In Largest ALS Exome Sequencing Study Ever, International ALS Consortium Identifies Gene (TBK1) Newly Associated with Sporadic ALS; Shines Spotlight on Inflammation and Autophagy Pathways

Using advanced DNA sequencing methods, researchers have identified a new gene that is associated with sporadic, as opposed to familial, amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease. ALS is a devastating neurodegenerative disorder that results in the loss of all voluntary movement and is fatal in the majority of cases. The next-generation genetic sequencing of the exomes (protein-coding portions) of 2,874 ALS patients and 6,405 controls represents the largest number of ALS patients to have been sequenced in a single study to date. Though much is known about the genetic underpinnings of familial ALS, only a handful of genes have been definitively linked to sporadic ALS, which accounts for approximately 90 percent of all ALS cases. The newly associated gene, called TBK1, plays a key role at the intersection of two essential cellular pathways: inflammation (a reaction to injury or infection) and autophagy (a cellular process involved in the removal of damaged cellular components). The new study, conducted by an international ALS consortium that includes scientists and clinicians from Columbia University Medical Center (CUMC), Biogen Idec, and the HudsonAlpha Institute for Biotechnology, was published online on February 19, 2015 in Science. [BioQuick Editor’s Note: It is perhaps fitting that this major advance in the understanding of Lou Gehrig’s disease (ALS) was achieved, in part, by scientists and clinicians from Columbia, as the great Gehrig himself, a New York City native, attended and played baseball at Columbia before leaving as a junior and heading on to baseball immortality with the New York Yankees. See “Lou Gehrig: Columbia Legend and American Hero” on the web (]
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