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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,…

Rapid development of the Telehealth in MND (TiM) Platform

Rapid development of the Telehealth in MND (TiM) Platform

Reading Time: 3 minutes Guest researcher blog post written by Liam Knox: My name is Liam Knox and I am a Postdoctoral Research Associate who has recently joined Dr Esther Hobson and Prof. Chris McDermott (consultant neurologists) on the Telehealth in Motor Neuron Disease, or ‘TiM’ for short, project at the Sheffield Institute for Translational Neuroscience (SITRaN).

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…

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…

Can zebrafish help us to learn more about MND?

Reading Time: 2 minutes A team at the Sheffield Institute for Translational Neuroscience are creating a zebrafish model to study the C9orf72 gene mutation in MND, and work out its role in the brain and spinal cord (our reference 864-792). Zebrafish are a good way of modelling what happens in human MND. We know that many of the genes…