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Link found between Autism and Genetics
Posted: 2010-06-11 | Author: Autism News
Autism Genome Project identifies a link between autism and genetics
In the largest study ever by the Autism Genome Project into the genetics of autism, researchers have identified genetic variations that are more common in children with the condition, raising hopes of earlier diagnosis and better treatments
Scientists today say they are on track to establish the genetic triggers for autism, paving the way for earlier diagnosis of children who could be at risk of developing the condition and opening up the possibility of inventing new drugs and treatments for the condition.
The identification of a range of rare genetic mutations by an international collaboration known as the Autism Genome Project, involving scientists in the USA, Canada and Europe, will further undermine the arguments of those who have claimed that the MMR vaccine, against measles, mumps and rubella, is somehow to blame.
Geri Dawson of Autism Speaks, a charity that helped to fund the research, said that the findings would bring hope to many families who struggle with autism on a daily basis. "What is critical now is to translate these basic biological findings into clinical tools for early detection and treatment." This would allow children to be helped earlier in life. "We're now developing behavioural interventions for infants and toddlers who are at risk for autism," he said.
In the study scientists identified rare genetic variations that were 20% more frequent in children with autism than in children without the disorder. These so-called "copy number variations" (CNVs), which can be missing chunks of DNA or extra copies of sequences in and around genes, occur in less than one in 100 people in the general population.
Scientists compared the incidence of these rare CNVs in 996 people with autism spectrum disorders and in 1,287 unaffected people, all with European ancestry. The results, published today in Nature, showed that some of the CNVs were inherited while others were found in children but not in their parents.
Stephen Scherer of the Hospital for Sick Children in Toronto, Canada, said that the research would lead to a paradigm shift in assessing the causes of autism. "Most people in the field believed that autistic individuals shared common genetic variations in just a few genes," he said. But the research suggests the genetic variations are actually rare. "Most people with autism are probably genetically quite unique, each having their own genetic form of autism. As we discover more of these variants, the number of cases of autism that we can explain increases substantially."
Identifying the genetic causes means that doctors could develop tests for babies who may be considered at risk of autism based on their family history. "Currently, autism diagnosis is entirely behavioural and lengthy and parents are subjected to a long process where their child is being assessed," said Louise Gallagher of Trinity College Dublin. "Some children are not getting the diagnosis until as late as five years old. With earlier detection, these children could get earlier interventions, which may limit the severity of the condition."
Discovery of a major genetic underpinning for autism will help further allay parents' fears of a sinister environmental cause. The work will also underpin a better understanding of the physiological basis for autism. The risk genes identified in the latest studies are involved in brain functions and knowing what their altered effects are will give scientists targets for therapies. Rare CNVs are also known to play a role in other learning disabilities and in mental health conditions such as epilepsy and schizophrenia.
But Dr Gina Gomez de la Cuesta of The National Autistic Society is more cautious.
She says: "This study furthers our understanding of genetic variation in autism, however there is a great deal more research to be done. Research into autism is constantly evolving but the exact causes are as yet still unknown. The difficulty of establishing gene involvement is compounded by the interaction of genes with the environment. 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."