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

DNA magnification glass pitchfork3‘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). Literally a needle in a haystack.

These discoveries are no less important, as each new discovery is highly significant and provides another piece of the puzzle in our understanding of the causes and avenues to target for potential treatments. A clear example of this is collecting and mining the data from tens of thousands of human ‘genomes’ to identify the genes responsible for MND. By working together, researchers can greatly increase their ability to tease out the difficult to find discoveries.Read More »

Dr Arpan mehta

11th Lady Edith Wolfson Clinical Fellowship awarded

We are delighted to announce that Dr Arpan Mehta has been appointed as our latest Lady Edith Wolfson Fellow, jointly funded by the MND Association and Medical Research Council.  This clinical research training fellowship will help to launch his career as an aspiring academic neurologist, providing comprehensive training in cellular, molecular and bioinformatics technologies in a world-class environment.Read More »

Collaboration between cancer and MND researchers produces exciting results

It’s been a busy couple of weeks for exciting research results! Hot on the heels of the publication of Dr Turner’s imaging study, MND Association-funded researchers who pioneered a state-of the art technique adapted from cancer research have just published results describing some of the earliest events in MND-related degeneration.

Prof Giampietro Schiavo and colleagues at Cancer Research UK worked with Prof Linda Greensmith, an experienced MND researcher at University College London, to modify a process known as ‘multiphoton microscopy’, which had previously been used to visualize the migration of cancer cells. This allowed them to watch important ‘cargo’ being transported around motor neurones.

In their report published this week in the journal PNAS, the researchers have described how the transport of nerve-nourishing substances from the end of the neurone where it connects to the muscle back up towards the neurone’s ‘control centre’ in the spinal cord is slowed at the very earliest stages of MND. This suggests that transport systems could be a key target for drug development. Further details on the research are available on our website.

A key element of our strategy is to increase the capacity of the MND research workforce. Encouraging experts from other fields to collaborate with established MND researchers is one way of achieving this so we are really pleased to see the alliance between Profs Schiavo and Greensmith bear fruit. This is a great example of ‘thinking outside the box’ to progress MND research and the cross-fertilisation of knowledge and ideas between scientists working in different research areas.

Reference: Bilsland LG, Sahai E, Kelly G et al. Deficits in axonal transport precede ALS symptoms in vivo. Proc Natl Acad Sci U S A. 2010 Nov 8. [Epub ahead of print] doi:10.1073/pnas.1006869107