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A Massive Search for Autism Genes Begins

New gene chips could finally bring clues to this complex disorder.

By Emily Singer

Saturday, August 19, 2006

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The hunt for the genetic basis of autism may soon be closing in on its elusive target. Scientists at 11 Boston-area institutions, including MIT and the Broad Institute, will use new tools to analyze DNA samples from thousands of autistic people and their families. It is expected to be the largest search to date for the genetic causes of autism and may yield candidate genes in as little as six months.

Identifying genetic variations that increase the risk for autism could lead to new treatments for the disorder. (Credit: Istockphoto.com/mevans)

"This project will allow us to study the genome with an unprecedented level of detail," says Mark Daly, a researcher at the Broad Institute who is participating in the project. "Once we have an understanding of the genes and causal pathways underlying the disease, we can focus [on] research and development of therapeutics for those genes."

Scientists know that autism, which occurs in about one in 166 children, has a genetic component; siblings of autistic people have a much higher chance of developing the disorder than the general population. But the disease probably has a number of causes, including environmental influences and multiple genes. As with other complex genetic diseases, pinpointing the genes that increase risk has been enormously difficult.

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Previous studies have identified large regions of the genome that appear to contain genetic variations linked to autism. That region might contain hundreds of genes, however, and the limits of DNA-analysis technology have made identifying the specific culprit a challenge. In such situations, scientists usually make a guess based on the known biology of the disease. "It's very frustrating," says Rudy Tanzi, a neurologist at Harvard Medical School and a collaborator on the project. "The odds are low that you've picked the right gene."

But scientists can now scan the genome much more thoroughly using newer varieties of gene chips, tiny glass slides coated with particular sequences of DNA that can identify sequences in a sample by binding to them. The latest chips can quickly detect more DNA sequences than ever before -- hundreds of thousands of them at a time. "Now we can find diamonds among the glass," says Tanzi.

Comments

  • Or not.
    Not even just a "disorder," but a "disease". It might have been good to mention the many autistic people who do not consider themselves diseased for thinking differently, or their genes something to be wiped out of the pool.
    Rate this comment: 12345

    Monsterboy
    08/21/2006
    Posts:89
    Avg Rating:
    4/5
    • Perhaps you dont understand
      Scientists are not aiming to "wipe out" the autistic community. They want to help the families which have been hurt. They want to prevent families from being torn apart in the future. True, not all autistic children and adults are helpless and many can lead very fulfilling lives, but they deserve to have the same chance as any other child does. They deserve to learn jsut as much and be just as free and happy. A patient can always refuse treatment, but there are many who's lives are cosumed by autism. It truely can tear apart families and can steal someones happyness.

      And again, it wont for everyone. But it is not fair to deny the treatment, perhaps the cure, to those whom would benefit.
      Rate this comment: 12345

      reysa
      08/21/2006
      Posts:1
      • I understood, but...
        Oh, I understood that, reysa. And I'm not against the research. I objected specifically to the characterisation of autism as a "disease." I think you'll admit, it gives a certain slant; replace "autism" with "left-handedness" or "homosexuality" and read those sections again.
        Rate this comment: 12345

        Monsterboy
        08/21/2006
        Posts:89
        Avg Rating:
        4/5
  • Cortical organization and the HAR1F
    I found this article interesting in accordance with the "The Gene That Makes us human" artical 8/17. A problem cited by Joseph LeDoux is that abnormal cortical layering in the cerebral cortexs 6 layers is common in autism. It will be interesting what this study turns up on the HAR1F gene and the so called "homeotic genes" as well. I look forward to cross examining these two studies when this study finishes up.
    Rate this comment: 12345

    bassmang5
    08/21/2006
    Posts:7
  • Human Genome Project
    the Human Genome Project's site lists "Autism, susceptibility to" in chromosome 7: http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromo07.shtml

    it's about a third of the way down on the right.

    i'm not positive how it works or what it means, but looking through the chromosomes is actually very interesting.
    Rate this comment: 12345

    brunascle
    08/21/2006
    Posts:68
    Avg Rating:
    4/5
  • Exceptions to the Rule
      I agree to the exception being taken to the inference that the condition of autism (or Asberger's syndrome for that matter) is inherently a disease state rather than a condition.  No evidence of a degenerative condition is necessarily attributed to the incidence of this; and, it would be a great disservice to equate any condition which was determined to be the result of a causal relationship with the environment, or chemically induced, or a birth defect with that of a disease.  As far as the life quality for those suffering from such ailments, the pain is definitely there--- and no disease can be blamed for such pain.  If the research yields an avenue whereby medicine may alleviate the autistic child's intolerance to noise or change of routine, then progress will be evident on a dramatic scale.  If the general public could begin to understand the attempts at communication from these individuals, much genius would be found to exist in the inescapable tenacity of spirit such persons exhibit toward any task they are induced to undertake.  There IS a flipside for these misunderstood and isolated minds; and, if this research lends itself to effecting the release from imprisonment such potential, then perhaps my twin sons will again show the exuberance they did as toddlers--- and prove out what hope makes possible through diligence and focus---  as exceptions, rather than diseased ones....
    Rate this comment: 12345

    jbarry315
    10/23/2006
    Posts:1

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