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Project-MinE

Reading Time: 2 minutes Barbara Thuss is project co-ordinator for Project MinE, an international initiative with the aim of sequencing at least 15,000 MND genomes. We announced earlier today that the MND Association is funding the UK-arm of this initiative, known as the Whole Genome Sequencing project. Here Barbara explains more about Project-MinE. Although the precise cause of MND is still…

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…