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Researchers: New understanding of autism is near

Connor, 12, and his bother Bryan Murdock-Gould,16, pose with their parents Lauretta and David Murdock-Gould at their home in Port Washington on Friday, August 03, 2007. (Newsday/Ana P. Gutierrez / August 3, 2007)

BY DELTHIA RICKS | delthia.ricks@newsday.com

August 14, 2007

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Attorney David Gould and his wife, Lauretta Murdock, the founder of a school in New Hyde Park, were not prepared for the phone call they recently received.

It was from a neighbor, someone they had never met. The caller was frightened. The Gould's 16-year-old son, Bryan, had casually entered the neighbor's house through an unlocked door, startling the home's occupants.

"We were so lucky. God were we lucky," said Gould, of Port Washington. Bryan was oblivious to the panic. At a time when home invasions are in the public consciousness - and homeowners might be armed - Gould feels fortunate his neighbors sensed something different about Bryan and were able to coax him to give them his home phone number.

The teen is autistic, as is his 12-year-old brother, Connor.

Yet, the Gould/Murdock household is not atypical. Families nationwide are facing the realities of autism, and sometimes with more than one child. Murdock is one of Long Island's leading experts on the condition, having established Mosaic, a New Hyde Park school for autistic children.

No longer rare

Once considered rare, autism now affects one in every 150 children in the United States, according to statistics from the federal Centers for Disease Control and Prevention. Advocacy groups call it an epidemic with an end nowhere in sight.

While many parents of autistic children - Murdock included - suspect thimerosal, a mercury-based preservative used in routine childhood vaccines as the disorder's cause, most scientists suspect it lurks in the human genome, etched unmistakably in the DNA. Although thimerosal has been removed from most routine vaccines, it still exists in trace amounts in a few, according to the U.S. Food and Drug Administration.

"Since our sons were diagnosed we've never had a vacation. I can't remember when either of us has gotten more than five hours of sleep. It's exhausting," said Gould, who maintains a diary of his sons' journeys through childhood. "Both parents are on board 24 hours a day but it most often falls on the mothers. I see what my wife goes through and it breaks my heart."

As Gould and Murdock worry about their sons, molecular geneticist Michael Wigler, a few miles away at Cold Spring Harbor Laboratory, believes he and his colleagues are on the cusp of understanding why autism occurs and how some families can be affected more than once. Wigler and his team have discovered how certain spontaneous genetic mutations are relatively common and how they can be passed on by very healthy parents to their offspring. Frequencies of the mutations increase, the team found, as people age.

Last month, the Cold Spring Harbor team developed a grand unification theory that stitched together previous notions about the genetics of autism and demonstrated how DNA variants - often transmitted from mothers to sons but not exclusively so - may lie at the disorder's roots. Boys are three times more likely than girls to develop autism, Wigler said.

He's calling on the CDC to use laboratory techniques similar to the ones he and his Cold Spring Harbor collaborators have developed to assess the prevalence of autism-related mutations in the U.S. population. Screening would help provide guidance on the rate of autism's growth in the population, he said.

Seeking genetic clues

Autism is a relatively new area of research for Wigler at the renowned Cold Spring Harbor lab, where Nobel Prize winner James Watson, one of the discoverers of DNA's helical structure, is chancellor. For nearly three decades, Wigler explored the inner sanctum of cancer cells in a series of studies that helped reveal some of the secrets about life itself. Since 2003, he and his team have been studying autism, a neurodevelopmental disorder, using the same kind of technology that helped illuminate the genetics of cancer.

"I had been doing cancer research since I came to the lab in 1977 and the basic method that we used in cancer was to ask what's different about the genome of cancer compared with the normal genome?

"Many of the tools to do that were developed by me," Wigler said, "so we turned to those tools to ask questions about autism."

Since the 1940s scientists have been trying to understand the complexities of autism, a brain disorder that begins in early childhood and can range from mild to severe. Some people with the condition may have an absence of language skills while others go on to earn college degrees. The disorder is marked by poor social interaction, obsessive-compulsive behavior and avoidance of affection and love.

Many who are severely affected never develop the skills of daily living. Bryan Gould is considered high-functioning, yet he still wandered into his neighbor's house uninvited. Experts now use the term autism spectrum disorders to define the many ways in which the disorder manifests.

Wigler's hunt for autism-related genes is fueled by a $13.7 million grant from James Simons, the Long Island billionaire who heads Renaissance Technologies Corp., the East Setauket enterprise that is one of the world's most successful hedge funds.

Simons, a former chairman of Stony Brook University's math department, has more than a philanthropic interest in autism. His daughter, Audrey, has Asperger's syndrome, one of several autism spectrum disorders.