New Gene Variants Linked to Autism

Researchers come closer to developing a genetic test for the disorder

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In one of the largest-ever studies of genetics and autism, researchers have identified 24 new gene variants associated with autism spectrum disorders (ASD). The work also confirms that 31 variants previously linked to the developmental disorder may serve as useful genetic markers for identifying those with the condition.

Understanding autism’s genetic roots is a priority, researchers say, since it may lead to earlier diagnosis and behavioral intervention, which can improve patient outcomes.

(MORE: Behavior Therapy Normalizes Brains of Autistic Children)

“Oftentimes findings like this get published in academic journals, but they don’t get translated into clinical use,” says Chuck Hensel, an author on the new research study, published in PLoS ONE, who is the senior manager of research at the genetic diagnostics company Lineagen. “Our goal,” Hensel says, “is to try to get these markers into the clinic.”

Hensel teamed with researchers at the University of Utah and the Children’s Hospital of Philadelphia and devised a two-pronged approach for hunting down genetic markers of autism.

First, the researchers chose 55 people living with autism, all from families with many members diagnosed with ASDs. The scientists then sequenced the genomes of these subjects, and compared the genetic profiles to those from a reference population, using the Utah Genetics Reference Project. That allowed them to find regions where the autistic individuals differed from people without the disorder, and led to 153 gene variants, or genetic red flags for the condition.

(MORE: Researchers Discover Genetic Patterns of Autism)

But because ASDs occur in a spectrum of mild to severe symptoms, and the genetic contribution of each of these variants likely varied, they needed to find out which of the 153 aberrations were most strongly linked to autism; some were likely indirectly connected to the disorder, and the scientists wanted to weed out those potential red herrings. So Hensel and his collaborators built a new molecular test, or probe, that would identify the 153 variants from a patient sample of blood, as well as  for 185 other gene variants that previous studies had linked to autism. Running this probe on genetic samples collected from 2,175 children with clinically diagnosed autism spectrum disorders and also from 5,801 children with normal development, they could compare how well each of the variants matched up with an ASD.

Of the 153 initial candidate gene variants, 15 were confirmed as autism-related. The test also picked up another nine autism-related variants that had never  been linked to autism spectrum disorders before. Participants with any of the 24 variants had a two-fold greater risk of developing an ASD than those without the genetic changes.

Of the previously selected 185 genetic variants connected to autism, 31 were also strongly linked with ASDs, but need additional testing to establish how predictive they are of the disorder.

(MORE: Autism Rises: More Children Than Ever Have Autism, But Is the Increase Real?)

Autism researchers suspect that as many as 200 to 400 genes may be responsible for ASDs, and that patients will exhibit a wide array of diverse genetic combinations of these DNA contributors. Not every person with autism will have each and every autism-related gene variant, but it’s likely that he will show some variation of the genetic changes identified in the study. “The bottom line is that autism simply is a lot of different diseases genetically, each of which gives you a similar behavioral result. But they have different causes,” he says.

And that’s why the findings, as encouraging as they are, still can’t be used to diagnose and identify people at risk of developing autism. However, Hensel hopes that large studies like the current one may start to isolate the true genetic predictors of the condition.

“Because of the size of this study, it really gets us to the cusp of using [genetic markers] clinically,” Hensel says. “We wanted to do a big enough study that we could say, yes, these results really mean something.” And hopefully, within a few years, they will.

92 comments
CynthiaParker
CynthiaParker

John,

Your  posts were spot on and very moving. It's tragic that  so many childen's lives must be ruined before this money-driven debacle is halted. Don't pay attention to the pharma sharks who circle in en masse to tear us up, we know what motivates them, don't we? What can we do?

CynthiaParker
CynthiaParker

John Suffolk,

I agree with you. I'm at ciaparker2 which is at gmail.com   Could you contact me? I'd like to help with setting up a way for vaccine autism parents to make common cause.

JohnSuffolk
JohnSuffolk

we need a common face book page for parents with children with Autism after injection to communicate on and perhaps some of these parents may be lawyers or Barristers who will take up a joint cause to pursue these manufacturers of MMR  through courts who have lost cases around world 2012/13 and admitted certain types of children with certain genes are at risk the easy answer is they should look at genes before injecting with a blood tests ..... the U.K is the only one ignoring the truth now and I think Italian ruling set a European president  to open a case in Brussels if not U.K ........the population has a Autistic rate of 6.2%  does not anyone find this alarming !

JohnSuffolk
JohnSuffolk

both of our children two and four years old only  days to weeks after injection stopped  talking and became autistic we will never give them the booster or what its called now the final silence injection .....all round the world 2013  Italy USA France Germany maker of MMR losing cases and paying out only  U.K denying link ......the outcomes are MMR triggers autism .....wake up UK listen to Parents and world wide court rulings Although I believe the Italian one now open gates in U.K for claims ......As for measles we all had it as kids we got it got over it only people with underlying health problems die ..........of coarse the Government want immunisation most of M.Ps have shares in firms !



Read more: http://healthland.time.com/2013/01/15/new-gene-variants-linked-to-autism/#ixzz2VML

goodfather
goodfather

Although i do not believe in giving my child vaccines, its not the cause of his autism. The TV is!..and all other electronics!.. computers, ipads, iphones, video games. My son watched wayyy too much TV at a young age and was diagnosed at around 2 years old. I took it completely away from him, all electronics. He is 3 now, and al i can say is I have my son back. Im telling you people! Technology is backfiring!...We grew up playing board games, playing tag outside, throwing rocks!.. this generation children own ipads at 2. You think i'm crazy?..Look up autistic children on YouTube, 90% of them are stuck in front of a TV or some kind of electronic. 

lilady
lilady

Excellent article and part of the science of genetics that adds to our knowledge about autism.  It's about time that resources are devoted to real science, now that vaccines have been totally exonerated as causing autism.



CynthiaParker
CynthiaParker

There's a genetic tendency to react to vaccines, but if you don't get vaccines, you're fine. My daughter reacted to the hep-B shot at birth, which I had said I didn't want her to get, with four days and nights of endless screaming, vaccine-induced encephalitis. She had started to say two words by 18 months, uh for up and uff for dog, she got the DTaP booster, and bam! completely erased her words, and she didn't say another word until 34 months. She had been diagnosed with autism in the meantime, at 20 months old. All the children who regress after the MMR were fine before they got it, walking, talkiing, socializing, they get the MMR, and bam! they regress into autism and bowel disease. Not born with it. Pushed into it by vaccines. If you avoid vaccines, you too can avoid the encephalitis, heavy metals, and shift from the normal Th-1 immune response to the autoimmune Th-2 response that causes the myriad autoimmune diseases we see everywhere now. Vaccines are the major, if not only, cause of the tsunami of asthma, allergies, bowel disease, celiac disease, gluten intolerance, autism, ADHD, learning disorders, seizure disorders plaguing this generation of children. A purely genetic syndrome wouldn't account for the enormous increase just in the last ten years of all these diseases. And parents are waking up. A Sacramento Bee story last week reported that in some California counties, up to 70% of parents of kindergartners had taken exemptions to the shot requirement.

CynthiaParker
CynthiaParker

In 1988, when Rain Man came out, doctors were told that they'd probably go through all their professional life and never see a person with autism. In the 1980s, incidence in the U.S. was only three in every ten thousand. Then numbers started to climb precipitously with the start of the criminal hep-B at birth vaccine campaign that started in 1991. Even ten years ago, it was "only" one in 150. Now it's one in fifty (the one in 88 was for those born, like my daughter, in 2000. It's  not due to better diagnosis, it's not that they've always been around in the same numbers. If that were true, schools could trundle on like they always have, but instead, schools are falling apart under the huge numbers of severely impaired children pouring in. Most of these children will never be independent, and will depend on the government to support them. People can wake up now and put a halt to the vaccine epidemic, or they can see their taxes double and triple in the near future to care for the autistic.

VacLess
VacLess

Would it be worth adding another couple of variables into the research groups, what other environmental factors could be contributory, childhood immunizations received and when ? Or does this research believe at the outset that environmental factors are not at play ?

Perhaps genes don't articulate the entire picture ? Interesting research but very limited.

I too have read many times there is no such thing as a genetic epidemic.

VictorPavlovic
VictorPavlovic

Its a lie, they don't tell you in the U.S. Media that vaccines actually cause autism, all they do is bring in an so called expert doctor that regurgitates old, tired useless information, and tells you that there is no connection.What kind of person could be considered an expert when the average parent of a vaccine injured child knows more about autism.The autism research funded by the government has been on dead end roads ever since it decided to go down that one way street of genetic research, since we all know, there is no such thing as an genetic epidemic!

JennyAllan
JennyAllan

Quote from above :-

"Hensel says. “We wanted to do a big enough study that we could say, yes, these results really mean something.” And hopefully, within a few years, they will."

So, can we all assume these research so called 'results' don't actually mean a damn thing!!  We can't wait 'a few years' to address the obviously environmental causes of autism.

AndrewKilroy
AndrewKilroy

It seems that there is a convinced lobby of scumbags insisting that I am the product of an MMR jab. They're the lesser evil. The worst are those ready to use this scientific information to scrub us from existence.

alpha
alpha

I believe that the mercury in the MMR shots may have had something to do with it I also remember hearing mercury has some neurological effects

I happen to have autism and people need to know more about it instead of just assuming it is a disease that negatively effects a person.

Autism actually has major advantages such as being better at math and algebra than others. I seem to think outside the box and come up with ideas faster than any of my classmates.

JohnStone
JohnStone

What a load of bluff. The genetic model for autism failed long ago - all they have got is an ever more tenuous collection of statistical associations, and they are very excited because the more tenuous and diffuse it gets the more money they can demand to plug the ever increasing gaps. And note we are not talking about genetic determination, we are talking about genetic susceptibility. Gullible journalists think they are getting a story about genes, but actually it is about toxic environmental insult which is what, urgently, we should be researching, instead of wasting money on this junk. Twenty years from now these guys will still be saying "we don't know what causes autism" and slapping each other on the back.

MaurineMeleck
MaurineMeleck

There is no such thing as a genetic epidemic so these studies are just an excuse not to have to deal with the real causes of autism.  Autisms exist about as much as   flying nuns.   Autism is really encephalopathy following vaccines and or other toxic exposures  Over 2 decades, and scientists, doctors, the government, and the media have all failed autism families.  Now they're looking for an out-all these gene studies-a waste of time and money and not helping any of our children.

Maurine Meleck, SC

AnneDachel1
AnneDachel1

One has to wonder what these findings have to do with the current state of autism in American.  There's nothing here about the latest autism rate, now at one in every 88 children, one in every 54 boys.  There's nothing here to explain why a once rare disorder is now so common that everyone knows someone with an affected child and no official can tell us why.  There's nothing a mainstream doctor can tell a new mother so that her child who was born healthy and is developing normally won't also end up on the autism spectrum by age two.

Why aren’t we doing everything we can to stop autism from claiming yet another child?

Anne Dachel, Media editor: Age of Autism

AnneDachel1
AnneDachel1

Incredibly, no one seems concerned that when we talk about autism, we're always talking about children with autism.  No one has ever been able to show us a comparable rate among adults--especially adults with classic autism whose symptoms can't be denied.

Experts tell us that 80 percent of Americans with autism are under the age of 18.  That means there are a million children who will eventually age out of school and have to be supported by the taxpayers.  Maybe when that starts happening we'll do more than just look for genetic markers.

Anne Dachel, Media editor: Age of Autism

AnneDachel1
AnneDachel1

Readers might be interested in the most recent autism news.  The U.S. Court of Claims has awarded compensation for vaccine damage in two cases where the children developed autism.

Major news sites in the US have failed to cover this story.  It did come out in Britain.

UK Daily Mail: "American parents awarded £600,000 in compensation after their son developed autism as a result of MMR vaccine"

http://www.dailymail.co.uk/news/article-2262534/American-parents-awarded-600-000-compensation-son-developed-autism-result-MMR-vaccine.html?ito=feeds-newsxml

Why is this being reported in the UK and not in the US?


 
Anne Dachel, Media editor: Age of Autism

AnneDachel1
AnneDachel1

http://www.drmomma.org/2011/01/cdc-mandatory-vaccine-schedule-1983-vs.html

This link compares the childhood vaccine schedule in 1983 and in 2012.  The number of shots kids receive more than tripled during this time---all without a single study on the cumulative effects so many vaccines so soon on the health of a child.During this time we saw the epidemic increase in the autism rate.

Thousands of parents report that their child was born healthy and was developing normally until they received certain routine vaccinations.  Suddenly they changed, lost learned skills and regressed into autism.  Doctors can’t explain this.  They only thing they’re sure of is that their ever-expanding vaccine schedule isn’t to blame and they have lots of studies---all tied to the vaccine makers---to prove it.

 Anne Dachel, Media editor: Age of Autism


 

AndrewKilroy
AndrewKilroy

Autistics are looking for the day when we are not talked about like we are a disease. Imagine how many problems that would solve. No cheap parents selling us out so they can sue the USA over MMR jabs for starters.