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
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
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