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Translational research in MND: Our partnership with LifeArc

Translational research in MND: Our partnership with LifeArc

Reading Time: 4 minutes Translational Research is the term used to describe studies that are the bridge between fundamental laboratory-based research and the testing of potential therapies (often by pharmaceutical companies) in the clinic. Without the continued journey of research concepts and ideas from all research and development stages from ‘bench to bedside’ it is almost impossible to develop…

Should routine genetic testing be considered for all cases of MND?

Should routine genetic testing be considered for all cases of MND?

Reading Time: 9 minutes A paper arising from research carried out at the University of Sheffield as part of the AMBRoSIA biobank, and in collaboration with the international Project MinE gene-hunting consortium, was recently published in the Journal of Neurology, Neurosurgery and Psychiatry. Researchers propose that a test for the most common MND genes could be offered to all…

Virtual Symposium: Through the eyes of an early career MND researcher

Virtual Symposium: Through the eyes of an early career MND researcher

Reading Time: 4 minutes This blog is part of the ‘Virtual Highlights’ collection of articles, where you can read about the content of some of the talks and posters presented at the Virtual 31st International Symposium on ALS/MND. Guest researcher blog post written by Nora Markus, 2019 Symposium Biomedical Poster Prize winner. About me My name is Nora Markus,…

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…

Closing the door on toxic proteins – new clues in understanding a genetic form of MND

Reading Time: 3 minutes The defects in the C9orf72 gene are known to cause motor neurone disease, but researchers don’t understand why. Defective copies of this gene are passed down in some families affected by the rare, inherited form of MND. This week MND Association grantees Drs Guillaume Hautbergue, Lydia Castelli and colleagues, based at the Sheffield Institute of…