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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
Dr Johnathan Cooper-Knock and PhD student Tobias Moll, based at the SITraN institute

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
According to the multistep hypothesis, the six steps necessary to develop MND reduce to four in people with TARDBP gene mutation, three steps in C9ORF72, and two steps in SOD1.

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…

Professor Ammar Al-Chalabi wins prestigious prize

Reading Time: 2 minutes Huge congratulations to Professor Ammar Al-Chalabi for winning the prestigious Sheila Essey Award at the American Academy of Neurology (AAN) research conference taking place in Vancouver, Canada. Professor Al-Chalabi is an MND Association funded researcher and Professor of Neurology and Complex Disease Genetics at King’s College London. He is also the Director of our MND Care and Research…