June 9th, 2010
09:29 PM ET

New autism genes found

By Saundra Young
CNN Medical Senior Producer

Researchers have identified dozens of genes that increase 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, 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.

soundoff (131 Responses)
  1. Cec

    It is very easy for people to say that the vaccines were not the cause but our faulty genes as a result of this study. And therefore, we should all rush out and get all the kids vaccinated. I will never put another vaccine into either of my two children (1 autistic and 1 neuro-typical). I may have "defective" genes but I am still not convinced that the amount of vaccines that are pumped into a child's body before the age of 1 is 100% safe. Try dealing with an autistic child 24/7 and fighting to get services and interventions and then be so blase. Not all children have been born autistic because of there parents genes, so what causes it then? These children are obviously pre-disposed to being suspectible to other environmental factors, some which we have not identified yet. I love my daughter with all my heart and will fight to the bitter end to make her the best she can be. Autism is a big part of our family life now but it will not and does not rule us. It is something we have to get on with on a day to day basis. At the end of the day I love my daughter because of who she is, not because she also is autistic. We all have to look at the children in front of us and not see the autism first.

    June 17, 2010 at 14:39 | Report abuse | Reply
  2. T Dad

    There are more than 5000 autism cases in the Ombudsman vaccine court pipe-line. The reason parents insist that the vaccines are involved is because those parents observed on-table reactions themselves. That is too strong a signal to ignore. Yet epidemiological studies and some other studies do not find a signal, but are also unable to rule out vaccines. I would actually be comforted by a strong signal indicating a genetic cause or a chemical cause. At this point, we have failed to find an alternative. Even with the press push behind this study, it represents a failure to find a genetic cause in some ways, but also a triumph in showing that there is not one genetic cause but a flotilla of different genes, many de novo mutations.

    The geographic and temporal clustering, the recent increase, the scattered "idiopathic" genetic alterations, point to an environmental teratogenic cause. That could be chemical, radiological or infectious.

    I would be so happy for it to be chemical, at this point. That would give us the most hope. A strong signal for BPA or teflon cookware would be music to my ears.

    Regardless of the cause, we have 900,000 autistic children who will begin to require services for autistic adults in the pipeline. We are not prepared for that.

    June 28, 2010 at 00:02 | Report abuse | Reply
  3. andria

    great so we know from more research that some genes are mutated in autistic children, and that some of those mutations have been inherited. but why are these genes mutating in the parents and why are additional ones mutating in the children? environmental triggers, of course. please test if bio-accumulation of the agents of vaccines from one generation to the next could be that trigger before saying it isn't the increasing number of vaccines causing increasing autism rates.

    July 22, 2010 at 12:26 | Report abuse | Reply
  4. a heart broken mother

    For those who believe that vaccines are contributing factors to Autism, I am here to tell you they are not ! I have a little girl who shows all the signs for Autism, never had any shots. This little girl was a very attentive, bright happy girl, I watched her slowly withdraw into a lala land, and here she is, she does not respond to her name nor engages eye contact. Always jumping on her tiptoes, flapping her hands and screeming. The only damage I can think of watching too much television, all parents out there, my only recommendation is refrain your small ones from watching too much television. I am so heart broken and feel helpless. I have been praying a lot as I got tired of predicting the unpredictability. I want my little girl back and hope that my prayer and everyone out there's get answered quickly.

    November 21, 2010 at 20:29 | Report abuse | Reply
    • surojit mukerji

      I agree with you to an extent that television could well be a possible cause. If television is assumed to be a likely cause, then there could be some anti radiation that could set things right. Could it be that only CRT sets cause this problem? What is your observation? Is it via CRT or even an LCD tv could damage?

      April 28, 2012 at 07:38 | Report abuse |
    • surojit mukerji

      But wait a minute... Einstein was an autistic savant. Not sure if he became autistic due to the impact of the television. I doubt, but if he did, it was the CRT that may have caused damage. I think taking them to a very natural environment can help. Away from plastic, chemicals, where the air and water are pure, and they can sleep beneath the stars, not eating food with meat in them, but rather naturally grown vegetables, not drinking canned juices but fresh fruits from the farm, not toys but pure love and affection and plenty of hugs. I think the body and mind would be in perfect harmony and would react to the treatment. I intend to try this out.

      April 28, 2012 at 07:58 | Report abuse |
  5. a heart broken mother

    Let us fight for our children, Autism is growing rapidly and it is a serious disorder, no amount of money spent to discover its causes in order to prevent from continuing is equal to losing our lovely children, our future to Autism. Let us bring this terrible disorder to an end. It is nothing more heartbreaking than your child not acknowledging your own presence. So heart breaking. I want to reach out so bad and do not know where to start or stop. I feel so helpless!

    November 21, 2010 at 20:35 | Report abuse | Reply
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