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genetics

A better genetic test for autism

by Melissa Jeltsen on March 15, 2010

Very high-resolution microarrays such as this one, capable of spotting very small missing or extra pieces of DNA, have only become available within the past few years. Image courtesy of Agilent Technologies.

Very high-resolution microarrays such as this one, capable of spotting very small missing or extra pieces of DNA, have only become available within the past few years. Image courtesy of Agilent Technologies.

The cause of autism spectrum disorders (ASDs), the fastest growing developmental disability in the United States, is still a big mystery. While there’s clearly a genetic component, only 15 percent of people with autism have a known genetic cause. But researchers believe that a much larger percentage of autism can be chalked up to genetics. Now, Children’s Hospital Boston and Autism Consortium researchers have shown that a new genetic test, which samples the whole genome, may work three times better than standard tests.

Families expecting a child who have a family member with an ASD sometimes seek genetic testing to determine whether their baby is at risk.  In a child who’s already affected, genetic testing can explain why the child has autism and let the parents know how likely it is that other children in the family could inherit the genetic risk for autism. Full story »

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Stimulus funding could help crack autism’s genetics

by Nancy Fliesler on October 1, 2009

A typical readout of data from "next generation" DNA sequencing, used by Walsh's lab in autism patients. The sequencer samples a patient's DNA in tens of millions short, overlapping bites -- a few dozen letters of code -- then strings these together to build the whole sequence.

A typical readout of data from "next generation" DNA sequencing, used by Walsh's lab in autism patients. The sequencer samples a patient's DNA in tens of millions short, overlapping bites -- a few dozen letters of code -- then strings these together to build the whole sequence.

Yesterday the White House announced $5 billion in stimulus funding for groundbreaking medical research. One very exciting project aims to (finally) get at the many genetic causes of autism through whole-genome sequencing, and it’s happening here at Children’s. The $4.5 million project, supported by the National Institute of Mental Health, will be led by Christopher Walsh, MD, PhD, chief of Children’s Division of Genetics, with collaborators at Harvard Medical School and the Broad Institute. Full story »

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