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New autism genes found
Links embedded in the article can be found at link.Researchers have identified dozens of genes that inrease the risk of an individual getting autism, according to a new study published in the journal Nature. Genetic data were collected from 1,000 people with autism spectrum disorder and 1,300 from individuals without ASD. Researchers found those with autism had more genetic insertions and deletions--called copy number variants or CNV--in their genome than those who did not have the disorder. Some of the variants seemed to be inherited while others appeared to be new, meaning they were found only in the affected children, but not their parents. "Identifying these copy number variants in young children at risk of autism will help us to implement earlier treatment," said Louise Gallagher, Trinity College, Dublin and a study co-author. "Currently autism diagnosis is entirely behavioral and lengthy. Some children are not getting a diagnosis until as late as 5 years old. With earlier detection these children could get earlier intervention which may limit the severity of the condition particularly their co-morbid difficulties." Researchers believe these discoveries could lead to the development of new therapies. "Piece by piece, we are discovering genetic mutations that can cause autism. These findings will provide answers for families about what contributed to their autism," said Andy Shih Ph.D, Autism Speaks vice president for scientific affairs. "Furthermore, as we have learned from examples involving other genetic risk factors of autism (e.g., Fragile X, Rett, TSC), these genetic findings help us understand the underlying biology of autism, which can lead to the development of novel treatments." Autism Speaks, the country's largest autism advocacy organization, invested $9 million in the study. "The exciting thing about the findings of this study is that they point to specific biochemical pathways and targets for drug discovery and these findings bring hope to many families who struggle with autism every day," said Geraldine Dawson, chief scientist at Autism Speaks and a study co-author. "What is critical now is to translate these basic biological findings into clinical tools for early detection and treatment. We are now developing behavioral interventions for infants and toddlers who are at risk for autism so these findings will allow early detection that can provide children with interventions as early as possible." Steve Scherer, one of the researchers in the study says the results will lead to a paradigm shift when it comes to our understanding of the root causes of autism. "Our research findings point to the fact that the genetic variations that we discovered are actually rare in frequency meaning most individuals with autism are probably genetically unique each having their own genetic form of autism. Now that we know there are numerous genes involved in autism, another very very important finding of the study is we are actually able to tie these genes together in the same biological pathways or networks and they seem to be involved in how the brain functions. Knowing these autism genes are linked we can begin to develop rationally derived therapies to target the common pathways involved for the very first time." The Autism Genome Project is currently analyzing another 1,500 families. Organizers want to start the next generation sequencing of the whole genome--searching for new mutations to try to finish the puzzle that is autism. According to the Centers for Disease Control and Prevention, (http://www.cdc.gov/ncbddd/autism/data.html) an estimated one in 110 children in the U.S. have autism spectrum disorders. Boys are four to five times more likely to be diagnosed as girls. The causes may vary and include biologic, genetic and environmental factors, there is no known cure. Posted by: gorb 2010-06-10 |
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