• Question: What is the disease you are studying called?

    Asked by anon-253268 to Faith on 11 May 2020.
    • Photo: Faith Davies

      Faith Davies answered on 11 May 2020:

      Hi Mellisa – my disease was only discovered a few years ago, and it doesn’t have a name yet! People with my disease normally have a mixture of epilepsy, intellectual disability, movement problems and maybe autism. So they are examined by doctors to try and find out the cause – eventually the doctors will look at their DNA to see if there are any problems there that might be causing the symptoms I’ve described. One of the many thousands of possible problems you can have in your DNA is to have a mutation in a part of your DNA called the EEF1A2 gene. And that is the disease I’m investigating! If you’re interested then my boss has made a website all about it: https://eef1a2epilepsy.com/

      take care,
      Faith

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