Steps to understanding MND

Love them or loath them, the band Steps’ first single ‘5,6,7,8’ was a techno line dance song released in 1998 from their debut album ‘step one’, with the B side ‘words of wisdom’.

Using this forced and purely tenuous link and an equally awkward segue, I would like to share with you the news that the journal Neurology this week published further words of wisdom from Professor Adriano Chio, Professor Ammar Al-Chalabi and colleagues, that revisits the multistep hypothesis of MND. Their previous work showed that when no genetic cause is considered, developing MND is a six-step process. In their most recent work, the team investigated how many of the steps does a genetic mutation account for in this multistep process, with a focus on the most common MND causative genes SOD1, TARDBP, and C9ORF72.Read More »

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 »

Mice and Marbles: A CRISPR Model of Motor Neurone Disease

In a study published in Nature Neuroscience this week, a collaboration led by Dr. Jemeen Sreedharan and colleagues from King’s College London, the Babraham Institute and the University of Cambridge have published a new mouse model of Motor Neurone Disease (MND).

The study takes advantage of cutting edge gene editing technology called CRISPR/CAS9 to generate a mouse model of the human disease that accurately mimics a genetic component found in some people affected by MND. The researchers used the gene editing technology to precisely change (mutate) the gene that the body uses to produce the protein TDP-43, a very important player in the MND story implicated in almost all cases of MND.Read More »