Motor Neuron Disease Breakthrough - The UK Report in The Helix

Since living in the UK, I have been reporting in a regular column in The Helix. The Helix is one of CSIRO's magazines and has been Australia's premier science education magazine since 1986.

The column deals with the science stories that have been featured in the UK media. I have written about some of them here on the blog - for example the UK Wi-Fi scandal.

Here is a story I wrote about breakthroughs in Motor Neuron Disease research:

British and Australian scientists have made an incredible breakthrough in the understanding of motor-neuron disease.

The international effort between King's College London and the ANZAC Research Institute at Sydney's Concord Hospital has identified an inherited genetic mutation believed to be associated with the underlying source of the crippling condition.

Motor-neuron disease is caused by the death of nerves cells – motor neurons – that connect the spinal cord and brain with muscles. 2 in every 100,000 people develop the condition each year, with life expectancy after onset between 2 and 5 years. One notable exception is Professor Stephen Hawking, who has remarkably lived with the disease for 45 years.

The research suggests that a genetic abnormality produces a toxic protein known as TDP-43. Sufferers of the condition were previously known to have high levels of the protein in dying nerve cells, but it was thought this was caused by the damaged cells trying to repair themselves. Now however, the researchers think that it is the protein itself doing the damage.

Lead researcher Professor Chris Shaw from Kings College says that this is the most significant breakthrough in motor-neuron disease research in 15 years, however considers a cure a long way off.

"It is a new biological tool to understand the disease and develop treatments… However, a cure for any neurological disease is a long way off. It's really hard to say how far off it is, but this is certainly a major leap forward in that direction."