Genetics and autism: One study, one story

Two Boston-linked stories today on the genetics of Autism.

ss sciFrom the Scientist Last year a team of Australian scientists claimed to have developed a genetic test that predicts risk for autism spectrum disorder (ASD) with “72 percent accuracy.”y night at a Boston fundraiser in support of his research into the functioning of brain synapses in autism

The Scientists reports that they said the test  “may provide a tool for screening at birth or during infancy to provide an index of at-risk status.”

But a new study, led by Benjamin Neale from Massachusetts General Hospital, suggests that those claims were overblown. Neale’s team replicated the Australian group’s research in a larger sample, and found that the proposed panel of markers did not accurately predict ASDs.

“The claims in the original manuscript were quite bold. If they were true, it really would have been quite a major advance for the field, with serious ramifications for patients and other risk populations,” said Neale. “I think it’s important to ensure that this kind of work is of the highest quality.”

More here from SciBlogger Emily Willingham. 

And, this from WBUR

BOSTON — For Timmy and Stuart Supple, a pool is one of the best places to be. That’s where their mother thought the boys, who are 8 and 10 years old and severely autistic, would be the most calm and least stressed for a very important introduction.

“We, we, we go see the doctor?” 10-year-old Stuart asked his mother.

His mother, Kate Supple, tells him the man standing in front of him by the pool is the doctor. Dr. Thomas Sudhof has never met the boys, but he wants to see their autism unchecked.

Sudhof isn’t a pediatrician or one of the myriad of therapists trying to get into their world and bring them out. The Stanford University neuroscientist — who this year shared the Nobel Prize in medicine for his decades of study into how brain cells communicate — has been studying Tommy and Stuart’s genes, specifically an alteration in one gene, for five years. The Supples hosted Sudhof Wednesda

From the Scientist Last year a team of Australian scientists claimed to have developed a genetic test that predicts risk for autism spectrum disorder (ASD) with “72 percent accuracy.”y night at a Boston fundraiser in support of his research into the functioning of brain synapses in autism

The Scientists reports that they said the test  “may provide a tool for screening at birth or during infancy to provide an index of at-risk status.”

But a new study, led by Benjamin Neale from Massachusetts General Hospital, suggests that those claims were overblown. Neale’s team replicated the Australian group’s research in a larger sample, and found that the proposed panel of markers did not accurately predict ASDs.

“The claims in the original manuscript were quite bold. If they were true, it really would have been quite a major advance for the field, with serious ramifications for patients and other risk populations,” said Neale. “I think it’s important to ensure that this kind of work is of the highest quality.”

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