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Neurodevelopmental modelof Williams syndromeoffers insight into human social brain

Rare genetic condition produces individuals with extremely sociable personalities but research may also shed light on biology and behavior of persons with autism and other social disorders.

In an August 2016 Nature paper spanning molecular genetics, stem cells and the sciences of brain and behavior, researchers at the University of California, San Diego and the Salk Institute have created a neurodevelopmental model of a rare genetic disorder that may provide new insights into the underlying neurobiology of the human social brain. The disorder, called Williams syndrome (WS), is a rare genetic condition caused by deletion of one copy of 25 contiguous genes on chromosome 7, out of an estimated 30,000 genes in the brain. WS affects one in 10,000 people worldwide and an estimated 20,000 Americans. WS results in developmental delays, yet relative strengths in language use and face processing that result in a hypersocial predisposition. The labs of Ursula Bellugi and Rusty Gage in conjunction with UCSD were able to directly observe the behavior of cells with the genetic profile of WS. The cross disciplinary research not only suggests potential new treatments for this behavioral syndrome but could also help scientists to better understand the fundamental biological processes underlying social interactions.

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