Pouring Ice Over Your Head Leads to Gene Discovery for ALS

Originally posted @ allaboutestates.ca

Hot enough for you?  Perhaps pouring a bucket of ice cold water over your head is just what you need! Well fortunately for many, those that did participate in the 2014 Ice Bucket Challenge raised over $16 million dollars for research into ALS.

The great news is that this money was used for research and funded the largest study of inherited ALS, amyotrophic lateral sclerosis or Lou Gehrig’s disease, as it is commonly known. This newly identified gene, called NEK1, is one of the most common genes that contribute to ALS. The University of Massachusetts Medical School summarized it as: “Variations in a gene with multiple functions in neurons are present in approximately 3 percent of all cases of ALS in North American and European populations, both sporadic and familial, making it one of the most common genetic causes of the disease, according to a new article.”

This news is of particular interest to me as I am working with a 42 year old gentleman with ALS who no longer feels that life is worth living. While there is no known cure, the article indicates that the identification of this gene is important for therapy development.

As summarized in Science Daily (ibid): “ALS (amyotrophic lateral sclerosis) is a progressive neurodegenerative disease that affects neurons in the brain and the spinal cord. Eventually, people with ALS lose the ability to initiate and control muscle movement, which often leads to total paralysis and death within two to five years of diagnosis. While 10 percent of ALS is familial, meaning it’s genetic, the other 90 percent of ALS cases are considered sporadic, or without a family history. However, it’s very likely that genetics contribute, directly or indirectly, to a much larger percentage of ALS cases.”

For more information about ALS, please contact www.als.ca

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