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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…

Re-evaluating clinical trial guidelines for MND

Reading Time: 3 minutes To mark International Clinical Trials Day (20 May) we reflect on the ALS Clinical Trials Guidelines workshop that took place in March. The MND Association co-sponsored this successful meeting, held at Airlie House in Virginia USA. Approximately 140 delegates from across the world attended, including 11 MND researchers and doctors from the UK. Why was…

Breaking the Human Genome Code

Reading Time: 3 minutes Professor Winston Hide gave his inaugural lecture on 17 March, during Brain Awareness week, entitled ‘breaking the human genome code – opening Pandora’s box’, which you can watch in full at the end of this blog post. Professor Hide recently joined the University of Sheffield, and MND Association/ Medical Research Council (MRC) Lady Edith Wolfson Clinical Research Fellow, Dr…

Cycling to ENCALS – “on yer bike”

Reading Time: 3 minutes Medical Research Council (MRC)/ MND Association Lady Edith Wolfson Clinical Research Fellow, Dr Johnathan Cooper-Knock, is based at the Sheffield Institute for Translational Neuroscience (SITraN), at the University of Sheffield. The Tour de France ends up in Sheffield a week today, so to get you into the cycling spirit, John blogs about the Sheffield to Leuven…

The UK MND DNA Bank 6 months on…

Reading Time: 5 minutes It’s been six months since the UK MND DNA Bank (DNA Bank) opened its doors to researchers around the world, so what has been happening to all those samples? Dr Lucy Smith, Research Information Administrator at the MND Association, explains: The DNA Bank is the first UK biobank dedicated to MND and has 3000 samples under…

Jolly Good Fellows!

Reading Time: 6 minutes There’s a scene in the 1969 film Battle of Britain where Laurence Olivier, who plays the Air Chief Marshal, is in a meeting with his two Vice Marshals. One of them complains that they don’t have enough planes; the other is more concerned with keeping the airfields working. Olivier silences them both by telling them that…

The C9orf72 mystery begins to unravel even more of its secrets

Reading Time: 4 minutes In 2011 an international team of scientists, including three MND Association-funded researchers, identified the elusive C9orf72 gene located on Chromosome 9. Since this ground-breaking discovery, researchers from around the world have been trying to find a way to open-up and reveal more about this MND-causing gene. Determined to get inside and unravel the secrets behind…

New fellowship explores how C9ORF72 causes MND

Reading Time: 4 minutes Dr Johnathan Cooper-Knock from the Sheffield Institute for Translational Neuroscience (SITraN) has been awarded with the fifth Medical Research Council (MRC)/MND Association Lady Edith Wolfson Clinical Research Fellowship. Through his three-year fellowship, Dr Cooper-Knock will use the MND Association’s DNA bank to study how recently discovered mistakes (known as mutations) in a gene called C9ORF72…