- In what is being called a research breakthrough, TBK1, a gene associated with ALS, has been discovered by an international consortium that includes Biogen Idec, Columbia University Medical Center in New York, and HudsonAlpha Institute in Alabama.
- The researchers isolated the TANK-Binding Kinase 1, or TBK1, gene using advanced DNA sequencing methods.
- The breakthrough is newsworthy because it represents the largest number of ALS patients to have been sequenced in a single study. It also represents a good example of a productive and collaborative relationship between industry and pharma that yields meaningful results.
As a company that identifies itself as the "oldest independent biotechnology company" in the world, Biogen Idec has taken a leading role in the quest to find therapies for neurologic diseases and also in the use of large-scale genetic studies.
In this study, the researchers sequenced exomes (protein-coding portions of genes) from 2,874 ALS patients and 6,405 controls. Based on their experience, it appears that TBK1 would not signal in a smaller scale study. Moreover, because TBK1 is linked to sporadic ALS, which is linked to 90% of cases and is not well understood, this discovery adds to a knowledge base that is woefully lacking. By contrast, researchers have a better understanding of familial ALS.
Next steps: The researchers will use TBK1-mutated, patient-derived, induced pluripotent embryonic cells, along with mouse cells, to screen for drug candidates.