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Such testing could also predict if parents with one autistic child are at greater risk of having another; if their child's autism is linked to a spontaneous variation, they are at no greater risk than the general population. Researchers at Children's Hospital, which provides genetic testing to families, are already developing a clinical diagnostic test.
Scientists are also trying to pinpoint the specific gene or genes within this section of DNA that underlie the increased risk. Daly and his collaborators plan to sequence this region of the genome in another group of people with autism, in search of single-letter mutations that might disrupt the function of specific genes. "Genetics provides us with the only opportunity to gain insight into the biological mechanisms that underlie autism," says Daly. "We can look at individual gene discovery as a small first step in the overall path to develop treatments."
Previous studies have identified autism risk genes. However, these studies have focused on people with genetic disorders that often co-occur with autism, such as Fragile-X syndrome, complicating the role those genes play in the disorder. "Up until now, we haven't had the capacity to look at a single gene that is associated with pure autism," says Gusella.
The findings could point to additional spots in the human genome to search for autism risk genes. The variation on chromosome 16 lies within a genetic "hot spot," an area that is predisposed to undergoing structural duplications due to the architecture of the DNA, says Evan Eichler, a geneticist at the University of Washington in Seattle, who wrote an editorial accompanying the paper. "Every time we produce gametes, there's a finite probability of this region to duplicate," he says. In addition, the region has a high concentration of genes that are rapidly evolving in humans. While the significance of that finding is not yet clear, it may explain autism's status as a relatively young disease.
By creating animals with chromosomal abnormalities, they hope to learn more about how the disorders develop.
A chemical that alters chemical signaling seems to ease anxiety and other symptoms.
Compounds that show promise in mice with mutations may offer similar hope to humans.
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michael0156
1 Comment
Horrbile mistakes and generalizations
Quote from the article - "Autism spectrum disorder--or autism, as it is commonly called--refers to a group of developmental disabilities with wide-ranging language, social, and behavioral symptoms. The disorder is known to have a strong genetic influence, with up to 90 percent of cases thought to have a genetic component."
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1. Autism Spectrum Disorders (plural is correct) is a collection of several related, but seperately defined, disorders. Childhood Disintegrative Ddisorder, Asperger's Syndrome, Rett's Syndrome, Autism, and lastly Pervasive Developmental Disorder-Not Otherwise Specified. The author is apparently unaware of this differentiation or deliberately ignores it. A possible reason to lump all of the different afflictions under only one of the spectrum labels is that the referenced study's similar genetically "identified" cases were diagnostically different disorders. Whether or not that is the reason for the author's mistatement is unknown
2. Emily reports the that 2000 individuals with autism were studied. That is wrong. Only about half that number in the study had autism, the other half were controls. Some of the controls also had the "spontaneous genetic deletions", but did not have autism. Emily leaves that info out, while erroneously reporting TWICE the number of autistic subjects in the study.
3. Her reporting that "up to 90%" of autism has a genetic component is simply an uninformed statement or a deliberate deception. No text or reputable study makes such a claim. No one knows the cause of autism.
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Another quote "The DISORDER is known to have a strong genetic influence". Again the author refers to multiple disorders as if they are one AND makes a statement of fact about a strong genetic influence that is NOT known to exist, and is actually the point the referenced study is trying to gather information about. The author seems bent on proving a point by merely stating that it's a fact.
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I have been unable to find the author's Bai-Lin Wu quote even after removing [influences] and breaking the quote up into two smaller fragments. The only place this "quote" shows up is in this author's article
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What I have been able to find is a Business Week article on the same study which claims a new technique, CMA, is being pushed as a genetic test for autsm (now we see the influence of money enter the equation). This claim of improved genetic testing is based on CMA "identifying" 7% of autistic cases in the study. I believe that is a misquote by Business Week and that the reported percent was 1%
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Also in this Business Week article is a quote from Dr. Robert Marion, a pediatric geneticist at Children's Hospital at Montefiore Medical Center in New York City.
"In the vast majority of cases, we believe there is at least a genetic predisposition to autism, but the ability to identify a specific genetic cause has been very elusive," Marion said. "Part of that is because of the technology that's been available. A LARGER PART IS AT THIS POINT, WE JUST DON'T FULLY UNDERSTAND WHAT THE GENETIC MECHANISM THAT LEADS TO AUTISM IS."
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This directly conflicts with the Emily Singer's ideas and statements about genetic causes of autism. Also in the Business Week article it is revealed that The Autism Consortium is the major player in the quoted study's backing. This is a significant conflict of interest not reported in Ms Singer's article. The Consortium is HEAVILY tied to Merck, the largest maker of vaccines in the world, and Merck has a desperate interest in proving genes cause autism rather than vaccines.
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Vaccines are the only obvious correlation to autism and autism's meteoric rise in the past 20 years. NO OTHER HYPOTHESIZED EXPLANATION HAS ANY EVIDENCE ASSOCIATED WITH MORE THAN A FEW PERCENT OF AUTISM, WHILE VACCINES ARE ASSOCIATED WITH AUTISM OVER 95% OF THE TIME.
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In a 2008 CBS News interview Dr Bernadine Healy stated "Vaccines may cause autism" & "It's inexcusable that the proper research has not been done!". Dr Healy is a highly accomplished very intelligent mainstream doctor and scientist (Vassar summa cum laude, Harvard Med cum laude, intern and resident at John Hopkins, Director of The NIH, Chair of The Research Institute at The Cleveland Clinic, Professor of Medicine at John Hopkins). For her, in 2008, to make such a strong statement about vaccines needing to be studied as the cause of autism is a shocking call to arms.
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I feel Ms Singer's article is deliberately slanted, exaggerated & contrived, to unrealistically and falsely represent/support that genetics are autism's cause.
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There is MUCH more wrong with her article I could point out, but I feel the "errors" I have addressed are sufficiently egregious and that she should retract the article and apologize for publishing it.
Reply
Lee Veitch
1 Comment
Re: Horrbile mistakes and generalizations
I'm a parent of two children with autism - a 100% hit rate, if you like.
My son (first child) was fully vaccinated up until we suspected autism. Then his vaccinations were ceased completely, as a precautionary measure.
My daughter (second child) was never vaccinated - not even the standard hospital birth shots, as she was born at home.
She has autism anyway.
If vaccines are the cause, then the fairies vaccinated her in the middle of the night, because she certainly wasn't vaccinated with my knowledge.
For goodness' sake, stop blaming vaccines, and let's get to the bottom of this.
My studies (and believe me, I've studied!) suggest that autism is on the rise, that it is genetically based, and that the genetic weaknesses that have been dormant in our society are being activated by environmental factors. In most cases, probably NOT vaccines!
This isn't about blame, this is about fact, and finding a cure for our children. Every time I hear "vaccines did it" I want to scream - it just makes parents of kids with autism look like scientific dumbos.
There are other toxins in our world besides vaccines.
As an aside, I'm currently studying the links between familial atopy and autism, which are statistically significant.
Reply
Jstafura
2 Comments
Re: Horrbile mistakes and generalizations
Clearly the author of this comment is part of the group that attacks any claim that isn't tied to vaccines, something that has been debunked in several studies.
All they have done is bring back measles.
Reply