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genes

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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stockphotopro_60686087GJQ_baby_and_doctoIt’s a sad fact that congenital heart disease, the most common group of birth defects, affects 35,000 to 40,000 U.S. infants born annually. Currently, most congenital heart defects have no known cause.

But researchers at Children’s Hospital Boston and Brigham and Women’s Hospital hope to change that. They were recently awarded a large, 6-year grant from the National Heart, Lung, and Blood Institute (NHLBI) to probe the genetic causes of congenital heart disease. The $4.19 million grant is part of the Pediatric Cardiac Genomics Consortium (PCGC), which seeks to identify genetic and epigenetic causes of human congenital heart disease and to ultimately find preventive strategies, targets for treatment, and better diagnostic and prognostic information for families.

Although a few genetic causes of congenital heart disease are already known, the researchers hope to zero in on novel, undiscovered genes. Because gene discovery research requires a high number of patient samples, a collaborative consortium such as the PCGC will aid research by allowing scientists to share patient samples, data and technology.

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