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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!

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      #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.

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