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Genetics and MND

Genetics and MND

Reading Time: 5 minutes This is blog number two in our ‘Symposium Blogathon’ – counting down to the 32nd International Symposium on ALS/MND. Numbers in bold green text correspond to the code in the abstract book. Click on the number to be redirected to the full abstract (the page may take a minute to load). Approximately 10% of people…

FaTHoM 2: UK-leading MND clinicians on inherited MND

FaTHoM 2: UK-leading MND clinicians on inherited MND

Reading Time: 4 minutes After its successful premiere in 2017, the University of Oxford organised another meeting of people affected by inherited MND, called ‘Families for the Treatment of Hereditary MND (FaTHoM)’. This turned out to be yet another excellent day where MND clinicians-researchers presented on topics such as genetics of MND, genetic testing and gene therapies. Below you…

GLT8D1: new gene identifies novel disease mechanism

GLT8D1: new gene identifies novel disease mechanism

Reading Time: 3 minutes MND Association-supported clinical fellow Dr Johnathan Cooper-Knock, and a PhD student Tobias Moll, report mutations in a new MND gene which has uncovered a previously unknown disease mechanism. The new MND causing gene holds instructions for a class of proteins, called glycosyltransferase (GLT8D1), which has not previously been associated with neurodegeneration. During the experiments, published…

Steps to understanding MND

Steps to understanding MND

Reading Time: 3 minutes Love them or loath them, the band Steps’ first single ‘5,6,7,8’ was a techno line dance song released in 1998 from their debut album ‘step one’, with the B side ‘words of wisdom’. Using this forced and purely tenuous link and an equally awkward segue, I would like to share with you the news that…

Fathoming MND

Reading Time: 4 minutes This article was written by our Senior Clinical Fellow Prof Martin Turner, a Consultant Neurologist at John Radcliffe Hospital, Oxford. “Will it affect my children?” This is one of the questions most commonly asked by people diagnosed with MND. The 20th century answer was a simple “no”, or at least “very unlikely”. With recent scientific…

New ALS review article available

Reading Time: < 1 minute Last week, The New England Journal of Medicine (NEJM) published a review article by Professors Ammar Al-Chalabi and Robert Brown, in which they looked at the up to date evidence on the incidence of ALS, pathological mechanisms of the disease, as well as genetics and therapeutic strategies. We would very much like to thank the…