Friday, March 30, 2007

New study on Autism Spectrum Disorder released

Cold Spring Harbor Laboratory (CSHL) scientists Jonathan Sebat, Lakshmi Muthuswamy, and Michael Wigler have found a distinction between heritable and “sporadic” forms of the autism. It is thought that the study, published in the March 16th, 2007 edition of Science, may influence future autism research and testing. "We found that many children with autism have spontaneous mutations in their DNA. This occurs more often in the sporadic cases than in either familial cases or in healthy children," said Sebat. The study indicates that at least 10 percent of children with autism carry an alteration in their DNA that is not found in either parent. Most genetic studies on autism, the CSHL researchers say, have focused on families with multiple autistic children. "Our findings suggest that sporadic autism is genetically distinct from the type that runs in families, and that we must use different approaches for studying them," Sebat said. "Sporadic autism is the more common form of the disease, and even the inherited form might derive from a mutation that occurred in a parent or grandparent," said Wigler. The researchers used microarray technology – a high-resolution method for analyzing DNA – and found that spontaneous copy number mutations occur primarily in sporadic cases. Their findings were that these new mutations were found less frequently in families that have more than one child with autism. The findings could help to determine the risk of having a second child with autism, and the knowledge of which genes are involved may lead to the development of new therapies. "This work received the vast bulk of its funding from the Simons Foundation, which generously supported the research when it was little more than an idea and a technique," Wigler said. Supporters of the research included the Simons Foundation, the National Institute of Mental Health, Autism Speaks, Cure Autism Now, and the Southwestern Autism Research and Resource Center. "This discovery sets a new framework for understanding, diagnosing and potentially treating autism," said CSHL President Bruce Stillman. CSHL is pursuing a $200 million capital campaign to fund such ventures as the construction of new research facilities dedicated to the study of autism.