Motor neurone disease (MND) is one of the least explored biomedical mountains still standing. It is a devastating disease in two respects. It has a profound impact on those diagnosed – causing rapid muscle wastage – and it’s also currently without a cure.
Around 90% of people diagnosed with MND will have amyotrophic lateral sclerosis (ALS). ALS is a progressive neurodegenerative disease that damages the nerves in the brain and spinal cord that are called motor neurones. Signals from the brain stop reaching muscles, leading to their degeneration. This eventually affects the muscles that are used to swallow food and drink, and those used to breathe.
There is a 1 in 300 chance that a person will develop MND, and while it can affect individuals of any age, the likelihood of receiving an MND diagnosis increases with age. The highest rates of MND are typically observed in the 70–79 age bracket, as the aging process reduces the brain’s signals to motor neurons which is a key feature of the disease. This aligns with broader research showing that neurodegenerative diseases often emerge as the cumulative effects of aging-related processes – such as cellular senescence, mitochondrial dysfunction and the breakdown of proteostasis – begin to overwhelm the brain’s resilience.
Worldwide, there are around a third of a million people living with MND and around 5,000 of that number are based in the UK. All of them will experience the disease in starkly different ways. The disease’s scientific complexity and the lack of reliable ways to track progression continue to pose challenges for researchers, making it incredibly difficult to gain a comprehensive understanding of MND. While there have been many clinical trials of potential new treatments, high rates of failure persist.
Having built a career in health research, I can say with confidence that MND is one of the most scientifically and biologically challenging diseases to tackle. That said, no mountain is insurmountable, and it is this mindset that has enabled progress to be made over the past decade – thanks to the tireless work of great minds and organisations across the globe.
These efforts, increased collaboration, and fundraising activities such as the ALS Ice Bucket Challenge have helped to place a spotlight on MND. In tandem, developments in artificial intelligence (AI) and considerable improvements in data collection processes, such as large-scale genomic screening resulting in the generation of large amounts of data relating to MND, have also been significant, given the value of data when trying to understand a complex neurodegenerative disease.
Thanks to these societal and technological advancements over the past decade, we as scientists have been able to wrap our hands around the biology and phenotypes of MND. Most critically, we are starting to unravel the complicated map of all the events that converge to cause the death of motor neurones , which includes misfolded proteins and disruption of cellular processes. This breakthrough, along with others, has led to the development of drugs such as riluzole and tofersen, which have been shown to slow progression of the disease for some people living with MND.
Despite these advances, many challenges remain. Data is an enormously valuable tool, however, for progress to be made, we need large volumes of this data to be available in one place rather than the current fragmented datasets dotted around the world, each of which comes with unique access restrictions and formats.
That’s where the Longitude Prize on ALS comes in; a new £7.5 million international challenge prize designed to incentivise and reward cutting edge AI-based approaches to transform drug discovery for the treatment of ALS.