Holly Parmenter, Digital Projects Executive: Back in 2014, the charitable craze of dosing one another in ice-cold water (better known as The ALS Ice Bucket Challenge) went viral. This was all in aid of raising awareness and research funds for amyotrophic lateral sclerosis (ALS).
The incurable progressive neurodegenerative disease predominantly affects the brain and spinal cord, resulting in entire paralysis. Physicist Stephen Hawkins is a well-known sufferer and helped raise awareness during the ALS Challenge as his children gallantly participated on his behalf.
Though seemingly buried deep within the vast world of social media, the ALS Ice Bucket Challenge has resurfaced; not with ice but with results. The Ice Bucket Challenge raised $115m (£87.7m), which funded six research projects.
One of these was Project MinE, an extensive study involving more than 80 researchers in 11 different countries. This study examined ALS risk genes in families affected by the disease and, thanks to the funding for research raised by the Ice Bucket Challenge, an important scientific discovery was made – the identification a new gene that contributes to the disease, NEK1.
The identification of gene NEK1 means scientists can now develop a gene therapy to treat it. Although only 10% of ALS patients have the inherited form, researchers believe that genetics contribute to a much larger percentage of cases.