Genetics of Semantic Cognition

We all occasionally experience the “tip of the tongue” effect - where you know what you want to say, but you just can’t bring the specific word to mind. In 2012, Josie Briscoe and colleagues published the fascintating story of the JR Family, an extended pedigree where a large number of relatives experienced an extreme form of this phenomenon.

In the years since, DNA samples were collected for several family members, and we are now in the process of identifying genetic variants that might underlie the condition. I presented the preliminary analyses at the American Society for Human Genetics meeting in Vancouver, Canada in October 2016. The project is ongoing.

References

Briscoe, J., Chilvers, R., Baldeweg, T. & Skuse, D. A specific cognitive deficit within semantic cognition across a multi-generational family. Proc Royal Soc Lond B Biological Sci 279, 3652–3661 (2012).