Close
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…

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…