Remember the Ice Bucket Challenge? It was a genuine craze almost two years ago, with movie and TV celebrities, politicians, businesspeople, and basically everyone enjoying summer at the time throwing one bucket after another of ice water. The initiative quickly went viral, and although it also received its share of criticism, today we can say that the money raised helped identify a gene linked to amyotrophic lateral sclerosis, which could open the door to a new series of treatments.
We all agree that the Ice Bucket Challenge was not perfect. The initiative reached a point where its original message was completely lost in that banal nebula that the Internet can sometimes be, but we also cannot consider it a failure. In fact, the ALS Association confirmed that the campaign raised approximately 115 million dollars, of which 67 percent was allocated to various research projects. One of those projects is MinE, an international sequencing effort aimed at discovering and identifying new genes associated with amyotrophic lateral sclerosis, whether familial (read "genetic") or sporadic. The good news? One of those genes has just appeared.
According to the official announcement from the ALS Association itself, the gene is named NEK1, and it is shaping up to be one of the most common contributors to the disease. In essence, NEK1 was discovered thanks to Big Data, but not the ultra-commercial and invasive "Big Data" we know, but rather the one that coordinates the efforts of eighty researchers in eleven different countries, and processes the genomes of at least 15,000 people with ALS. The financial help from the Ice Bucket Challenge allowed obtaining genetic samples from other regions of the globe, and the discovery of NEK1 itself came through a search for "risk genes" in a group of a thousand families with ALS, with its location within an isolated group in the Netherlands.
Of course, this is just one step on the long ladder of research, but a deep understanding of the NEK1 gene and a precise evaluation of its influence on ALS will surely give rise to a new series of treatments to present a harder challenge to the disease, and achieve what we all want: to defeat it once and for all. At the end of the day, despite all its viral madness, the Ice Bucket Challenge gave a hand.
