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Geneticists Discover Gene Mutation Link To Autism

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From the Daily Telegraph :


By Richard Alleyne, Science Correspondent

Published: 8:00PM BST 09 Jun 2010


Dozens of rogue genes have been found in more than 1,000 children suffering from autism, researchers found.


They said the findings come closer to helping identify the root cause of the disability that affects more than half a million people in Britain - and could hasten the development of the first ever genetic test for the condition.


The research, conducted by around 60 teams of experts from 12 countries including the UK and Republic of Ireland, identified clusters of genetic mutations or changes that were almost 20 per cent more common in autistic children than in unaffected individuals.


Professor Tony Monaco, a geneticist at Oxford University, said: "By identifying the genetic causes of autism we hope in the future to be able to improve the diagnosis and treatment of this condition which can affect children and their families so severely.


"Just knowing about these genetic changes can help the families involved come to terms with why their child has autism, but it can also be important where there are siblings too in determining future risk."


People with autism have problems with social interaction, poor communication and developing friendships. It affects about 588,000 people in the UK.


The latest research, published in the journal Nature, is the second stage of the Autism Genome Project, which has spent millions of pounds trying to identify the genetic causes of the condition.

It has found whole chunks of DNA are lost or duplicated in affected children which the researchers are sure are at least partly responsible for the condition.


Researchers have also identified "rogue" genes related to brain development which appear to be more common in those with autism.

The research may fill in a number of pieces in the complex genetic "jigsaw" that underpins the disability and could lead to earlier identification of the disorder.


Eventually they hope that these variations, found in less than one per cent of the population, will provide "targets" for drug treatments and also allow "genetic tests" for children at risk of the condition.


At present, children are assessed for autism through a lengthy process involving a range of tests that explore the child's social interaction, communication and imaginative skills.


But that means some are children are not diagnosed until they are as old as five. A genetic test could eventually outline the risks within months of being born.

Early intervention with intensive therapy can greatly improve the progress of children and in some cases even alleviate all the symptoms.


There may also be some overlap between the genetic causes of autism and conditions such as epilepsy and schizophrenia. Treatments used for these conditions could be applied to autism.


"Piece by piece we are discovering genetic mutations that can cause autism," said Andy Shih, of the charity Autism Speaks that has paid £4m towards the project.

"These findings will provide answers for families about what contributed to their autism."


The British team from Oxford University, working with colleagues from Newcastle, are now planning follow-up research to see whether tests based on the findings can help diagnose autism.

The scientists have applied for funding for a pilot study which will look at further 1,000 newly diagnosed autistic children.


Professor Monaco, at the Wellcome Trust Centre for Human Genetics, said: "Our research strongly suggests that this type of rare genetic variation is important and accounts for a significant portion of the genetic basis of autism."


The new study was the largest ever conducted to search for genetic links to autism.

It set out to compare the incidence of gene variants in 996 primary school age children with autism from the US, Canada and Europe, and their parents, and 1,287 unaffected children.

The scientists analysed DNA from blood samples using advanced technology capable of scanning the whole genome.


Professor Michael Gill, one of the Irish consortium members from Trinity College Dublin, said: "With further research work, these and other recent findings have very real potential to lead to the development of novel interventions and treatments for these disorders."


Dr Gina Gomez de la Cuesta, from the National Autistic Society, said: "This study furthers our understanding of genetic variation in autism, however there is a great deal more research to be done.


"Genetic testing for autism is still a long way off, given that autism is so complex. Whilst it is very important that research continues, it is also crucial that those living with the condition have access to appropriate advice and information, as the right support at the right time can make an enormous difference to people's lives."


Dr Jenny Longmore, research director of the UK-based autism research charity Autistica, which helped fund the Autism Genome Project, said: "What it does is link up information about the genetic variations identified in people with autism and provides us with a road map towards a better understanding of the links between genetics and autism.

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