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Saturday, August 19, 2006

A Massive Search for Autism Genes Begins

Continued from page 1

By Emily Singer

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The new study will use a chip developed by Affymetrix, a DNA-analysis company based in Santa Clara, CA, that searches for 500,000 specific genetic variations, or SNPs (single nucleotide polymorphisms), in a single experiment. Scientists will analyze the DNA of 3,700 autistic people and their families for SNPs that appear more frequently in those with the disorder, compared with nonaffected participants in the study.

Because the chip detects so many SNPs, almost every one can be traced to a location near or within a specific gene in the genome. "Each hit can get you right to the gene of interest," says Tanzi. "That's really a quantum leap forward, like going from Little League to the major leagues."

As soon as the researchers find a candidate list of genes, which they think could happen in as little as six months, they will make the data publicly available, allowing other scientists to study the genes and their role in autism. Experts expect the project to point toward genes and pathways no one has ever considered in autism -- pathways that, in fact, might lie at the root of the disorder.

Indeed, studies using advanced DNA chips have uncovered surprising causes of other diseases. According to Daly, a similar study of age-related macular degeneration (the leading cause of blindness in people older than 55 in the United States) highlighted genes involved in the function of the immune system rather than genes specific to the eyes or brain. "The genetics led us to a biological pathway that people had not been focused on," says Daly. "It gives a foundation that allows the research community to focus on what's really causal, rather than simply an effect of the disease."

Other planned or ongoing studies that use the new Affymetrix chip, which went on the market last September, are targeting disorders including diabetes, obesity, and Alzheimer's disease. Tanzi has already completed initial analysis in Alzheimer's patients and expects to have a list of candidate genes in a month.

So will these gene chips finally force complex genetic diseases to surrender to DNA analysis? "I'm very confident we're going to find genes associated with complex disorders," says Daly. "I'm equally confident we won't find all of them, maybe not even a majority. But for neuropsychiatric disorders, such as autism or schizophrenia, where we don't know any of the genes or have any insight into the causal basis of the disorder, uncovering even a single gene could be transforming."

For those facing the daily mysteries of a disease like autism, that is welcome news. "This is really on the cutting edge of technology," says Andy Shih, chief scientific officer at Autism Speaks, an advocacy group based in New York City. "The fact that people are willing to apply this technology to autism is exciting."

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Comments

  • Or not.
    Monsterboy on 08/21/2006 at 2:03 AM
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    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.
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    • Perhaps you dont understand
      reysa on 08/21/2006 at 11:13 AM
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      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.
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      • I understood, but...
        Monsterboy on 08/21/2006 at 12:44 PM
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        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
  • Cortical organization and the HAR1F
    bassmang5 on 08/21/2006 at 12:49 PM
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    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.
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  • Human Genome Project
    brunascle on 08/21/2006 at 3:55 PM
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    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.
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  • Exceptions to the Rule
    jbarry315 on 10/23/2006 at 9:47 PM
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      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....
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