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    Precision medicine

    This is just to report briefly on a meeting of the Oxfordshire branch of the MNDA that was held yesterday afternoon. It was attended by Richard Coleman, Chair of MND Trustees.

    The main speaker was Prof Kevin Talbot, Head of the Nuffield Department of Clinical Neurosciences at the John Radcliffe Hospital in Oxford, who gave a very informative talk on Precision medicine – How close are we to effective treatments.

    He summarized what research into MND has achieved over the last three decades and where it is heading. Since the discovery of the SOD1 gene in 1993, some 30 genes relevant to MND have been identified. Detailed knowledge of a patient’s genome – not difficult to obtain nowadays – can lead to targeted treatment for certain diseases.

    He explained three approaches to combatting the effects of a mutated gene: gene editing, antisense oligonucleotides and the use of antibodies. However, the situation with sporadic MND, which accounts for 85% of cases, is more complicated. For example, why do some people with C9orf72 never develop MND? Similarly, what triggers the onset of MND – we were issued with our genome at birth. What causes MND to suddenly appear in adulthood and often quite late in life? A multi (5-7) step model seems to be the best explanation and fit to the data.

    Overall, I got the impression he felt that good progress was being made, but that effective treatment for, especially, sporadic MND was still several years away. He himself has a very small experiment running looking at converting skin cell to stem cells and then modifying the C9orf72 gene using CRISPR-Cas9. But this is still at the petri dish stage!

    A number of other points emerged:

    Unlike in some cancers, there is little evidence that environmental effects e.g. smoking, play much part in MND.

    The NHS has good records that may help researchers, but the database is too small and international collaboration is needed.

    When talking about Riluzole, which he thinks is a good thing, Prof Talbot mentioned that half the medicines prescribed, dispensed and PAID for in the UK are never taken. What a waste of resources!

    Doug

    #2
    Hi Doug,

    Thanks for this useful update on the work being carried out by the Oxford Centre.

    Barry
    I’m going to do this even if it kills me!

    Comment


      #3
      Hi Doug,
      Thanks for the very encouraging news,I wish there was something we could all get now .
      I'm so fed up with my situation, I've got half an arm left that moves.
      I feel like that fella from a monty python film that's still trying to fight after having all his limbs chopped off ;-) xxx

      Comment


        #4
        Hi Doug,

        Thank you for sharing some very interesting information from the OxfordshIre branch meeting.

        I have often wondered if a major trigger or cause of MND could be air pollution, especially as the air has become much more polluted over the years. I thought that the increase in air pollution might go some way to explain the increase in the proportion of the population diagnosed with MND (according to the MND website, now 1 in 300, rather than 1 in 400).

        However, from reading your post, I realise that I'm probably very wrong - because it sounds like there is little evidence that environmental factors are significant. So, in future, I think I should probably leave the theorising about this issue to the scientists!

        It is encouraging to hear that so much research is taking place. It's a fascinating subject to read about and discuss, but I agree with Bernie that the current situation can be rather frustrating for all of us.

        Hopefully, each new hour of research will bring the scientists one hour closer to discovering a cure.

        Best wishes,
        Kayleigh x
        Last edited by Kayleigh; 28 January 2019, 00:18.

        Comment


          #5
          Following on from Doug's post and something to listen to over breakfast some morning.....

          This video includes talk on Precision Medicine, which some will find interesting. (Parts of the video won't really be relevant to many, as it's Ireland-based)



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

          Comment


            #6
            Thnx Ellie, v important 4 pwmnd 2 get gene tested. i av asked a q at t upcoming mnda agm about gene testing 4 every1. its clear dat its essential cos of t promise of a cure by t numerous trials takin place. t meat of t vid starts at 17 m.
            Copyright Graham

            Comment


              #7
              Thanks ever so much Ellie!

              It’s a great overview of several aspects surrounding MND. Good to get an update on MIROCALS and trial design generally.

              Loved the accents!

              Here’s a link to “Watch your back MND”
              https://www.youtube.com/watch?v=I2ynJACT7Fc

              Doug

              Comment


                #8
                Hi Doug
                thanks for that. Still lots of unanswered questions as to why but hopefully one day!
                Denise

                Comment


                  #9
                  Hi Denise

                  We've Ellie to thank really. I just watched it.

                  And I forgot to say how impressive it was that the TCD clinic continued to deliver great support to their MND patients throughout the Cvid-19 lockdown.

                  Keep smiling!

                  Doug

                  Comment


                    #10
                    Originally posted by Doug Carpenter View Post
                    And I forgot to say how impressive it was that the TCD clinic continued to deliver great support to their MND patients throughout the Cvid-19 lockdown.
                    Yes it was indeed Doug - it worked very well and continues to.

                    And we were all given a 24hr contact number which was manned by a member of the team, so no Locum Dr or the likes. The people running the Survey on another thread could learn a lot from it!!

                    Love Ellie.

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

                    Comment


                      #11
                      So gene testing? How is this done? Where's it done and can anyone have it? My husband has had a blood test to see if it is hereditary. Is this the same thing? As yet do not have results but I'm thinking of my children. Perhaps they should go ahead and be tested rather than wait. Then i think then they can be helped before but then there doesn't seem to be a definite they will get it. Its all rather in the air. What has everyone else done?

                      Comment


                        #12
                        My neurologist sorted my gene test and I discovered that my dear dead mum passed me a duff gene. Happy Days 😊x

                        Comment


                          #13
                          Oh Matthew. Did your mum have it then or did she have the gene but it didn't activate. If that's the right word? Was it just a blood test? 😘

                          Comment


                            #14
                            Ok so I have another question (sorry) so many people say they have problems getting a diagnosis so do I take it a gene test will show that they do have mnd? Or Not? Or is that too simple or am I thick and have missed something 🤔

                            Comment


                              #15
                              Only about 1 in 10 people with MND have the inherited form. I had the genetic test done (blood test), but the consultant expects it to be negative because no family history of neurological illness. We don't have children, but my sister does and the consultant cautioned me to consider the effect on her if the result was positive. She would have 50% chance of having the gene and her children 25% chance each.
                              Each day is made easier with a bit of humour.

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