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    #16
    More info here

    https://www.mndassociation.org/about...inherited-mnd/
    Each day is made easier with a bit of humour.

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      #17
      Hi Gary
      thanks for that. Stephen is waiting for his results. We have no idea about his family history. I have told my children because I feel it's better for them to be aware. It's a difficult one to know what to do. We just wait and hope for the best.

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        #18
        Nobel prize awarded to 2 women with regard to gene editing.

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          #19
          Yes, fantastic news!

          Doug

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            #20
            would anybody know where I can get a list of the 30 genes referred to in this thread please?

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              #21
              Welcome to the Forum, GJ.

              Click on this photo to enlarge it.

              ALS Genes List (2).jpg
              ​Diagnosed 03/2007. Sporadic Definite ALS/MND Spinal (hand) Onset.
              Eye gaze user - No functional limbs - No speech - Feeding tube - Overnight NIV.

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                #22
                Bless you Ellie!

                Doug x

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                  #23
                  Hi All,

                  Precision medicine is really exciting and I believe our only hope.

                  I participated in the 100,000 Genomes Trail two years ago and I found that I have a spelling mistake in my DCTN1 gene. But much more than that, the researchers were able to model how the gene works and predict that I would suffer as a consequence. Straight after that I was advised that it was only a possibility and not to get my hopes up.

                  There is no MND in my family until me, however there is neuropathy on my father's side including PSP, that is similar to MND. A pathway.

                  I am hoping that in the too not distant future, even including my lifetime, the NHS will be able to model a cure and be able to offer a treatment.
                  Copyright Graham

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                    #24
                    Originally posted by Ellie View Post
                    Welcome to the Forum, GJ.

                    Click on this photo to enlarge it.

                    ALS Genes List (2).jpg
                    thank you

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                      #25
                      Bernie - I can relate to the the Monty Python sketch you mentioned... it makes me giggle when I have difficulty moving
                      I have the ability to cope with this and I can still be the best person I can be. This is my life - if I am happy others around me are happy too

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                        #26
                        Graham
                        what made you do the genome trail? Did you already have a diagnosis?
                        Denise xx

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                          #27
                          Yes it was relatively recently that I did it. Generally when you are diagnosed it is the end of story as far as the hospital is concerned. MND treatment is to as yet none existent but pretty soon I hope, gene therapies will be offered. Early stage trials are ongoing around the world. You have to know what gene is faulty in order to fix it. Of course it is playing with the stuff of life and it is fraught with complexity but trials are ongoing. Hugs Graham xx
                          Copyright Graham

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                            #28
                            I also go by the name 'Biggus' not Bernie, Jeanette.

                            https://www.youtube.com/watch?v=kx_G2a2hL6U
                            Last edited by Graham; 27 October 2020, 04:53.
                            Copyright Graham

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                              #29
                              What about sillious soddus?

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                                #30
                                Brilliant sketch that, Graham . One of my favourite films The Life of Brian. I might even watch it, I need a good laugh.
                                Each day is made easier with a bit of humour.

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