genetics

Extra copies of the SMN1 gene (the gene that is deleted or mutated in spinal muscular atrophy) correlate with a higher risk of sporadic ALS

Posted on Friday, February 10, 2012 - 17:21, By: Amy Madsen
Duplications (extra copies) of the SMN1 gene are a "major" risk factor for developing sporadic (noninherited) ALS (amyotrophic lateral sclerosis), a team of scientists based in the Netherlands and United Kingdom has reported.

What do they mean, and why do they matter?

Posted on Sunday, January 1, 2012 - 12:00, By: Amy Madsen
One of the first things that comes with a diagnosis of ALS is the determination of which “form” a person has: familial or sporadic. Sometimes it appears obvious. If there’s a known history of the disease “running in the family,” then the person is said to have familial, or inherited, ALS. If the...

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