After the widespread publicity of the #IceBucketChallenge across social media in 2014, where, naturally, it went viral, many wondered what would become of what seemed another short-lived online phenomenon that would fade out and be forgotten. However, the encouraging breakthrough in Motor Neuron Disease research announced today, was the result of that very crowdfunded campaign.
Who would have thought that people pouring buckets of ice water over themselves would have led to such a remarkable advance in MND research? In the summer of 2014, the ice bucket challenge raised over £88 million in just one month. These proceeds were used collaboratively by 80 scientists in 11 countries including the Netherlands, the UK and the US to amass research on the devastating disease.
Many well-known celebrities participated, helping to create awareness of the campaign; notable contributions include Eminem, Leonardo di Caprio and Justin Timberlake.
Motor neuron disease, also known as Amyotrophic Lateral Sclerosis (ALS), is a progressive neurodegenerative disease which is not yet curable and thus extensive research is being conducted in order to find a successful treatment. However, research grants are not easily come by so this campaign was absolutely vital, it would appear, to give MND research a new edge.
Another factor in the success of this research was the inception of Project MinE to collect DNA samples from people affected by ALS, pioneered by Dutch entrepreneur Bernard Muller, who was diagnosed with the disease in 2010. This has since become an international project, leading to the collection of many thousands of samples of DNA which has given the research credibility and buying power.
An article published in the prestigious Nature Genetics journal explains that a gene variant of C21orF2 called NEK1 has been found to confer a higher risk of developing motor neuron disease. Three further gene variants- MOBP, SCFD1 and TBK1 were also found to increase the risk of developing the disease.
One in every 400 people will develop motor neuron disease at some point in their lives. Help understand the cause:
Journal reference: Kenna et al Nature Genetics 2016 doi:10.1038/ng.3626