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Scientists have made an important genetic discovery in relation to Amyotrophic Lateral Sclerosis (ALS). It has been made possible by the funds generated through the ice bucket challenge that took the social media by storm two years back and saw millions, including celebrities, participating in the challenge.
The ice bucket challenge raised awareness about ALS around the globe and led to the accumulation of over $115 million for a foundation called the ALS Association. The association is involved in creating awareness about the disease and takes steps to fight it. The association utilized 67 percent of the money, that is $77 million for research, which resulted in the discovery of gene NEK1, according to New York Times. The donations helped the scientists to fund "Project MinE," which involved 11 countries and 80 researchers.
It was the funds that helped research team maintain a large archive of samples of people affected with ALS thereby, leading to this significant discovery of NEK1 gene. Now, it is being touted as an important milestone by the researchers. They have said that it is among the most common genes that lead to the disease and has been found to be responsible in 3 percent of the cases.
Researchers are of the view that NEK1 variations, in people with ALS, disable this gene, which performs many important roles in the human body. Moreover, with this breakthrough, steps can be taken in the direction of gene therapy treatment in which the faulty genes could be replaced or new ones added to fight the degenerative condition, according to Live Science.
Notably, ALS is a degenerative nerve disease that affects the ability of a person to control muscle movement, thereby, leading to an eventual breakdown of the entire nervous system. It has been found to cause death within 2 to 5 years of diagnosis as there is no cure available and very few effective treatments exist.
Till date, some 30 genes tied to the disease have already been identified and researchers say that about 1 in 400 people will be affected with ALS in their lifetime.
The following video talks about ALS, what it is, its causes and what happens after:
