Professor and Director
Laboratory for Cognitive Neuroscience
Salk Founders' Chair
Ursula Bellugi, a professor and director of the Laboratory for Cognitive Neuroscience, is a pioneer in the study of the biological foundation of language. She is regarded as the founder of the neurobiology of American Sign Language, because her work was the first to show it is a true language, complete with grammar and syntax, and is processed by many of the same parts of the brain that process spoken language. Her work has led to the discovery that the left hemisphere of the human brain becomes specialized for languages, whether spoken or signed, a striking demonstration of neuronal plasticity.
Constantly seeking new avenues for understanding the ties between neural and cognitive functions, Bellugi is currently studying individuals with Williams Syndrome. This puzzling genetically based disorder leaves language, facial recognition and social skills remarkably well-preserved in contrast to severe inadequacy in other cognitive aptitudes. The search for the underlying biological basis for this disorder is providing new opportunities for understanding how brain structure and function relate to cognitive capabilities.
"Williams syndrome is a perfect example where a genetic predisposition interacts with the environment to sculpt the brain in unique ways. It provides a unique window of understanding for how missing genes and the resulting changes in brain structure and function ultimately shape behavior."
To children with Williams syndrome, people are much more comprehensible than inanimate objects. Despite myriad health problems, generally low IQs and high levels of anxiety, they are extremely gregarious and irresistibly drawn to strangers, and they insist on making eye contact. This strange mix of mental peaks and valleys allows Ursula Bellugi and her collaborators to untangle the connections between genes, brain function and prosocial behavior.
In 2011, Bellugi and her collaborators, including Salk professors Fred Gage and Terrence Sejnowski and Salk adjunct professor Julie Korenberg, were awarded a renewal of an NIH program project grant to link the unusual prosocial behavior typified by the condition to its underlying neurobiological and molecular genetic basis. The researchers work in such disparate fields as social cognition, molecular genetics, stem cell biology, neuronal architecture and neuroimaging and are tackling the disorder from several directions.
Williams syndrome is caused by the absence of a tiny set of genes on one copy of chromosome 7, presenting a strong relationship between genes and altered behaviors. Virtually everyone with Williams syndrome is missing the same genes, but some rare individuals retain one or more genes that most people with the condition have lost, providing clues to the function of those genes and gene networks.
Bellugi and her colleagues are charting how these genetic aberrations may lead to the unusual cognitive and social behaviors characteristic of Williams syndrome. This includes using imaging technologies to visualize how the gene deletions alter brain activity, mapping the neural circuits affected by the disorder, and using stem cell reprogramming techniques to study the cellular aspects of the syndrome in the laboratory with neurons derived from patients' skin cells. Recently, her team reported that the system that regulates two hormones associated with emotions, oxytocin and vasopressin, appears to be altered in people with Williams syndrome. This link between genes, hormones and behavior is an unprecedented opportunity to study how genes influence social behaviors and their role in Williams and other mental disorders, such as autism and anxiety. Understanding Williams syndrome also may provide fundamental insights into the genetic mechanisms and neural circuits responsible for human social behavior.
Left to right:
Yvonne Searcy, Dop Nguyen, Davide Crivelli, Ben Dering, Patricia Fillet, Philip Lai, Lucia Chen, Ursula Bellugi, Wenny Wong, Cindy O'Grady, Minh Nguyen, Michelle Dewitt, Connor Batch, Andy Arnold
Salk News Releases
"Trust" hormone oxytocin found at heart of rare genetic disorder
June 22, 2012
NIH awards Salk Institute $5.5 million grant to study Williams syndrome
May 20, 2011
Language as a window into sociability
August 13, 2010
The gregarious gene?
February 9, 2009
Three Salk scientists named 2007 AAAS Fellows
November 5, 2007
Salk scientist Ursula Bellugi elected to National Academy of Sciences
May 2, 2007
Beyond nature vs. nurture: Williams syndrome across cultures
January 25, 2007
Williams syndrome, the brain, and music
October 4, 2006
Are There "Social Behavior" Genes?
August 20, 2003
Awards and Honors
- Member, National Academy of Sciences, 2008
- Prize in Neuronal Plasticity from IPSEN Foundation
- Fellow of the American Association for the Advancement of Science
- Two MERIT awards from NICHD
- Jacob Javitz Neuroscience Investigator Award from NIDCD
- Distinguished Scientific Contribution Award, American Psychological Association
- Woman of the Decade Award
- Honorary Degree, Doctor of Science, Gallaudet University, Washington, DC
- Member, Advisory Council to NIDCD