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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 (130 Responses)
  1. Autism Mom

    L Ginn –
    Medicine shouldn't be prescribed just because a child has autism. There is no medication given specifically for autism. You should just treat the things that are causing the child to have problems functioning in society. For some that is hyperactivity, depression or obsessive-compulsive issues. Prozac has worked well for my daughter and has helped with her need to line things up in order to feel like she has completed a task and it DEFINITELY helps with impulse control and focus. In fact, before she took Ritalin, she couldn't tell use what set her off and caused outbursts. After Ritalin, she is able to say, "I got upset because...." Ritalin has been our wonder drug. Clonidine is great to help our daughter fall asleep at night and it also depresses the central nervous system and helps control aggression when that is a problem. Finally, if sleep is an issue, OTC melatonin works well. One medication is typically not going to solve all your problems and it is a trial and error thing, unfortunately and you WILL probably have to take some medications to counteract the side effects of other medications but keep tinkering. We resisted medication too and now can't imagine life without it. My daughter will tell you the same thing. Hang in there!

    June 10, 2010 at 10:36 | Report abuse | Reply
  2. Jim

    It matters, if only to help understand the real causes and stop blaming vaccines.

    June 10, 2010 at 10:38 | Report abuse | Reply
    • Ross Coe

      JIM..FEEL FREE TO RESEARCH AND SUPPLY US ALL WITH IRREFUTABLE EVIDENCE THAT PROOVES VACCINES DON'T CAUSE AUTISM. THEY ARE KNOWN TO CAUSE BRAIN DAMAGE ALREADY. WHILE YOUR AT IT BUDDY, FIND PROOF VACCINES WORK. PROBLEM IS PAL ALL YOU AND YOUR TYPE HAVE FOR EVIDENCE ARE THE SAY SO OF THE PERPETRATORS ONE OF THE WORST CRIMES AGAINST HUMANITY SINCE THE HOLOCAUST. SORRY, I JUST CAN'T TRUST THESE FRANKENSCIENTISTS.

      January 8, 2011 at 17:55 | Report abuse |
  3. Claudine

    As a mom to a little boy with autism, one thing I have to say to one of the recent posters is that I am not "heartbroken" that my son is autistic. It's a struggle for him and for us, but there are so many different things this has brought into our lives. We have a perspective on life that others do not. We have an appreciation for things that others do not. My only heartbreak is that before his diagnosis, he lived alone with it for so long. But the older he gets, the more amazing he gets. So, I would never, in all my days, use the word "heartbroken". In my humble opinion, I am the luckiest mother in the world.

    June 10, 2010 at 10:43 | Report abuse | Reply
  4. Aounfather

    This is good news, as the brother in law of a person with severe developmental disabilities anything that may lead to better treatments and the possibility of a method of prevention are wonderful. I hope we can find something soon because the rates of children being born with disabilities is increasing and I would like to see us armed with something that will let these children have a normal life.

    June 10, 2010 at 10:45 | Report abuse | Reply
  5. Angela

    Treehugger... Not all families are "heartbroken" over the diagnosis of autism. In fact, in my kids' cases, I was quite relieved. Once I had the diagnosis, the path to walk on became that much clearer. People that let stuff like this defeat them cannot see the inherent beauty of their children, as they ARE. I myself was diagnosed with Asperger's Syndrome in 2006, and I do NOT want to be "cured" or made into a neurotypical, aka 'normal' person. I also do not want this for my kids. They are beautiful individuals with very independent thinking. I wouldn't trade them or their personalities for all the 'normalcy' in the world. Especially when you look at what 'normal' people are more prone to doing. Thanks, but sincerely NO THANKS.

    June 10, 2010 at 10:50 | Report abuse | Reply
  6. Claudine

    Great post, Lance. It's sad that people are criticizing the scientists. Any information we can find out about autism is helpful. Yes, this may have come too late for some, but that's to happen in all scientific studies. If it wasn't an issue, they wouldn't do the study. This is a good step going forward to be able to assist in treatment for those who can benefit. How can that be a bad thing? You know the old saying about gift horses...

    June 10, 2010 at 10:51 | Report abuse | Reply
  7. samantha

    I have read some research about autism and I don't believe there is one cause. Posts have said that parent's only really know what helps their child...well, then wouldn't a parent be able to notice the change that caused their child to develop autism? Some people find a change in their child when they change their diet, research says it doesn't make a big change...but they say if it works for your child, keep doing it.

    every child is different.

    June 10, 2010 at 10:54 | Report abuse | Reply
  8. Tina Hillson

    Autism and related disorders (such as NLD) DO run in families. My sister has been diagnosed with Asperger Syndrome, I have been diagnosed with NLD, and one of our Dad's aunts had all the hallmarks of Asperger's.

    Moreover, I believe that being "on the spectrum" is a LOT more common than most people think. The only reasons we seem to be noticing it so much now are (1) better diagnostic tools and (2) the breakneck speed of the world. Life today is a lot more heavily dependent on multi-tasking and social skills than it used to be, so those of us whose brains are wired differently are having more trouble keeping up.

    Another thing to be noted to anyone whose kid is diagnosed with ADD: If your family includes Aspies, your kid might have NLD rather than ADD. I was misdiagnosed twice before a neurologist figured me out. :-) Lastly, life is not hopeless for someone on the spectrum. With treatment and social skills training, my sister (who was once virtually non-verbal) has come a long way. It is important to make the treatments and social skills assistance available to everyone, including older adults. A/S is a lifelong condition, but it doesn't have to be debilitating, and it doesn't have to be a reason to keep these bright people out of the workforce.

    June 10, 2010 at 10:56 | Report abuse | Reply
  9. William Rist

    My son was first diagnosed at Children's Hospital in Colorado with Autism at age 15. I question the physician who diagnosed my son.
    The hospital also tried to charge us $10,000, for services that were
    never done, this is fraud, the Department of Veterans Affairs did an investigation and determined that my complaint was justified. I would encourage people to question physicians as to how they diagnose any medical condition, there needs to be testing not guessing. It's all about the money and less about the patient, because their is always a conflict of interest placed over patient health and safety.

    June 10, 2010 at 11:02 | Report abuse | Reply
    • Ross Coe

      WILLIAM, GOOD ADVICE. DOCTORS ARE MERELY YOUR ADVISER NOT YOUR LORD AND MASTER.

      January 8, 2011 at 17:59 | Report abuse |
  10. Ian

    For everyone griping about sample size, I'm certain that the researchers did a power analysis. It would never have gotten IRB approval without that data.

    June 10, 2010 at 11:11 | Report abuse | Reply
  11. Emily

    Chad – please look up the medical definition of comorbid before you start saying it is wrong. It is completely medically accurate.

    June 10, 2010 at 11:13 | Report abuse | Reply
  12. Karen

    Angela, I agree with you 100%. There are supposedly 80,000 or more chemicals that have been created and introduced into our daily lives within the past couple of decades. Very few have ever been tested for safety and even if they are tested, the manufacturers have their lobbyists to get the truth covered up anyway. Our genes are certainly affected in who knows how many abnormal ways because of all of the toxins. And it is quite possible that vaccines have plenty to do with developing autism because of the known poisons they include in the vaccine. Children today are vaccinated with so many vaccines, and at such young ages, when they are just developing. Pay attention, people. The air, food and water are full of poisons.

    June 10, 2010 at 11:27 | Report abuse | Reply
  13. aurora phoenix

    thoughts from the other perspective- Einstein. liberace. and many, many others like me "on the spectrum" it's been heavily suspected if not actuall known, that autism is caused by genetic diversity.
    if neanderthal and cro magnon had known that genetic switches had been tripped, resulting in the creation of what is now know as homosapein, and that it would have meant their eventual extinction, where would we be today, if they had found a way to stop the change? in caves?
    thinks like this that change a species, don't change uniformly. some are debilitated by it and some are excelled by it.
    the human being is the only creature that has the pretentiousness to believe it has reach its pinnacle of it's development, and that anything that is less ( or more) than the cookie cutter version is somehow wrong or defective.
    i think "curing" or "preventing" autism may well stifle human progess and development.on the extreme side, contribute to the extinction of the species. i may be wrong. lets look at trends in this later like 500 years from now ( a blink of an eye in geological time)
    throguhout history of the earth, all speciaes that were either unwilling or unable to adapt or develop, became extinct- without exception.
    for all those heartbroken about their autistic child. you are narrow minded fools. we have been poked prodded "traioned" like circus animals, annoyed and tortured. we don;t want to be like the neurotypicals. go to the dept of justicwe website, there are no criminal statistics on persons with autism. no serial murderes or rapists, no drunk drivers, no domestic violence, no bank roobbwers, yet, you insist we at leaat parrot your behavior as if it were somehoow a lofty thing. leave us alone we do quite well on our own. in fact, usually we excell past the neurotypical minds in many ways. if this were not true, you would not have the technology you have today.

    June 10, 2010 at 11:33 | Report abuse | Reply
    • Ross Coe

      I'D RATHER NOT TAKE ADVICE OR BELIEVE THE RAMBLINGS OF SOMEONE WHO CAN'T SPELL, I'M JUST FUNNY THAT WAY.

      January 8, 2011 at 18:02 | Report abuse |
  14. Elizabeth

    My daughter was diagnosed by different specialists by the "TOLD" test, and brain scan tests, as auditory processing disorder, ADHD, and ADD. She struggled to figure out words, and later what people said, and also how to organize ideas, memorize school information. Six months after hearing something, she would suddenly remember it and have it organized, for example, she almost failed every test when she took chemistry in high school because the tests at end of week or marking period were too soon. But six months after she took chemistry, she got a 98th percentile on her chem. ACT test. She couldn't keep her mind on paragraphs, only picking up the very end. As a toddler she hated loud noises and people looking at her, and would punch me in the eyes. But, she was never diagnosed as "Autistic;" a neurologist ignored tests made by speech therapists because the insurance had limits. I think that if you are rich, they continue to test, but if you are not rich, at some point the diagnosis and treatment stops.

    June 10, 2010 at 11:35 | Report abuse | Reply
  15. still against vaccines

    please.. kids receiving 30 vaccines has NO effect?? I only got a handful and am fine. I wonder what it will be like 10 years from now.. 40 vaccines? It's all about the money.

    June 10, 2010 at 12:11 | Report abuse | Reply
    • Ross Coe

      IN THE 30'S PRIOR TO AN INCREASE IN PUBLIC VACCINATION PROGRAMS, THE RATE OF WHAT WAS CALLED AUTISM WAS ONE IN TEN THOUSAND (1 IN 10,000). TODAY IN MINNESOTA ITS ONE IN FORTY SEVEN (1 IN 47). ONE WONDERS HOW MANY MORE DECADES IT WILL TAKE VACCINES TO ENSURE IT AFFECTS ONE HUNDRED PERCENT (100%) OF THE CHILDREN. THOSE OF YOU WHO ARE NOW PRO-VAC WILL GET YOUR TURN TO SUFFER AND THEN YOU'LL TRULY UNDERSTAND.

      January 8, 2011 at 18:08 | Report abuse |
  16. Vasago

    I really love reading the posts blasting those who question vaccines. One thing is for certain, not a single one of you have a child with autism. Not a single one of you had a normally developing child who, after being vaccinated, stopped speaking and regressed developmentally (don't bother responding with the lie that you have a child with autism).

    Our son's neurologist has a very simple approach. He said we don't know if vaccines are a trigger because we simply don't understand the genetics yet. Autism is clearly a triggered genetic disorder, the only question is if that trigger is avoidable. Can a vaccine be a trigger? What about the common cold? Some unavoidable neurologic development?

    The answer is we simply don't know yet. So, although I'm happy for those of you who don't live this nightmare daily and appreciate your freedom to be ignorant, please leave the real search for answers to the adults.

    June 10, 2010 at 12:23 | Report abuse | Reply
  17. Monica

    My academic background is in neurobiology. I work in a cognitive research lab and see young adolescents with autism spectrum disorders frequently. It is amazing for me to see a study like this with a sample size of 1000 individuals. I'm used to seeing sample sizes averaging 20 individuals. We absolutely need more basic scientific research like this to understand ASD better, educate MD's better to provide appropriate diagnoses, as well as implement more behavioral treatment programs and support groups for affected individuals/families to protect individuals in the future. But before that can happen, researchers need the support of currently affected individuals by giving their valuable date through participation in studies.

    June 10, 2010 at 12:36 | Report abuse | Reply
  18. aslignmentguys

    to the Genetically altered food blame game: We have been eating genetically altered food for thousands of years. Farmers have been genetically altering food for better yields since farming has been around.

    June 10, 2010 at 12:41 | Report abuse | Reply
  19. molly brown

    A recent UC-Davis study has shown an increase in autism (600%) in the past two decades. Cluster areas around Silicon Valley and Rochester NY have strong correlations. One theory is those with Aspergers are drawn to the high tech, computer programming fields. If two people who are mildly austic and eccentric have children, the chances of severe autism increase. The UC-Davis study also revealed higher incidences of autism as we age and become parents. Middle age men who have a child with a woman under 30 have higher risks of autism. Also, women over 40 have the highest risks of having a child with autism. Although both groups still have a 95% likelihood of having normal offspring. Hollywood celebrities keep pushing the envelope of wanting to be immortal through offspring. I personally think it's selfish and unfair to have a child in your fifties. By the time he/she graduates from high school, the parent is pushing seventy or older. Our genes, eggs, and sperm have a shelf life. And future studies may reveal the best time to reproduce is when you are young, healthy, and energetic enough to become a parent. Dolly the cloned sheep had old genes, although she was newly born. She died prematurely either from cloning or having older genes. Something to contemplate for future generations.

    June 10, 2010 at 12:54 | Report abuse | Reply
  20. Dewayne

    If you cannot solve the problem, at least dazzle the public with propaganda. There is so much "scientific data" based on sample sizes that would be able to ride in a bus or stay at a hotel, and the situation continues. Many researchers have made a career from conditions such as Autism, and will NEVER solve it. If you follow the money, everyone feels great about their donations, tax funded research, and the letter to their favorite elected official, but NO ONE wants to solve the problem. Stay on the same course and nothing gets done.

    June 10, 2010 at 13:24 | Report abuse | Reply
  21. Nina

    I don't think the theory of vaccinations contributing to Autism has been "debunked" as so many of you like to say. The article simply states "The causes may vary and include biologic, genetic and environmental factors, there is no known cure." Biologic factors include vaccinations. Vaccinations can flip the switch to trigger Autism. The key is determining the genes affected along with the "triggering" factors. If we could genetically test our children prior to vaccinating that would help tons. You can not simply say that what works for one child will work for them all. I have two cousins who had shown no signs of Autism, and after their third birthday (with both boys) they were given their MMR and guess what, they deteriorated greatly and were diagnosed. I would like to think that had we had them genetically tested prior to their shots and new that there was the slightest risk of Autism we would have simply skipped the MMR.

    June 10, 2010 at 13:31 | Report abuse | Reply
  22. Doug

    A number of people have questioned the sample size of the study. The issue is that the technique used (genome-wide microarray) is challenging and very expensive – probably ~$1000 per patient (plus a similar cost for each parent). This cost obviously limits the sample size; using >1000 autistic and >1000 control children is actually a very large sample for such a study.

    The advantage of this technique is that it can analyze many different locations in the genome at once, so it is incredibly powerful when you don't yet know exactly what you are looking for. Now that the researchers have honed in on specific CNVs, they could certainly focus specifically on these with larger sample sizes.

    Nevertheless, the sample sizes used her are plenty large for statistical analysis. The statistical tests they used account for sample size, meaning the test tells the researcher whether the sample size is sufficient to draw meaningful conclusions.

    June 10, 2010 at 13:33 | Report abuse | Reply
  23. Wowhead

    A research study by UC Davis M.I.N.D. Institute, published in Jan 2009 issue of the journal Epidemiology, shows that the growth in autism in California cannot be explained by either changes in how the condition is diagnosed or counted – and the trend shows no sign of abating.

    "It's time to start looking for the environmental culprits responsible for the remarkable increase in the rate of autism in California," said UC Davis M.I.N.D. Institute researcher Irva Hertz-Picciotto.

    "The methodology eliminated migration as a potential cause of the increase in the number of autism cases. It also revealed that no more than 56 percent of the estimated 600-to-700 percent increase, that is, less than one-tenth of the increased number of reported autism cases, could be attributed to the inclusion of milder cases of autism. Only 24 percent of the increase could be attributed to earlier age at diagnosis. "

    "These are fairly small percentages compared to the size of the increase that we've seen in the state," Hertz-Picciotto said.

    June 10, 2010 at 14:01 | Report abuse | Reply
  24. disgusted

    All of you that are speaking of genetic mutations need to go back and read the artical again. it said that a gene not carried by the parents is present not a genetic mutation. Also all of you consperiacey theory, peta, doomsday hippies need to find some other way to protest. Your comments are mudding waters that are already too murky to navigate by throwing things out there that mean nothing.

    BTW of course there is genetic mutation going on in a portion of the population it is called DARWINISM! Evolution is happening every day.
    I like to think of my Autistic son as the starting point of the next human speices. it has been about 8000 years since the last one time for a new one.

    June 10, 2010 at 14:27 | Report abuse | Reply
  25. Pandora

    @ Sofrito ...thank you for being honest and saying that. I have been saying the exact thing for years in regard to my brother and his wife. Their youngest son has autism and she blames it on vaccines. She is even too scared to get the flu shot now. She sent out an email years ago trying to make us all believe that vaccines cause autism and we replied back telling her no genes cause autism. That set off a chain reaction and now I no longer speak to them. I am the horrible evil person in the family because I spoke out and disagreed with my sister-in-law about her nonsense. I’m happy science is finally moving forward and proving all these people wrong. I know it’s to hard a child with any disability but blaming an outside source for something doesn’t fix the situation. Come to terms with the fact that your genes cause autism and quit telling people who disagree with you that they are ignorant. The real ignorant person is you because instead of listening to others you have to stomp your feet like a child because they won’t agree with your nonsense science. Vaccines DO NOT cause autism...GENES do!

    June 10, 2010 at 14:37 | Report abuse | Reply
    • Ross Coe

      Pandora..you are a perfect example of a person who just doesn't get it. Something tells me you have read nothing about vaccines side effects and are just putting your 2 cents in because you can. You are the perfect consumer, and vaccine companies should hire you to influence others like you into risking their children's entire lives. they absolutely love to push their products on clueless mothers who fall for the fear mongering marketing they use.

      January 9, 2011 at 14:32 | Report abuse |
  26. Julie

    The amount of misinformation in some of these replies makes me incredibly sad. There are many diseases that have a multi-genic basis...ie mutations in many different genes can cause them, and the severity of the disease depends on what mutation(s) occurred. Cancer is another excellent example, and that fact that each one is genetically unique is the main reason it is so hard to cure or predict how well a treatment will work. It would not be surprising at all if autism is another such disorder. That would explain why the cause has been so hard to pin down.

    June 10, 2010 at 14:52 | Report abuse | Reply
    • Ross Coe

      ACTUALLY JULIE OUR KNOWLEDGE OF DISEASE IS MUDDLED BY VARYING OPINIONS AND MISINFORMATION. MANY CONDITIONS ARE CAUSED BY VIRAL AND NUTRITIONAL FACTORS PLUS MAN MADE POISONS AND "PROGRESS" AS ITS CALLED. THESE CAN AFFECT OUR GENETICS AND DOES. VACCINES CONTAIN GENETIC MATERIAL FROM INTENDED VIRUS, STEALTH VIRUS SUCH AS SV40, ANIMAL PROTEIN/GENETIC MATERIAL FROM ANIMALS SUCH AS CHICKEN, MONKEY, CATTLE AND WHO KNOWS WHAT ELSE. SOME ARE CULTIVATED ON ABORTED HUMAN FETUS (THANK GEORGE DUB-YA). SOME VIRUS IS LIVE AND CAN MUTATE, WHILE SOME ARE CONTAMINANTS NOT SUPPOSED TO BE THERE. VIRUS CAN EXCHANGE GENETIC MATERIAL WITH OTHER VIRUS OR WITH ITS HOST AND BECOMES MUTATED INTO A NEW VIRUS. INJECTING HUMANS UNNATURALLY WITH ALL THIS MATERIAL WAS A DISASTER WAITING TO HAPPEN, AND WE CAN NOW STOP WAITING..ITS HERE.

      January 8, 2011 at 18:25 | Report abuse |
  27. kate

    As the parent of an adult son with autism I find these discoveries interesting. But, what I find more interesting is the virtual explosion of autism spectrum diagnoses in the last two decades! I personally do not feel it is due to better screening etc. etc. there is no question in my mind that it is MUCH more prevelant in our society today.
    I think that allowing big pharma to essentially bind and gag physicians from even questioning the possible link between immunizations and autism is a crime in and of itself.

    As a parent who has watched my son be ridiculed and shunned by his peers, never to go on a date, never drive a car or hold a job I say protecting some companies profits over this human heartbreak is such an evil act. Remember how the big tobacco companies told us many years ago "no problem with cigarettes, tobacco is great for ya, and it makes you look cool as well" Well we all know better now don't we??

    June 10, 2010 at 15:07 | Report abuse | Reply
  28. Carrie Welte

    I am an adult with the autism spectrum disorder called "Asperger Disorder". I was born with it and when I was growing up people that of me as just weird because back then no none knew what Asperger was. I was just professionally diagnosed with it four years ago by a psychologist. Its being very hard and challenging for me. Alot of times I just feel like that I am not as good as everybody else. I am doing my best but I definitely make lots of mistakes in social situations and that gives me a real low self esteem. I get frustrated alot.

    June 10, 2010 at 15:11 | Report abuse | Reply
    • Ross Coe

      CARRIE YOU WEREN'T BORN WITH IT, IT WAS CAUSED.

      January 8, 2011 at 19:00 | Report abuse |
  29. 2tired2play

    As the mother of 2 teens with ASD, yes it matters, and the point is that we have to start somewhere. We've been studying cancer for more than 30 years. But we haven't given up. Why should we give up on ASD? We are doing something to help families in the future by participating in the Autism Genome Project. Better to light a candle than to curse the darkness!

    June 10, 2010 at 15:45 | Report abuse | Reply
  30. Studying Autism

    We should be happy progress is being made. Its a difficult disorder involving many complicated, not yet understood processes, but progress is progress, and this is a step in the right direction. Also consider that by being able to identify these genes may help to create a good animal model, which may help to develop a treatment. It may also lead to prescreening during pregnancy (as with downs syndrome).

    June 10, 2010 at 16:15 | Report abuse | Reply
  31. Valerie

    My son born in 2001 has PDD-NOS (very high functioning autism). This was before BPA had been banned in baby bottles and before thimerisol was taken out of vaccines. I don't remember any sudden change in his condition. He was a very happy baby, somewhat focused on his toys, and he just never started talking by age 2, so he had a speech therapist (provided by the school district) from 2 to 3 and then entered a special education preschool from then on to kindergarten. Now he is in a normal public school (where about 40% of the students are disabled either physically, mentally or emotionally) and on an IEP, but doing great. Talking and very brilliant at math and video games. He has a four-year-old sister who has so far shown no problems.

    I am currently pregnant with a third child. I have been taking steps to prevent whatever I possibly can with this one. No drugs of any kind, no canned food, no liquids from plastic containers, no folic acid – only folate, almost no meat and limited dairy while getting protein from plant materials. I am not looking forward to the second ultrasound (not the initial heartbeat monitor but the imaging one) and may skip it altogether. No vaccines for this baby for the first 5 years, I may have to say that it is against my religion or something. It is very difficult to be proactively healthy in the modern world. Everywhere you turn, some chemical threatens to harm you and your family. Corporations and companies do not care about health, they care about money. There is so much ignorance and lack of time to learn what is truly healthy and what is hazardous by the general public. This is because all media is esentially owned by the powers that be and it is not in their interest for us to be healthy, only to be sick so we can be diagnosed and keep supporting the system.

    June 10, 2010 at 16:38 | Report abuse | Reply
  32. Ann Wagner

    One study carried out in Israel suggested that men who became fathers at the age of 40 or older were nearly six times as likely to have a child with autism compared with men younger than 30 when they became fathers.

    Research into schizophrenia suggests that the risk of the illness doubled among the children of older fathers compared with the children of men who became fathers in their 20s.

    Source: http://www.herald.ie/national-news/city-news/why-older-men-risk-fathering-autistic-children-1924606.html

    June 10, 2010 at 16:38 | Report abuse | Reply
  33. Crystal

    YES it does matter! I am the mother of two Autistic children.A 10 year boy and a 6 year old girl! It is imperative that we find the cause or causes so that we can improve their quality of life and perhaps find a cure!

    June 10, 2010 at 16:46 | Report abuse | Reply
  34. Ashley

    Chad- The term "co-moribid" is extremely common terminology in medicine and epidemiology. It simply means when two conditions occur in the same person. Like having asthma and diabetes. The connotation is not the same as the word "morbid."

    June 10, 2010 at 16:59 | Report abuse | Reply
  35. Kristen

    Co-morbid means co-existing conditions, like my son's ADHD which coexists with his ASD but is NOT the same. His behavior is totally different than my older son who is straight Aspberger. Co-morbid is a clinical term. The behaviors associated with ASD make life difficult for those who have to learn to live with someone with the condition.

    Finding the genes means genetic testing at birth which means therapy (the ONLY method that has shown reproducilble results) can begin very early. My oldest received therapy in the form of parents that didn't know that this wasn't the way children were supposed to behave. We adapted to his world and ended up stumbling into "behavioral therapy" on accident very early in his life. Genetic research is vital, even if it only allows us to tell Jenny McCarthy to shut the heck up.

    June 10, 2010 at 17:16 | Report abuse | Reply
    • Ross Coe

      KRISTEN...ARE YOU CHILDREN VACCINATED? iF THEY ARE NOT VACCINATED SAY SO, AND YOU CAN VOUCH THAT VACCINES HAD ABSOLUTELY NO CONNECTION TO YOUR CHILDREN'S VIDS (VACCINE INDUCED DISEASES).

      January 8, 2011 at 19:05 | Report abuse |
  36. Sally

    I can't imagine why anyone would want to go into medical research with the level of vitriol that is leveled at them here as a result of having conducted a useful, ground-breaking study on the roots of autism. Just because the results don't solve ALL of YOUR PERSONAL PROBLEMS, doesn't mean it isn't important research. Get your own PhD, and then you can make the sample size whatever you personally feel is appropriate.

    Also, vaccines and environmental toxins can damage the DNA of a small population of cells, but not all of them as described in this study. New DNA repeats can show up in fetuses for many different reasons, it's how we evolve. But they aren't from a vaccine, I guarantee that.

    June 10, 2010 at 17:28 | Report abuse | Reply
  37. Markusmom

    Some of these comments are the biggest pile of bunk I have read in awhile. Some childern may have a genetic predispotion, but that does not negate that fact that vaccines do not implicate more problems (autism) for our kids. Plus all the chemicals and genitically engineeered food. etc. As mentioned earlier, you may have each parent who has perfect genes and then your child has not. Are you calling that genetic!!!!! Wake up!!
    There are MANY identical twins out there, one with autism and one without. so much for genetics.... Why Autism Speaks are you spending so much money on this!!!!! Why are some of you bloggers so eager to accept this as the only autism truth. I bet you do not have a child with autism!!!!! Also How can you slam Jenny and what she stands for. Green our vaccines. you just can't stand it that she is smart and beautiful, and not afraid tio stand up for what she beleives in. Good luck to you, if you line your own kid up for every vaccine.

    June 10, 2010 at 17:35 | Report abuse | Reply
  38. Chris

    Autism is gentically based and environmentally enhanced. I have a son with Autism and it's the hardest thing in the world to deal with.

    June 10, 2010 at 17:43 | Report abuse | Reply
  39. DC

    My 2 best friends both have sons who are autistic. Both of these kids are beautiful, charming kids and it has been a pleasure to see them both grow and progress over the years. We participate in the Austism Speaks walks walk every year at UNLV and Ireally hope that one day "they" find the source of this and a cure. I find it heartbreaking that some insurance companies and/or states do not do enough (or anything?) to help these children and families. Then again, I may be called a socialist for that statement.

    June 10, 2010 at 18:18 | Report abuse | Reply
  40. Melissa

    Based on what other info I've read on autism, I think "lx" has hit the nail on the head. It's not just the mercury in vaccines, it's the combination of the toxic solvents, carcinogenic "preservatives", and fillers in vaccines that is part of the problem. The food we eat is so messed up from unmonitored & monitored insecticides, genetically modified crops, the water used to feed the crops is usually recycled groundwater–which contains remnants of the insecticide most farmers keep using–that the vegetables and fruits soak up via their root systems, and just plain nutrient-poor soils that no Potash, Nitrogen, etc additive can cure. There is very little crop rotation anymore, which doesn't help one bit.

    The causes of autism are not just one thing–genes are a result of humans "bettering" their environment without thinking through the consequences for future generations. It's rather unfortunate that the govt subsidizes crap crops more than organic crops. It's unfortunate as not everyone can afford the cost differential between certified organic crops, and insecticide-filled crops. ((A side note on cert organic-US has slack rules for certification of organic crops compared to other countries, but at least it's a start.))

    I would have expected Autism Speaks to put their money into better research–not genome research, but more money into educating parents on the numerous variables that cause Autism, and more money into helping families who have to spend 20K+ out of their own pockets EVERY YEAR to get their children the help they need. Genome research is a waste of money and time, when it's environmental factors that affect human genetics. I could have found better ways to spend their $9M other than making parents feel like they're inferior because their children have gene mutations.

    June 10, 2010 at 19:18 | Report abuse | Reply
  41. Suzie

    @ Jillian...I am a parent as well of a son with HFA...He was text book when he was 18 months up until 3 years ago.. he is 11 now.. in the 4th grade EXTREMELY verbal does 8th grade math.
    I agree there is hope out there. I thought I would never ever hear him say I love you mommie.. however when I did I was in tears..
    God gave him to me for a reason.. a purpose...to love him.. to guide him and to teach him as well as others...
    PROUD MOTHER OF A SON WITH AUTISM

    June 10, 2010 at 22:18 | Report abuse | Reply
  42. Ashley

    As a sister of Alpha Xi Delta, I strongly support our philanthropy, Autism Speaks. It is so encouraging to read that researchers are coming closer to find a cure for Autism. Every time we work with our philanthropy, I am introduced to children with Autism and to their strong families. It is an honor to work with them. I pray that news such as this gives them strength during difficult times and pray for an end to this disorder.

    June 11, 2010 at 00:56 | Report abuse | Reply
  43. Michael

    The idea of vaccinations being debunked lies in the fact that more than likely the genome of every cell contains these CNV's. Given that many vaccinations, namely MMR in this case (recommended first vaccination at 12 mo, as per the American Academy of Pediatrics), are given after a tremendous number of cellular divisions- if autism were likely caused by these vaccinations, there would be a more mosaic display of the genome and thus the likelihood of capturing a cell whose genome shows this pattern would be reduced. In pure terms of the study, this would increase the p-value and reduce or completely eliminate the golden "statistically significant" result the study found. While, yes, this does not completely eliminate vaccines from the picture, this is a rather large factor in support of another cause.

    June 11, 2010 at 01:18 | Report abuse | Reply
  44. Fred

    If I were the parent of the insured but untreatable child due to 'life long illness'. I would tell the insurance company the should not cover diabetes, heart conditions, parkinsons, kidney disease, etc, because they are life long illnesses. Take they to court.

    June 11, 2010 at 04:58 | Report abuse | Reply
  45. Ro

    Now what else is going to cause autism... cancer? These articles just keep coming.

    June 11, 2010 at 05:09 | Report abuse | Reply
  46. Saskia

    I'm a PhD molecular biologist who was also an autism researcher. In 2003/2004, I was working with identical twins, triplets, and quadruplets, some of whom were autistic while others were not or who were at different places on the spectrum. I found some genes that were up-regulated in the siblings who were autistic through a blood test that took just a couple days to run. I could look at the gels produced from the blood and tell you where on the spectrum the siblings fell just by looking at the gel. No one was interested in continuing to fund my research, so I moved on to other things. I probably spent less than $50,000 on this work. Sequencing the genes and locating them in the children's genomes would not have even come close to the $9M that these researchers have spent and would have been accomplished years earlier.

    I'm glad that this massive and expensive research effort has apparently uncovered some genomic variants linked with autism. From my work, I've never found any support for a vaccine-autism link. It seemed like something for parents to grasp because it was a simple idea, just like the one that is now going around that genetically modified crops cause autism. Before people start throwing that one around, they should understand what genetically modified crops are and how a link to autism is even less likely than the purported vaccine-autism link.

    June 11, 2010 at 11:10 | Report abuse | Reply
    • Ross Coe

      SASKIA TELL US WHAT A VACCINE-AUTISM LINK IS. DESCRIBE IT. WHY NOT CONTACT AUTISM RESEARCH IN CALIFORNIA OR THOUGHTFUL HOUSE WITH YOUR RESEARCH KNOWLEDGE. LIKELY THE REASON YOU'RE SHUNNED IS BECAUSE THE POWERS THAT BE DON'T WANT THAT INFO LEAKED TO THE PUBLIC. SIMPLE SOLUTIONS LIKE VITAMIN THERAPY CAN'T BE PATENTED AND HELD FOR RANSOM.

      January 8, 2011 at 19:14 | Report abuse |
  47. Kristin

    Look, the simple fact is that autism was almost unheard of 30 years ago, and now 1 in 88 kids has some form of it. Something is going on. You may say that parents are just denying that they passed "faulty genes" onto their kids, but if that's the case, than why aren't there cases of autism like symptoms dating back for hundreds of years? The simple fact is, it may very well be caused by mutating genes or some other genetic factor, but something in our modern lives has made them turn on where they previously remained dormant. My father is kind of nerdy, scientific and obsessed with golf. If he had been born in 2001 instead of 1936, he may have been just the type of kid who would have been autistic. Luckily, he wasn't exposed to pesticides, farmed meats, growth hormones, tons of vaccines, BPA in plastics and mercury, but my son was. And my son is very autistic.

    June 11, 2010 at 12:37 | Report abuse | Reply
  48. asd moma n wife

    It is interesting that they are finally placing more emphesis on a possible genetic componet, however as the mother of a asd son and spouse of an asd husband I already knew this. My son is his fathers child and there is no doubt about it. My son however has had the benefit of earlier treatment and constant intervention whereas my husband was labeled as hyper in the 70's and his mother told to give him more to do...However genetics is not the only thing in play here, my son also has several other potential causes for his diagnosis and his doctors say that they all acutally play a role...including being OVER VACCINATED as an infant due to mistakes by the hospital, and his pediatrician at the time, a possible anoxic brain injury at birth due to cord entanglement and again at 7 weeks of age as the results of apnea and undiagnosed diabetes...just remember people ADVOCATE for your children, spouses, friends and other family members dont give up on them they are truly unique and special people with the most loving souls and hearts you will ever know, even if they have trouble showing you always know that they are in there and trying their best!

    June 12, 2010 at 14:52 | Report abuse | Reply
  49. Ter-ri

    I don't begin to understand ANY of this, but all I do know, is my 8 year old Grandson and the absolute love of my life has Aspberger's. He, along with the rest of his family have to deal with this diagnosis each & everyday of their lives. If you do NOT have a child who is on the spectrum, then you cannot possibly understand. I am not going to sit here and throw useless accusations around about what does & doesn't cause this disorder, simply because NO-ONE really knows and it's a waste of my precious time. I would rather be spending that time with my Grandson, loving him unconditionally and showing him that he is as "normal" as any other person in this world! All he wants, is to be treated like everyone else, and given the same chances in life. We wouldn't say to someone who has Diabeties, Parkinson's, Down Syndrome, etc., that they "can't", as we see them "do" and even excel at it each and everyday in this world. Yes it is very alarming to see the rate that this disorder is taking off so to speak, and yes I do agree more research is needed, BUT, I also think that people need to just stop and take a moment to enjoy what they have been given, which is a very special gift. I look at my Grandson as a child who has way more than children who are deemed "normal", and for that I am very thankful. It has been a very difficult road since he was about 18 months old and will continue to be for him & his family for the rest of their lives, but that doesn't mean we lay down and die becuase of it. We get up and face every day as we should, LIVING IT , and doing it to the best of our abilities. He is an exceptional child and he was given to us for a reason, and that's all I need to know!

    June 12, 2010 at 15:24 | Report abuse | Reply
  50. Dad in San Diego

    I support this research & am very pleased to see such national attention be given to ASD causes, treatments, etc. All research is useful and leads to an expansion of our horizons.

    I have two boys; A 2.5 year old and a 1.5 year old. My oldest son has not been diagnosed yet with ASD but he has been in early intervention therapy since he was under 2 years of age. He has many of the red flags you read about. Over the past few months, his progress has been slow but consistent, but frankly as another parent said, he is perfect to me. I would not change a single thing about him. Of course, I want the best for him and will sign him up for any scientifically proven therapy or treatment but being the parent of an autistic child is exhausting because he is not alone in this. We are all the face of autism, parents, brothers, sisters, uncles, grand parents, friends, all of us.

    They tell me my younger son is also at risk, but so what! He is doing great so far and as parents, we could easily let autism fears rule our lives. We did enough of that with the first one and we are done. Cherish the time you have with your kids, autistic or not. Support the research and public discourse on autism, but don't let it rule your lives.

    June 15, 2010 at 15:04 | Report abuse | Reply
    • Ross Coe

      DAD WHAT NATIONAL RESEARCH AND TREATMENT ARE YOU REFERRING TO? MOST TREATMENT AND RESEARCH AND APPEALS FOR THEM COMES FROM VICTIM'S PARENTS AND GRASSROOTS MOVEMENTS. GOV'T SIDES WITH PRODUCERS AND SIGN CONTRACTS THAT GUARANTEE PROTECTION FORM LAWSUITS. MULTI-NATIONAL CORPORATIONS OWN VACCINE PRODUCTION AND MEDIA OUTLETS. THE WORLD HEALTH ORGANIZATION IS FUNDED AND RUN BY BIG PHARMA, AND THIS MAFIA IS IN CONTROL.

      January 8, 2011 at 19:57 | Report abuse |
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Get a behind-the-scenes look at the latest stories from CNN Chief Medical Correspondent, Dr. Sanjay Gupta, Senior Medical Correspondent Elizabeth Cohen and the CNN Medical Unit producers. They'll share news and views on health and medical trends - info that will help you take better care of yourself and the people you love.