In 2014, The Ice Bucket Challenge took crowdfunding and social media by storm. Today, two years later, research funded by money raised in that challenge has shed new light on a novel genetic component to the progressive, debilitating neurological disease Amyotrophic Lateral Sclerosis (ALS).
Amyotrophic Lateral Sclerosis, also known as Motor Neurone Disease or Lou Gehrig’s disease, is a progressive, debilitating neurological disease that causes people to lose control over their muscles. Scientists have long known ALS consists of a genetic component, as 10% of ALS cases are from familial inheritance. The remaining 90% however, is considered sporadic though genes have still been suspect. This newest research supports that theory.
A New Genetic Lead
Researchers announced that the gene NEK1 was found to contain a mutation in 3% of all ALS patients, regardless of a familial or sporadic diagnosis.
The NEK1 locus has been implicated in a wide variety of neuronal activities from mitochondrial membranes to maintaining neurotubule that support neuronal shape.
The Ice Bucket Challenge raised the funds necessary to sequence the exomes – the coding portion of DNA- of thousands of ALS patients which had been collected previously but not processed due to cost. The ALS Association joined forces with MinE, a mass genome sequencing start-up, to study this untapped resource. Though the cost of DNA sequencing has gone down in the decades since the Human Genome Project, it still costs an estimated $1000 to process each genome.
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The Challenge involved participants dumping bucket filled with water and ice over their heads within twenty-four hours of being challenged by another participant or, to avoid and icy soaking, donate to ALS Association (Motor Neurone Diseasee Association in the UK).
Many ice-bucketer’s both accepted the challenge, as well as donated. The challenge included some hilarious dunks including numerous athletes, and notable celebrities such as George Takei.
The 2016 Challenge launched August 1st.
Additional Sources: Science Daily
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