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NIH awards Salk Institute $5.5 million grant to study Williams syndrome

Embracable Me

Embraceable is a feature documentary film about Williams syndrome. The film explores the lives of people living with this rare genetic abnormality, displaying their inherent beauty, charm and talents. Ursula Bellugi, professor and director of the Salk Institute's Laboratory for Cognitive Neuroscience is interviewed in the film and serves as the scientific director.

Ursula Bellugi, professor and director of the Salk Laboratory for Cognitive Neuroscience, is heading a multi-institutional team that has been awarded a $5.5 million program project grant by the National Institute of Child Health and Human Development (NICHD) to link social behavior to its underlying neurobiological and molecular genetic basis, using Williams syndrome as a model.

"How the brain processes social information and integrates it with other forms of perception and learning is one of the major frontiers in neuroscience," says Bellugi. "Using Williams syndrome as the basis for a new approach to social neuroscience is exciting and promising, in part because its genetic basis is clearly understood, and it is associated with a very specific pattern of cognitive strengths and weaknesses and some puzzling paradoxes."

The current grant is the latest chapter in a unique and exceptionally successful scientific alliance. Led by Bellugi, a team of researchers that includes Salk scientists Fred Gage and Terry Sejnowski and collaborators at UC San Diego and the University of Utah, working in such disparate fields as social cognition, stem cell biology, neuronal architecture and neuroimaging, are looking to Williams syndrome to provide clues to some of the mysteries of the genetic basis of social behavior.

Williams syndrome arises from a faulty recombination event during the development of sperm or egg cells. To children with Williams syndrome, people are much more comprehensible than inanimate objects. Despite myriad health problems and generally low IQs, they are extremely gregarious, irresistibly drawn to strangers and insist on making eye contact. They are confounded by the visual world around them, however: when asked to draw a bicycle, they will show all the parts but strew them randomly across the page. It is this strange mix of mental peaks and valleys that Bellugi and her collaborators hope will allow them to untangle the connections between genes and social behavior.

"Understanding the mechanisms and pathways underlying the organization of human social behavior is important in a wide variety of mental disorders," Bellugi says. "By dissecting Williams syndrome, we hope to gain new insight into other neurodevelopmental disorders such as autism."