Close
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…

Collaboration and Consortium Cracking the Code: Uncovering KIF5A – MND gene

Reading Time: 5 minutes ‘Big data’ projects require detailed analysis of unimaginably large volumes of complex data. This is especially true in the realm of MND gene discovery when searching for MND-associated genes – where the greater the number of samples analysed, the greater the possibility of finding the relatively less frequently occurring genetic causes (known as ‘rare’ variants).…

Understanding disease variability – the 2017 IPG prize winner
IPG Prize

Understanding disease variability – the 2017 IPG prize winner

Reading Time: 3 minutes Warmest congratulation to Dr Marka van Blitterswijk of the Mayo Clinic in Jacksonville, Florida, winner of this year’s Paulo Gontijo Prize in Medicine. The Award is presented to an outstanding young investigator working on ALS/MND, with judging based on the significance of a recent scientific paper published by each applicant, plus an evaluation of the…