012.

  1. ChristineJ

    ChristineJ Approved members

    Dec 25, 2010
    As noted in my signature, my son is involved in MODY research at Kovler/University of Chicago. They are testing for additional mutation(s), since it's felt that his diabetes is atypical for MODY 2. The researchers feel there are definitely two types of diabetes involved, though it's not clear what the other diabetes type is yet. I spoke to one of the doctors there recently to provide an update on how he's doing, as well as get updated on the status of his genetic testing. One of the things we discussed, since my son had failure to thrive as a newborn, is testing for a Transient Neonatal Diabetes mutation. They will be testing for several different TND-causing mutations, including ABCC8, KCNJ11, and INS.

    After discussing specifics about my son's case, we went on to discuss certain aspects of Monogenic Diabetes research in general. The MD stated the research is ever-changing. The researchers are finding that characteristics of particular Neonatal Diabetes and MODY mutations that they thought were true are turning out to be different after all. Even the more well-known and studied mutations, like MODY 2 and MODY 3, are turning out to present differently than they previously thought. One of the mutations, ABCC8, which they had previously known to cause Neonatal Diabetes had been found to cause MODY in patients without a known history of Neonatal Diabetes.

    I found our conversation highly informative and very, very interesting. It's an exciting field of research, and one that continues to evolve!:)

    Last edited: Sep 15, 2012
  2. C6H12O6

    C6H12O6 Approved members

    Sep 16, 2008
    thanks for posting. you're right it's an exciting field of research.

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