Archives for the month of: December, 2009

On 13 May, 2008, Matthew Belmonte received a curious e-mail from Google. For more than a year, Belmonte, an assistant professor at Cornell University, and a team of student computer scientists had been designing a dynamic video game to test the social, sensory and attentional abilities of children with autism.

Belmonte had set up a website explaining the project and the game, called Astropolis, in which children act as pilots of their own spaceships. The site attracted a lot of online traffic. “We figured it would only be a matter of time before we heard from Google,” he says, joking.

Chris Cronin, the business strategist who contacted Belmonte, had a vested interest in autism: He was part of a team working on SketchUp, Google’s three-dimensional drafting software intended for architects and professional designers.

Soon after SketchUp’s release, Cronin and fellow Colorado-based business developer Tom Wyman began hearing from users that children with autism love using the software. “You hear it once, and it’s a heartwarming story. Hear it twice, and it’s a coincidence. Hear it three times, and you think, ‘Gosh, there must be something going on here’,” Wyman says.

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SFARI, December 2009.

Scientists have for the first time found direct evidence that defects in a particular type of brain receptor sometimes give rise to autism, according to research published 24 November in Molecular Psychiatry.

Gamma-aminobutyric acid (GABA) receptors control inhibitory signals that calm electrical storms in the brain. Researchers have long known that improper GABA signaling plays a role in epilepsy, and emerging evidence implicates the system in autism spectrum disorders.

A few studies have shown that common variants of the GABRB3 gene, which encodes a protein that helps build GABA receptors, are more widespread among people with autism than among healthy controls. But the new report is the first to find a rare, functional variant of GABRB3 in families with autism.

“There has been a tremendous amount of evidence linking this particular gene with autism, but it’s all considered somewhat circumstantial evidence,” says Timothy DeLorey, senior research scientist at the Molecular Research Institute in Palo Alto, California, who was not involved in the work. “This study shows a direct causal effect between this gene and autism.”

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SFARI, December 2009.

Using new genetic screening technology, a few research groups are finding that a surprisingly large number of children with autism — at least five percent — have an underlying problem with their mitochondria, the energy factories of the cell.

If confirmed by larger studies, these preliminary results point to intriguing pathways, such as those involved in calcium-ion signaling, that go awry in the subgroup of children, the researchers say.

It’s unclear, however, whether mitochondrial defects are the primary causes of the disorder.

“This contributes to this general idea that you need multiple hits in order to get autism,” notes Ricardo Dolmetsch, assistant professor of neurobiology at Stanford University School of Medicine, who was not involved in the new studies.

For example, Dolmetsch notes, one of the hits may be a defect in a mitochondrial protein that, coupled with defects in genes that control electrical excitability, or in genes that control calcium channels, leads to autism.

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SFARI, December 2009.

In 1987, Robert Getzenberg was beginning his doctorate at the Johns Hopkins School of Medicine urology department, the oldest in the country. Founded in 1915, the James Buchanan Brady Urological Institute’s historical roots seep from its every corner. Its current location boasts a cozy library showcasing the original chair and desk of the department’s founder. Exquisite medical illustrations—including the first to document prostate surgery—line the hallways. Here, under the eye of advisor Donald Coffey, a powerhouse in prostate cancer biology, the energetic young Getzenberg started hunting for distinctive molecular signatures of the disease in rat tumor tissue.

Prostate cancer biomarkers had recently become an enticing line of research. In 1986, a San Diego biotech, Hybritech, Inc., unveiled the first US Food and Drug Administration (FDA)-approved blood test for one such marker, called prostate specific antigen (PSA)—a protein that is leaked by damaged prostate cells, including cancer cells, into the blood.

But PSA was far from perfect.

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Nature Medicine, December 2009.

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