The Ice Bucket Challenge, a fund-raising craze that took the Internet by storm in 2014, has led to a major breakthrough by aiding the discovery of a gene variant associated with the motor neurone disease.
Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease, which affects neurons in the brain and spinal cord. Patients often lose the ability to initiate and control muscle movement, and can suffer from paralysis and even death within two to five years of being diagnosed with the condition. Surprisingly 10% of ALS cases are genetic, whereas the remaining 90% are considered to be caused by non-genetic factors.
In October 2014 the ALS Association declared funding for Project MinE, an international effort to help at least 15,000 people suffering with ALS. Project MinE was established by Bernard Muller and Robert Jan Stuit, who both suffer from the condition. Both men believe it is essential to speed up genetic understanding of the disease after touring the Research ALS Centre in the Netherlands, where thousands of DNA samples were not being used due to the high expense.
“This study was only possible because of the collaboration of all of the scientists involved,” said John Landers, PhD, professor of neurology at UMass Medical School. “It is a prime example of the success that can come from the combined efforts of so many people, all dedicated to finding the causes of ALS. This kind of collaborative study is, more and more, where the field is headed.”
More than 80 researches in 11 countries contributed towards the study of this disease – the largest study of familial ALS yet.
“The discovery of NEK1 highlights the value of big data in ALS research,” commented Lucie Bruijn, PhD, MBA, of The ALS Association. “The sophisticated gene analysis that led to this finding was only possible because of the large number of ALS samples available. The ALS Ice Bucket Challenge enabled The ALS Association to invest in Project MinE’s work to create large biorepositories of ALS biosamples that are designed to allow exactly this kind of research and to produce exactly this kind of result.”
The NEK1 variant appears in only 3% of patients, meaning there are more genes that increase the risk of motor neuron disease to be discovered. This gene helps repair DNA damage that increases as we age, which relates to motor neuron disease being rare in under 40s and rearing its ugly head after people turn 50 or older. Jan Veldink, PhD, who led the recent research at University Medical Centre in Utrecht, stated: “It may be that DNA repair is less efficient than in healthy people,” suggesting this is a possible cause behind the disease.
The Ice Bucket Challenge has raised more than £7 million for the MND Association in the UK, with more than £5 million being donated to research and £1.5 million to Project MinE. The successful campaign created a spike in donations in the summer of 2014, particularly from young people, but donations have remained high ever since.
Researching this complicated condition needs to continue, and scientists are clearly heading in the right direction with this new discovery. It proves that the Ice Bucket Challenge was a demonstration of how public fundraising can help patients in the fight against motor neuron disease.