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October 2011



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Top scientists team up to unravel mystery of Williams syndrome

By JoNel Aleccia Health writer
updated 10/25/2011 7:28:06 AM ET

If they had their way, Tristan and Tyler Waldner would be friends with everybody.  

The 7-year-old twins from San Diego, Calif., have Williams Syndrome, a rare genetic disorder that makes them unusually social, so outgoing and gregarious that, to them, there’s no such thing as a stranger.

At the library, on the playground, and even with surprise guests at dinner, the blond boys are charming and chatty, brimming with questions — “Where do you live? Did you drive here or fly here? Do you have kids?” — but with none of the shyness or social reserve you’d expect from typical second-graders. 

“They love to meet new people,” explained the boys’ father, Fabian Waldner, 35, who has to watch them carefully in public. “We’ll be in a grocery store and they’ll just say ‘Hi’ to anybody who walks by.”

Researchers have puzzled over that extreme friendliness for decades, pondering the causes and complicated traits that go with the syndrome that affects 1 in every 10,000 people, says Ursula Bellugi, a researcher at the Salk Institute in La Jolla, Calif., who has studied the disorder for a quarter-century.

They’ve come to believe that Williams syndrome, which is characterized by unique genetic markers and distinct behaviors, may actually hold the secrets to understanding other better-known disorders — including autism.

‘Brink of a whole new world’

“We’re on the brink of a whole new world,” says Bellugi, 80, a professor and director of Salk’s Laboratory for Cognitive Neuroscience.

Now, thanks to a $5.5 million grant from the National Institute of Child Health and Human Development, Bellugi and team of prominent scientists are poised to use Williams syndrome to decode the ties between human genes and the way people act. 

“We want to know: Are there links across the levels from the genes to behavior?” said Bellugi, who is leading a five-project program.

The aim is understand better how genes affect traits as vastly different as the super-social behavior of the Waldner boys and the withdrawn, alienated behavior of many people with autism.

“Even though Williams’ behavior is the opposite of autism, it may be influenced by gene activities that push it in a different way through a common process,” explained Ralph J. Greenspan, associate director for the Kavli Institute for Brain and Mind at the University of California at San Diego, who has joined the project.

Top scientists in fields as diverse as stem cell biology, brain neuroimaging, brain architecture and social cognition agreed to combine forces to investigate the ties between Williams syndrome genes and behavior. Using separate but related experiments, they’ll examine cells from Williams patients, detailed images of their brains and analysis of their behavior to see how they all fit together.

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