Alert the Media: More Genes that Don't Mean a Thing
By Anne Dachel
We recently got to hear about a new discovery from researchers looking for the genetic cause for autism. Most parents and probably a good part of the general population barely noticed. Reports on the genes responsible for autism are often in the news and are so out of touch with reality that they seem worthless.
As far as the average adult out there is concerned, the word “genetic” implies something kids are born with, something that runs in the family, something no one is really responsible for. However, if you’re like my husband and me, you can’t think of any relative from the last couple generations who had anything like autism. And it’s really hard to blame genes for something now afflicting one percent of children that no one ever heard about 25 years ago.
I think autism gene research is funded to make it look like someone is doing something. Doctors can tell parents that there is cutting edge science coming out. Be patient. The medical/scientific communities are working so hard to find answers. The most advanced medicine in the history of man is focused on autism.
The latest news is pretty typical. The American Academy of Pediatrics journal, Pediatrics, published it so all their pediatricians will know just what to say to parents.
There’s now a new test called chromosomal microarray analysis (CMA) which is designed to determine the genetic reason for autism.
It also helps fuel the myth that nothing’s really wrong and goes along with the absurd claim that all the autism everywhere is the result of better diagnosing and a shifting of labels.
As usual, ABC NEWS gave it high praise high praise in A Better Test for Finding Autism Genes? Study co-author Dr. David Miller from Boston Children’s said CMA is superior to other genetic testing for autism. Miller said it could be used for “every patient all over the country.”
Co-author Bai-Lin Wu of Harvard Medical School explained that even though the study can detect a genetic cause in only 7 percent of autistic children, it’s still critically important. Wu stated that because ‘there are a lot of kids being diagnosed with autism, [it’s] 7 percent of a very large number.’ Wu has done the math and since there are 4 million births a year with one percent of kids now diagnosed with autism, we’re talking about 40,000 new kids per year expected to have autism.
I guess the only thing doctors need to care about is finding the exact gene behind each case.
Researchers are hopeful that CMA testing could help detect even more genetic changes linked to autism. Dr. Leonard Rappaport from Boston Children’s assured everyone that all the parents who blame things like vaccines for their children’s autism, will find the answer in DNA testing.
Despite the fact that this research means nothing as far as most of the autistic children out there are concerned, it did receive coverage. There was however something new in the mix. A lot of the stories weren’t as enthusiastic as ABC NEWS:
LA TIMES March 14, 2010: A new genetic test for autism is a big improvement but still has a long way to go
“For the overwhelming majority of patients who take it, the test won’t turn up anything suspicious. That’s not necessarily surprising, considering that only about 15% of autism cases have a known genetic cause. But it certainly underscores the limitation of all of these types of tests, said Andy Shih, vice president for scientific affairs for Autism Speaks, which funds research on the disease.
"‘The utility of this test in actual clinical settings is not clear,’ Shih said. ‘Until we know more about the association between some of these variants and actual autism risk, it’s difficult to see how this could benefit the family now.’ ”
TIME MAGAZINE March 16, 2010: Toward a more effective genetic test for autism
Tiffany O'Callaghan reported, “It still won't provide any answers for the vast majority of people given the test.”
US NEWS March 15, 2010: Newer Genetic Test for Autism More Effective
Dr. Robert Marion from Children's Hospital at Montefiore Medical Center in New York City stated that ‘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.’
“If tests pinpoint an autism-related chromosomal abnormality in the child, the parents are then offered testing. If a parent is also found to have the abnormality, geneticists conclude that the couple is at higher risk of having a child with autism. (The precise risk depends on what the variant is.)
”But if the parents don't have the abnormality, geneticists conclude that the deletion or duplication happened by chance.”
“…that leaves 85 percent or more families with little explanation for the disorder, Marion said.
‘CMA is better, but it's not great,’ Marion said. ‘The vast majority of children who have autism have no identifiable genetic markers that will help in genetic counseling for future pregnancies. That is very frustrating.’ "
So why should anyone care about CMA?
It’s beginning to sound like media sources aren’t as excited as researchers are about the latest autism gene news. It’s about time someone asks all the well-credentialed experts out there when they’re going to have some reasonable explanation for why so many kids are disabled. Even the most unscientific among us knows genes can’t be behind the explosion in autism. The big question is: Why do scientists keep pretending that "gene discoveries" can offer real answers?
Medscape Today (from WebMD) covered CMA in New Gene Test Better at Detecting Autism Than Standard Genetic Testing March 16, 2010. The last line caught my attention:
“The Autism Consortium supported some of the testing done in the study.”
I had never heard of the Autism Consortium so I went to their website. There I read, “The Autism Consortium is an innovative collaboration of scientific and clinical leaders working with families to change the research paradigm and accelerate the search for answers.”
I was curious about who was involved in this organization. Under Board of Directors, I found, Peter Barrett, PhD Chairman, Board of Directors. He also serves on the boards of
Akela Pharma, Archemix Corp, Aureon Laboratories, Helicos BioSciences Corporation, InfaCare Pharmaceuticals, Ivrea Pharmaceuticals, Momenta Pharmaceuticals, Stromedix, Vitae Pharmaceuticals. Alan Crane, Vice Chair Founder and Chief Executive Officer, Cerulean Pharma Inc, Former CEO, Momenta Pharmaceuticals, Former Senior Vice President, Corporate Development, Millennium Pharmaceuticals. Edward Scolnick, MD Director,
Former President of Merck Research Laboratories
It’s predictable that the latest genetic findings would be funded, at least in part, by an organization with all kinds of pharmaceutical industry ties. Under the guise of finding answers to autism, more and more time is wasted on research specifically designed to DO NOTHING TO STOP THIS NIGHTMARE. Dr. Rappaport pointed out the true purpose on ABC NEWS when he said, ‘As we find diagnoses that cause ASD, people will worry less about things, such as immunizations.’ And they’re willing to look at anything to get away from the claim that an unchecked, unsafe vaccine program is responsible for wrecking havoc on our children.
It’s surprising that big name media sources like the LA TIMES, TIME MAGAZINE, and US NEWS aren’t joining ABC NEWS in singing the praises of this latest piece of garbage science. Maybe they’re just a little embarrassed that they never have anything of substance to report on autism.
I’d like to mention another story that appeared in the online news on March 21, 2010. The title was Study projects housing needs of autistic adults . It announced that 500,000 autistic children are headed for adulthood in this country. A half a million disabled Americans will shortly reach adulthood with nowhere to go.
This was a report on a collaborative effort in Arizona to accommodate the upcoming generation of affected adults.
“It is projected that as many as 500,000 autistic children will reach adulthood in the next 15 years. These adults will have varying levels of independence, and will outlive their parents. Where will they go? This is the question that a collaborative report by the Urban Land Institute Arizona (ULI), the Southwest Autism Research & Resource Center (SARRC), and Arizona State University (ASU) tries to answer.”
None of the scientists working on CMA research appeared to be at all worried about the epidemic number of children everywhere with autism. Their main purpose, funded by the vaccine makers, seems to be to continue the tired-out claim that autism is some mystery caused by as yet undiscovered genetic mutations. But as the Arizona story pointed out, time is running out for this junk science.
Anne Dachel is Media Editor for Age of Autism.
To Karen H. - You THINK that your sister was "born" autistic. Do you have any way of knowing if she was given Hep B at birth? If so, can you say without a mercury analysis how much mercury was in that dose? Can you say for sure that the baby was not vaccinated twice due to nurses error ? Do you know if your mother had dental work done during pregnancy or if she ate fish during pregnancy or nursing: Do you know if the vial of Hep B vaccine was left in the sun and became more poisonous due to that? Remember that Michael Wagnitz states that he once tested in his lab a vaccine dose that in fact contained over one thousand times the "safe level".Could your sisters vaccine have been from that lot?
By the way, can anyone on AOA give us this information: Are vaccine factories idiot proof or evil-proof ? I mean , how DID that 1000 times the safe level vaccine get on the market ?
Posted by: Cherry Sperlin Misra | May 04, 2010 at 01:44 PM
Most extraordinary- When even the scientists at the CDC now agree with us that autism must consist of a genetic factor and an environmental factor, all the big bucks go to studying the genetic factor. Elementary logic could tell you that finding and removing the environmental factor would be easier and could conceivably end autism altogether.
Paul Jaep has made one of the best points here today, by the way. A malady such as autism would never expand rapidly. It would vanish from the gene pool or become reduced to about one in 50 or a 100 thousand (IF it ever existed on a gene to begin with) Why aren't these so called scientists ashamed to show their ignorance of basic biology and genetics?
To some of those posting here- This is precisely why some of us do not spend a great deal of our time reading those "well-designed studies" that show no link between autism and vaccines. Just take a look at poor Dr. Verstraeten. He thought that he had done a study which showed that there should be further study of the question of a link to vaccines, but the CDC decided on his behalf that his study had shown clearly that there was no link. I wonder what he is thinking today, seeing that junk scientist Thorsen get 2 million dollars and all he got was a new job at Merck
Posted by: Cherry Sperlin Misra | May 04, 2010 at 01:28 PM
Karen,
If you prefer to have "formal" and polite conversations, that's great. Some of us, and by us I mean me, get exhausted by fake pleasentries and worrying about hurting adult feelings, or stepping on toes, or fearing they are offending someone anytime they disagree with their opinion. I do not temper my "passionate" language for fear of offending someone on an AoA message board, so you might have to get over some of that extreme sensitivity and being offended anytime someone disagrees with you. It's telling that you write two solid paragraphs over what being "attacked" means to you. I take none of this personally. We aren't calling each other bad names, we aren't saying bad things about each other families, we aren't threatening each other - so how in the world can you feel attacked? Sheesh. Now that I have wasted yet another 5 minutes on this, can we move on?
I agree with Twyla that it's like your last two posts sound nothing like your first two. It's almost as though two different people are writing, or else some major backtracking is going on.
You said, "I just said that I think teachers in the past would not have always known what these kids had." And I think teachers in the past did not wonder "what these kids had" because "these kids" did not HAVE anything wrong with them. LFA, HFA, Asperger's whatever. This is not a new and novel idea you are presenting, and in fact has been discussed to death on here in the past. It frustrates parents to see the same line repeated again and again. You weren't introducing any new idea that no one had thought of on here. The anti-biomeders use this line all the time to discredit the real rise in autism and the direct correlation to the increase in vaccines and our toxic enviornment.
It's a difference of opinion.
Posted by: JessicaF | March 30, 2010 at 07:21 PM
I saw several of the comments directed towards me as bordering on attacks, because of the language used in them. I've always tried to keep things polite and in a sort of formal tone, when I could have easily used far more passionate language. I don't blame you all for using passionate tones and such, it's to be expected, but I suppose I just took offence at some of the things that were directed at me. When I first posted here, I did see a lot of firm views, and I wrote that I hoped I wouldn't be 'attacked' for my own views because I was worried that I might be seen as disagreeing with some here, when I was only trying to put some other ideas out there. I largely do agree with a lot of what is said here, but I think other factors are important too, and I didn't see the other factors as getting much airtime.
I disagree that my last post seemed too different from my first few. I have never denied there is a huge increase in autism, nor have I ever implied that there is no epidemic rise, rather better diagnostic tools. It is true I believe diagnostic tools are better nowadays, but I do also believe there is a huge rise in autism levels. I never once said, nor do I feel I implied there wasn't a huge rise occuring.
I would not give a numerical figure on what I classify as a 'huge contributor', and I don't think it's fair for others to assume one either. Nobody can really say how much is 'huge'. It's a highly ambiguous term. Perhaps I used it wrongly. I do think there are significantly improved diagnostic tools today than there were in the past, and this has had an impact on the rates of people being diagnosed. I'm not saying it's the sole reason why autism rates are increasing, not at all. And I don't want that to be assumed. I know very well that it's not merely down to better diagnostic tools. I know that rates of autism are increasing, and I never said, nor do I feel I implied, that this wasn't the case.
I believe I can tell the difference between being attacked and being challenged. I'm also involved in politics, and there is a very fine line there! Also, I have been discussing autism with people my entire life, and I've battled with people who say those with autism cannot do anything at all, something I'm sure those here do not agree with. That's why I've always tried to use polite language and such when I've posted here, because I wouldn't like for someone to think I am being rude or attacking them. Challenging is fine, but when it's framed in hostile language, I think it starts to teeter on the border of an attack. I can handle being challenged, but I don't think attacks are appreciated by anyone here.
Also, I never said that LFA kids were being overlooked at the rate of 1 in 66 50 years ago. Never at all. I just said that I think teachers in the past would not have always known what these kids had. I did not mean for my posts to appear as if I had only had experience with HFA kids. I've worked and lived with children all over the spectrum, HFA, yes, but also a lot of non-verbal and highly self-injurious kids. One child I worked with had severe autism as well as Down's syndrome. He was a real challenge, absolutely, but he was gorgeous as well. So please do not think I am ignorant to what those with children with severe autism face on a daily basis, I have experienced this too. And I know it's incredibly tough, and I truly admire each of you.
Posted by: Karen H | March 29, 2010 at 09:50 PM
Karen,
I'm so sorry you feel that way. Sorry you feel attacked and that I was "rude." I think you were going to feel that way regardless from the get-go (as you plainly stated, "no attacks necessary!" on one of your first postings), so no wonder having a disagreement with someone you view as an attack.
Did you see "The Doctors" where Dr. Dreamy is screaming about JB "attacking" him when he was being challenged? It's never personal, but as the parent of a vaccine-injured child, again, it never takes much to escalate.
The idea that LFA kids were being overlooked at rates of 1 in 66 boys 50 years ago is preposterous, no matter how many paragraphs either of us write on an AoA message board. I incorrectly "assumed" you were talking about HFA kids as that's the only way I could see your argument going - you kept describing weird and quirky kids, kids who had ASD so mild it wasn't recognized, etc... maybe you can see how I would get that impression.
Take care.
Posted by: JessicaF | March 29, 2010 at 06:20 PM
Karen H, your last post sounds different from your first few. We are not misreading you. You said, "I think a huge contributor to the 'epidemic rise' in diagnoses of ASD over recent years is down to people being able to better recognise the signs." Huge contributor doesn't mean 5% or 24% but implies that there is not really an epidemic rise as most of the increase in diagnoses is due to better diagnosis. Althought you acknowledged there may be some increase, most of your posts describe why you believe autism was simply overlooked in the past. Our kids could not have been overlooked. But thanks for clarifying that you believe "There can be no denying there is a huge increase in rates of autism worldwide in recent years." That did not come through in your prior comments at all.
If we seem ready to attack (and really, I try just to argue rather than attack) keep in mind that it's pretty darn frustrating to be told over and over that there isn't really an increase in autism, and that oft repeated line forms a context in which your comments are received.
Posted by: Twyla | March 29, 2010 at 03:28 PM
From "across the pond":- To whom it may concern .....
My ASD "child" is now in their late teens. In 1993 my child joined an existing "cluster" in our small community which hasn't gone away as a "cluster" should do. The plain fact is that even the special needs teachers in our special needs schools had very little experience of ASD pupils, particularly able ones like mine. If you can't believe the parents' accounts then you should try asking special education teachers with more than twenty years' experience how they used to cope with children with ASD diagnoses in the 1980s.
Posted by: ElizaCassandra | March 29, 2010 at 05:10 AM
Good grief. I am being read rather wrongly, I feel. And I don't appreciate people telling me what experiences of views I have. For one thing, I don't only have experience with those with Asperger's or high functioning autism, JessicaF. I don't sit here and tell you what forms of autism those you encounter have, so don't tell me who I deal with. I have worked and lived with children who are non-verbal, who injure themselves out of frustration, who do not eat, who bang their heads, smear faeces, have uncontrollable and frightening tantrums, who have injured me myself in fits of rage and frustration etc etc...so please don't tell me that I have my head in the sand when it comes to those with severe autism. Please do not incorrectly assume my experiences.
I never once said anything along the lines of doctors needing TIME magazine to help diagnose people on the spectrum. This greater awareness is coming from increased numbers of those being diagnosed with autism, and then research into discovering just why. It may well be vaccines playing a part. I never said it wasn't. And I never said there wasn't an epidemic going on. Again, JessicaF, you are assuming what I say. And you are assuming rudely, unfairly, and incorrectly. There can be no denying there is a huge increase in rates of autism worldwide in recent years. I never once said there was not a huge increase. It seems I am being attacked for what I am not saying, which is rather uncalled for. More diagnoses are calling for more parents and professionals to seek answers for exactly why the numbers are rising as they are, and it's only fair for these answers to be sought. I am not criticising any of you in any way whatsoever. We don't know precisely what is causing this increase, we all have our own ideas, and vaccines are definitely one idea. And fair enough too. So more answers are trying to be ascertained via more research, which are leading to more articles being published about autism, about what is showing to account for this increase, what treatments are working, which are not, etc etc...and this leads to more awareness, which is leading to more parents being able to identify and recognise their childs bahaviour as potentially autistic, which is leading them to get a diagnosis, then to seek answers...it's a circular system.
I think all of you are doing an amazing job here. You obviously care about your children, as I do about my sister and all the children I have worked with. I see the frustration and the desperate search for answers when I work with families of children with autism, and I am so encouraged that you are all so passionate about helping your kids. All of your children are so incredibly lucky to have you as parents. I hope that together we can try to make life better for those in our lives with autism. Kia kaha - stay strong.
Posted by: Karen H | March 29, 2010 at 12:46 AM
Karen H, of course there were some people in the past who were not diagnosed with autism but who would be today. Of course there is heightened awareness of autism today compared with 30 or 50 years ago. But the question is, does the mean autism has not actually increased dramatically over the past 30 years? And the answer is, no!!!
What you are saying is used as a rationalization for people to say that there is not an autism epidemic, no emergency, no need to look at environmental or medical causes, just life as usual except that those "kids in classes who were seen as odd, but were assimilated into the general classroom environment" would get a diagnosis now. Karen H, as JessicaF described very well, we're not just talking about people whose autism is hard to notice. We're talking about people with severe developmental delay, major behavioral issues, major deficits in the ability to communicate.
You said, "In some cases it can be so mild that it is not identified, even by those closest to them. This is a fact." O.K., if that was the norm, autism would not be such a big problem.
"And these kids are likely the ones who slipped through the cracks and did not achieve as well as their neurotypical counterparts." We have a whole lot of kids these days who are not acheiving well, who have learning disabilities and/or behavioral issues and/or attention deficit disorder, but who are not diagnosed as autistic. Educational stats show that boys are doing worse at math and representing a lower percentage of advanced level students. There is evidence that boys do not detoxify toxins as well as girls; for example mercury generally affects males worse than females. This is a problem. These undiagnosed learning and behavior problems continue to occur today.
"At home, they may have appeared particularly difficult, or boisterous, or maybe especially quiet, or even mentally ill. So many may have been put into institutions fot these reasons." I don't think children get put into institutions for being boisterous or quiet.
Posted by: Twyla | March 28, 2010 at 09:28 PM
Okay Karen, let's try this a different way.
Autism is this big, shrieking spectrum. The children you describe who would have been overlooked as just odd, quirky, different, blah blah... are NOT the children I see today being diagnosed with autism.
You are describing super high-functioning children who could skate past the public school system and just be "weird" to everyone. That must be a lovely world. Sometimes, just sometimes, I feel like people who only have experience with HFA or Asperger's don't have a clue what the other end of the specrtum looks like.
My son's autism is nothing like that, never has been. He was in a room with 10 other non-verbal kindergarten age children. These kids would absolutely not have been overlooked by anyone 10, 20, 50 years ago, whatever. Who "overlooks" a non-verbal 6 year old? Who overlooks a feces-smearing 12 year old? Who overlooks a 4 year old that's had constipation every day since birth? Who overlooks a 2 year old pounding their ears in and beating their head on the wall?
You present a chicken/egg scenario. Did we all magically become so "aware" of autism because of the media, and doctors began diagnosing the shit out of children ... OR, did autism explode in front of our faces, and the media simply reports what American children look like today? You mean to tell me US doctors need TIME magazine to help them diagnose children correctly?
I don't buy a single friggin ounce of any of this. Besides, Karen, what's the point? Is there, or is there not an epidemic? My guess is you don't think so, we are all just so "aware" these days. That's cool, that's your opinion, like I have mine. No amount of your "extensive research" is going to change that. As you say, you are "qualified" to say what you are saying. As the parent of a vaccine-injured child, I am qualified to have my opinion too. Sorry it doesn't gel with yours.
Posted by: JessicaF | March 28, 2010 at 06:42 PM
With all due respect to everyone here, I have extensively researched the history of autism and its worldwide development over the years. I am a sibling, yes, but I have presented at conferences, written features for newpapers, and devoted my life to autism from when I discovered my sister was different when I was eight years old and she was five. I have compared rates of diagnoses of autism across the world, and so I think I am qualified to say what I am saying. It is true that 50 years ago (not 20, thank you, Jessica F), autism was nowhere near as well known or identified as it is now, and a lot of misdiagnoses did occur. Furthermore, not all of those misdiagnosed would have sought another diagnosis, so a lot today are still under the belief they have something else when they may in fact fall somewhere on the autism spectrum. And people on the autism spectrum are not always 'picked up' as having ASD. In come cases it can be so mild that it is not identified, even by those closest to them. This is a fact. There are people out there who have been misdiagnosed in the past due to autism not being as well known as it is today.
Of course there were not 'room after room of developmetally delayed children' in the past, but it is likely however that there were kids in classes who were seen as odd, but were assimilated into the general classroom environment, and their differences overshadowed and overlooked. And these kids are likely the ones who slipped through the cracks and did not achieve as well as their neurotypical counterparts. At home, they may have appeared particularly difficult, or boisterous, or maybe especially quiet, or even mentally ill. So many may have been put into institutions fot these reasons. This is not the parents fault. So I'm not attacking any of you. I know that all of you want the bes for your children and are fighting for the best, and that is amazing. I know how hard it can be, having a child with autism in your life. Living with my sister has given me an entirely different upbringing to that of my friends, and there have been a lot of really difficult times. I'm not saying it was parental negligence that in the past led to kids not being diagnosed, I am saying that information was not out there then, to the degree it is now.
Autism has been around for decades. I'm not saying it did not exist then to the degree it does now, but I am saying that increased knowledge and awareness of ASD is leading us to be able to better identify that our children are different, and then to be able to seek a diagnosis - all quicker and more efficiently than in the past.
Posted by: Karen H | March 28, 2010 at 06:01 PM
Esa,
I would like to address an additional example for an epigenetic effect of vaccination resulting in autism. We know from the Hannah Poling case that DHHS medical officials conceded that her regression due to mitochondrial dysfunction was the result of immune stimulation that exceeded metabolic reserve.
Vaccine developers use aluminum compounds as adjuvants specifically because they upregulate the immune response, with their focus on increasing immunoglobulin production. But they know they're not just upregulating immunoglobulin production, and until we investigate what they have unleashed when they unnaturally provoke increased translation of immune system proteins no one can make the claim that vaccines can't cause autism.
You note the genetic heritability of schizophrenia. Research delving into the mechanisms involved in gestational influenza viral infection and increased rates of schizophrenia in the offspring reveals that it is the mother's immune response to that viral infection, not the virus itself that is involved in producing the neurological disease that manifests as behavioral symptoms in the offspring. Knowing this, why are we vaccinating pregnant women?
PS We have don't have any known family/ancestors with autism or schizophrenia. My daughter is the first to exhibit such.
Posted by: Donna Kincanon | March 28, 2010 at 02:22 PM
Dr. Martha Herbert also said:
"In the face of all of these environmental changes, we need to consider a different role for genes than outright determination of our health. Genes related to autism may not so much cause autism as set some people up to have greater vulnerability to factors that can trigger autism. This is a model of 'gene-environment interaction', and it suits what we have learned to date better than a model of 'genetic determination'. Right now, we know of no genes that directly and inevitably cause autism. Even the genetic disorder Fragile X, which some people describe as a 'cause' of autism, is only associated with autism in 30 percent of cases, and therefore may be an extremely strong risk factor but still cannot be considered a 'cause'.
"This 'gene-environment interaction' model helps explain why it has been so hard to find 'genes for autism'. Some metabolic and signaling pathways are more involved with relating to the environment than others, and each such pathway involves many genes."
http://www.unlockingautism.org/atf/cf/%7B64d87213-a160-4224-8ed7-702ed372e4b1%7D/HARVARD%20RESEARCHER%20MARTHA%20HERBERT.PDF
For example, many people without autism have the MET gene mutation. In the Wikipedia article that Esa linked to, this is one of the "autism" genes listed. Per this article:
"The MET gene (MET receptor tyrosine kinase gene) linked to brain development, regulation of the immune system, and repair of the gastrointestinal system, has been linked to autism. This MET gene codes for a protein that relays signals that turn on a cell’s internal machinery. Impairing the receptor’s signaling interferes with neuron migration and disrupts neuronal growth in the cerebral cortex and similarly shrinks the cerebellum—abnormalities also seen in autism.
"It is also known to play a key role in both normal and abnormal development, such as cancer metastases (hence the name MET). A mutation of the gene, rendering it less active, has been found to be common amongst children with autism. Mutation in the MET gene demonstrably raises risk of autism by 2.27 times."
But, this MET gene variant is present in 47% of people, most of whom don't have autism. Per Discovery Magazine:
"'We’re beginning to understand that genetics is really about vulnerability,' says neuroscientist Pat Levitt, director of the Vanderbilt Kennedy Center for Research on Human Development. Levitt and his colleagues recently discovered that a common variant of a gene called MET doubles the risk of autism. The finding was widely regarded as a breakthrough because MET modulates the nervous system, gut, and immune system — just the kind of finding that matches up with the emerging new view of autism.
"'Everyone was focusing on genes expressed in the brain,' says Levitt, 'but this gene is important for repair of the intestine and immune function. And that’s really intriguing because a subset of autistic children have digestive and immune problems.' Equally interesting is that the gene variant occurs in 47 percent of the population — in other words, it is just one contributing factor, and it probably works in concert with other vulnerability genes. And finally, in a twist that intrigues other researchers, the activity of the gene is affected by what is known as oxidative stress — the kind of damage one sees with excessive exposure to toxins. 'As we identify other vulnerability genes like this,' says Levitt, who hopes to engineer a mouse model of this gene variant for study, 'we may be able to develop effective interventions for children.'
"In other provocative research, Jill James, director of the Autism Metabolic Genomics Laboratory at the Arkansas Children’s Hospital Research Institute (and professor of pediatrics at the University of Arkansas for Medical Sciences) has found that many children with autism do not make as much of a compound called glutathione as neurotypical children do. Glutathione is the cell’s most abundant antioxidant, and it is crucial for removing toxins. If cells lack sufficient antioxidants, they experience oxidative stress, which is often found with chronic inflammation..."
http://discovermagazine.com/2007/apr/autism-it2019s-not-just-in-the-head/article_view?b_start:int=2&-C
Posted by: Twyla | March 28, 2010 at 01:51 PM
Karen H, that is another "standard talking point" that we hear ad nauseum. And I'm not launching an "attack", but expressing aggravation at hearing this over and over again.
Epidemiologists at UC Davis did a large study where they looked at many factors and concluded that these other factors could only explain a minority of the increase in autism diagnosis. Improved diagnosis is one factor, but not a "huge contributor".
Diagnosis of mental retardation and mental illness has not fallen as would be expected if different diagnosis was a major factor.
School statistics show an alarming rise. See: http://www.fightingautism.org/idea/autism-prevalence-report.php
I was born over fifty years ago, and if any of my friends' siblings had either disappeared into institutions or grown up at home with autism I would have known.
Dr. Thomas Insel, Director of the NIMH, summed it up the personal experience of many professionals well when he said:
"My personal sense, just from my clinical experience... when I was in training, I never saw a child with autism. So I went through four years of training as a psychiatrist, including a rotation – a long one – through a year of child psychiatry, and never saw a case. I got interested in autism through work I was doing in basic science research, and I wanted to see children with autism. I couldn’t find them. This was in the mid-1980s, and I had to find a specialty clinic at Children’s Hospital in Washington, and I got to see my first case there. And now I wouldn’t have to go any further than the block where I live to see kids with autism today. So if that’s not a change, I don’t know what is. On a personal experience basis, I don’t think that’s unusual. Most people who I’ve trained with would say much the same thing."
See the link to Dr. Insel's comments (in which he also discusses autism statistical increases) at the bottom of the page here: http://www.ageofautism.com/2009/12/david-kirby-dr-insel-on-rising-asd-numbers-no-question-about-environmental-factors-.html
The children today with significant learning disabilities and/or full blown autism could not simply have been below the radar in prior decades. A rose by any other name would smell as sweet, and a person who is unable to talk, work, drive, or live independently (regardless of diagnosis or lack thereof) would need society's help, and would be obvious in school and as an adult, not falling below the radar due to lack of knowledge of autism.
You said, "And now, there are articles in every magazine and newspaper, there are university courses educating people in autism, there is so much more information and awareness emerging..." That is because now autism is so common. Formerly autism was quite rare.
Posted by: Twyla | March 28, 2010 at 01:24 PM
Karen H,
Go to any public school in the country and ask the teacher what the classrooms looked like before. Did they have room after room of developmentally delayed children? Were ALL of these children mis-labeled as metally retarded 50 years ago? Would my son, who can recite every holiday known to man and what date it falls on, be classified as "special ed" 20 years ago? Really? You think?
If all these kids were mis-diagnosed - where are they NOW? We still should have tens of thousands of adults running around with other labels. We don't.
Autism is being diagnosed more frequently because there are more children with autism. Asthma, allergies, ADD, etc... are all being diagnosed more frequently because there are more children with allergies, asthma, ADD, etc... Let's stop splitting hairs over this.
Posted by: JessicaF | March 28, 2010 at 08:52 AM
Esa,
Regarding Jeannette, I questioned her understanding of epigenetics for the very reason that she doesn't see the obvious environmental influence introduced through vaccination. You believe she made a rather reasonable argument--where? I stand behind Twyla's and Tim Kasemodel's responses to Jeannette's comments. When countless parents have the same experience of their child starting a downward trajectory, within "days after" a vaccination and not "days before" a vaccination I'd like to emphasize, it is indeed rational to question any temporal environmental influence.
You wrote, "because you see epigenetics and immediately think vaccines which I don't entirely understand why." In the context of what happened to my daughter, yes, I do think vaccines. I also think depakote (histone deacetylace inhibitor) when I see epigenetics. Again, temporal environmental influence and my daughter's reaction to it.
You wrote, "Can you point me to a paper that discusses how vaccines alter epigenetic status? Or explain the mechanism yourself?" I'll try to be as succinct as possible in summarizing the argument for vaccines altering epigenetic status. First, Jill James, I believe, was the researcher that identified that mercury (thimerosal) interferes with methionine synthase activity which leads to undermethylation, so b12 doesn't get methylated and folate ends up getting trapped. Some of these kids, especially those with the MTHFR (methylenetetrahydrofolate reductase)mutation can get really messed up. DNA does not get methylated.
One can also introduce a live virus vaccine such as the MMR that can induce intestinal inflammation, specifically ileal inflammation, whereby B12 isn't absorbed resulting in severe deficiency of B12, again interferring with DNA methylation.
This is an oversimplification of one of the studied mechanisms whereby vaccines can epigenetically induce DNA translational dysfunction resulting in multi-system metabolic dysfunction leading to the (behavioral) diagnosis of autism.
PS No one is looking at retroviral epigenetic effects of the attenuated or recombinant (mutated) viral vaccines, or are they?
Posted by: Donna Kincanon | March 28, 2010 at 01:25 AM
I think a huge contributor to the 'epidemic rise' in diagnoses of ASD over recent years is down to people being able to better recognise the signs. Note before you all jump down my throat that I said a 'huge' contributor, not the *sole* contributor. As little as fifty years ago, scores of people went undiagnosed, or were misdiagnosed with thigs like multiple personality disorder, or schizophrenia. And I'm extremely certain that there are potentially thousands of people worldwide whose behaviour were seen as 'odd', but yet were not given a diagnosis. Also as recently as fifty years ago health professionals still believed that autism was caused by mother's negligence and took children away from their mothers. Next to nothing was known about autism as little as fifty years ago. And now, there are articles in every magazine and newspaper, there are university courses educating people in autism, there is so much more information and awareness emerging. So I think that is leading to a lot of parents thinking 'hey, something isn't quite right here', and then seeking a diagnosis for their child, which is more attainable now because health professionals are starting to better know what autism is and what it looks like.
And note nowhere did I say it was the only contributor, nor have I denied that more people are being diagnosed, nor have I said anything about vaccines not playing a role. I'm just saying it's better known now than it has been previously. So attacks are not needed, nor deserved.
Posted by: Karen H | March 27, 2010 at 10:29 PM
Anyone noticing that "we've got to stop wasting time and money studying vaccines and autism" is turning into one of the standard talking points?
And it makes, like most of those standard talking points, zero sense.
Yes, millions have been spent on bad studies designed to deny any connection between vaccine and autism. What does that have to do with all these sick kids, who have not been studied?
Posted by: MinorityView | March 27, 2010 at 09:05 PM
Esa, please see Jen's comment @ March 25, 2010 at 09:52 AM
"Here is a well-accepted example from veterinary medicine. Collies are well-known for being genetically unable to metabolize the drug Ivermectin. They can have neurological signs including seizures and death when given a dose exceeding their ability to metabolize. Now, if every dog in the U.S. received that drug at a certain dose (say as a part of a wellness program, like vaccinations), then we might be led to believe that Collies have this weird genetic seizure disorder. Bad luck; the DNA caused your seizures, right? Wrong. In a world without the drug, they would be fine, just as these kids with these 'autism genes' have been fine for eons up until we started bombarding everyone with vaccines, antibiotics, pesticides, food additives, plastics, and mold toxins, just to name a few."
Posted by: Twyla | March 27, 2010 at 07:09 PM
Per Dr. Martha Herbert, M.D. Ph.D.:
"It is often said that autism is the most highly genetic of the neurobehavioral disorders, and that there is little or no evidence of environmental factors. However, observations about environmental factors relevant to autism go back decades, though they have been obscured in recent years by the dominance of a genetic focus. The view of autism as genetically determined is supported by observations of high “concordance” (matching autism diagnoses between identical twins) and high recurrence (increased chance of subsequent children having some kind
of autism spectrum disorder after an autistic child is born into a family). In addition, a claim that autism is predominantly genetic rests on an assumption that our environment is stable and/or that we are not affected by environmental changes.
"When we examine the frequently cited figure of a 90 percent “concordance rate” among identical twins (meaning that if one twin is autistic, there is a 90 percent chance that the other one will also be autistic), we can see that it overstates the case. Among identical twins, there is a 90 percent chance that if one twin is fully autistic, the other will have some autistic features, but only a 60 percent chance that the second twin will be fully autistic. While some researchers tend to focus on the 60 percent to make a case for genetic predisposition, we need to explain the 40 percent as well. To explain this nonconcordance we need to think about not just genes, but also the environment. Moreover, we also need to explain recent reports of high concordance among dizygotic (fraternal) twins, which suggest environmental rather than genetic factors.
"We also know that the number of people diagnosed with autism has skyrocketed, both in the U.S. and in other countries. The current figures are running ten times higher than they were 15 or 20 years ago. The twin concordance data just discussed may not even apply to the new cases, since the studies were done before these increases were observed. Some say that the increases are merely due to better awareness and diagnosis of autism, or expanded diagnostic criteria. However, we would need solid proof of this claim in order to dismiss the possibility that something new, different and harmful is going on with our children—and such proof does not exist. Autism increases point to a role for the environment, since genes don’t change that fast. The uncertainty and debate have not excluded the possibility that at least some portion of the increase in diagnoses is real. This gives us the responsibility to apply our serious and focused attention and resources to addressing what may be causing these alarming trends and what we can do about them."
http://www.unlockingautism.org/atf/cf/%7B64d87213-a160-4224-8ed7-702ed372e4b1%7D/HARVARD%20RESEARCHER%20MARTHA%20HERBERT.PDF
Posted by: Twyla | March 27, 2010 at 07:06 PM
Jeanette said, “No offense meant, but maybe to a small extent there is guilt and denial involved here... I can imagine how it would make us feel so much better if we can place blame on other people or other things.”
Huh? Oh, you mean like the people who want to believe that GENES are the only reason for their kids autism. Let's all blame the genes. That way, I am totally off the hook in looking for treatments for my child - hey, can't treat genes! I can just shrug and say my child just has bad genes, and not do a damn thing for them. I'll feed him crap and ignore his chronic GI pain, inflammation, numerous nutritional deficiencies and most likely a whole host of other physical symptoms. I'll get a non-verbal child who screams while he pushes on his abdomen a fucking Speech Therapist, because Speech Therapists can teach him to say "THIS HURTS" instead of screaming for hours. Right.
You've got the denial/guilt thing completely, hopelessly wrong.
Posted by: JessicaF | March 27, 2010 at 01:46 PM
Twyla, I think you've misunderstood what I meant by heritable. Please take a look at this page (specifically the section on twin studies) http://en.wikipedia.org/wiki/Heritability_of_autism. And yes, i know citing wikipedia is lame when there's actual scientific literature to be found, but wiki is free while many of the articles are not and i've read through it and it's actually a pretty good summary of the landmark studies. Also, relevant to this article, there's a list of the primary "autism genes" and a description of what they do and how they were discovered.
Posted by: Esa | March 27, 2010 at 12:15 PM
Donna, you wrote a very damning message about Jeannette's supposed misunderstanding of epigenetics, among other things. I happen to disagree and think she made a rather reasonable argument, but I don't want to fight about it. I just want to clear some things up about epigenetics if possible.
First, I don't think we can conclude from her single mention of the word that Jeanette does not understand it. You assume she does because you see epigenetics and immediately think vaccines, which I don't entirely understand why. Can you point me to a paper that discusses how vaccines alter epigenetic status? Or explain the mechanism yourself?
Second, I think what Jeannette was referring to was the fact that we may be having trouble finding "autism genes" because in many cases the genes themselves aren't mutated. Rather those with autism may have a "mutated" epigenetic status at those gene loci, so that a gene that should not be inactivated is or visa-versa. I find this topic really difficult to explain without pictures, so if you're interested in the phenomena, please look up studies about Angleman Syndrome, UPD (uniparental disomy), and UBEA3.
Posted by: Esa | March 27, 2010 at 12:08 PM
Jeanette said, “so much research money and resources have been wasted still trying to test the ‘vaccines cause autism’ idea, and ALL of them (save for that one fake study that has already been repeatedly proven wrong and rigged) have clearly shown that there is absolutely NO CONNECTION.” Jeanette, cite one study that showed there is absolutely no connection between vaccines and autism. Name one. There is no such study.
Jeanette also said, “No offense meant, but maybe to a small extent there is guilt and denial involved here... I can imagine how it would make us feel so much better if we can place blame on other people or other things.” If it was just our genes, that would be much less guilt inducing than to know that we chose to give our children an insane number of vaccines containing a variety of unstudied ingredients, resulting in harm to our beloved children.
And, “But maybe it will be a better use of everybody's time and efforts to instead figure out how to take care of affected people...” Believe me, we are caring for our affected children every day. This is not an either-or.
“And keep looking for real causes...” That’s exactly what we’re doing. And that’s exactly what we wish our government and mainstream medicine were doing.
“Let me just point out that this vaccine thing you're all still so eager to believe came from the same process (albeit a terribly flawed version), but now that it has been disproved, you all still want to believe it and damn every other scientific evidence?” I guess by that you mean that Dr. Wakefield’s study was flawed, and that we should be consistent in either damning all science or believing all science? In the first place, Dr. Wakefield’s study was not flawed. In the second place, you are not making any sense.
Karen H, yes most likely there are multiple causes. Autism is a spectrum defined by behaviors, and may have various etiologies. But vaccines are the prime suspect for the majority of the increase in autism that has occurred over the past 30 years. Yet vaccines are actually the most under-researched causal factor. A few flawed biased epidemiological studies, and that’s pretty much it.
See http://www.putchildrenfirst.org/index2.html and http://www.fourteenstudies.org/ranked.html
Esa said, “The fact of the matter is autism is one of the most heritable psychological disorders we know of, second only to schizophrenia.” Esa, the vast majority of children with autism today do not have parents or grandparents or greatgrandparents with autism. Yeah, there may be nerds in the family, but not full blown autism in prior generations.
What may well be heritable is the susceptibility to harm from environmental factors including vaccines.
Posted by: Twyla | March 27, 2010 at 03:00 AM
Karen H,
Like others, I do not believe vaccines are the only cause, but they are a cause for many of us, nonetheless.
Many of us parents who do believe there is an ASD/VAC connection have very good reasons for it, much better reasons than you may think.
Unlike epidemiologists looking at data, or geneticists looking into their computorized DNA bits, we parents look at our children.
We read about the methylation cycle, krebs cycle, and the role of mitochondria. We read about the effects of mercury in regards to in-vivo, in-vitro, murine (rat), primates and human tissue studies. We read about gene expression, gastrointestinal function and how the human brain works. The list goes on and on.
And then, we look at our children. Medical histories showing adverse reactions that went ignored time after time. Blood, urine and fecal tests are done. Diets, supplements and even pharacuetical protocols are tried and documented.
If we are lucky, we have the support of a great doctor or nurse practitioner, but many times we need to beg for the even most basic medical attention (because after all - they are beating themselves and lashing out becuse of the autism, not pain).
We have our own test subjects. We have our own extremely well documented data. I do not need anyone else to tell me what I see with my own eyes.
My son has urine tests showing he is "remarkably mercury toxic". Urine and fecal tests showing high levels of lead, aluminum and a boatload of other crap. Others in our family have had the same tests and they are fine.
We treat vaccine injury and he gets better. No genetic test paid by the bastards who did the damage is ever going to help my son. I pray that we may gain some enlightenment from genetics, but if Pharma is paying the bill, they only use research will provide is the next latest and greatest profitable product.
Posted by: Tim Kasemodel | March 26, 2010 at 11:01 PM
Karen H,
You opin that I am narrow-minded because I believe there is enough evidence to implicate vaccines in the very real epidemic level increase of autism spectrum disorders. First, let me make clear to you, I have never claimed vaccines are responsible for all cases of autism diagnoses. But, I do believe that they are responsible for the huge upsurge in ASD numbers, as well as some other childhood chronic diseases.
I'll agree with you that I am desperate in the sense that I am driven with a conviction born of watching more and more children needlessly suffer with no end in sight, and I will argue against the injustice of it all, and the lies that allow it to claim more victims.
There are too many intelligent, educated parents who have done their homework on this issue and trying to convince otherwise, those of us who understand how vaccines have played a part in disabling their children, by regurgitating what the MSM media has been spoon feeding you doesn't cut it here. You and Jeannette are never going to convince me that autism is just an unfortunate static genetic disease. The honest scientific evidence is on my side.
So tell me, since you believe so strongly that vaccines could not possibly cause autism, what is it about vaccines that, biologically speaking, convince you that they cannot induce a disease process that is diagnosed as autism? Considering all the immunological, neurological, gastrointestinal, endocrinological, evidence that currently exists for the disease process of autism, how is it vaccines don't have an effect and/or can't induce damage to these biological systems?
Posted by: Donna Kincanon | March 26, 2010 at 09:05 PM
Jeannette - thank you for your comment, which I support in its entirety. Donna - maybe you should be a bit more open-minded and realise that there are a lot of studies going on looking at every possibility in regards to causes of autism and that we cannot just hold on to the one belief that it is vaccines. Only subscribing to the one view is very narrow-minded and desperate. I do not mean to cause any offence, as Jeannette too did not, but I do think we all need to be open-minded and not fool ourselves into believing there is only one cause, and that one cause is vaccinations. That simply is not true. There are multiple causes.
Posted by: Karen H | March 26, 2010 at 07:32 PM
From "across the pond" to Jeannette and Esa (please read as applicable).
Please look at the official website of the State of California Department of Developmental Services and read the very long report identifying a 273% increase in the numbers of autists between 1988 and 1997 (more up-to-date reports are also available). N.B. Children under three years of age and those people with diagnoses of Asperger's Syndrome were not included in those numbers.
Please then read the Material Safety Data Sheet for the MMR II to be found on Merck's official website. It contains lists of primary and secondary adverse vaccination reactions - the secondary AVRs include encephalitis (brain inflammation) and encephalopathy (brain damage) - in the old days both conditions were found after severe cases of childhood infectious illnesses. N.B. google "Merck MMR vaccine" to find the PDF document.
Yes, there are genetic causes of autism (Fragile X is reportedly the commonest) but the enormous increase has to be down to environmental causation of whatever origin/s.
Posted by: ElizaCassandra | March 26, 2010 at 06:56 PM
Jeannette,
You don't know what you're talking about. You don't realize it but you have made it abundantly clear that you do not possess the knowledge required to understand and offer a cogent argument on the subject matter of autism causation. In your first paragraph you offer up epigenetics as an area of study that could contribute to our understanding of causation while at the same time denying vaccines as worthy of study. If you understood anything about epigenetics or vaccines you would know that vaccines work through epigenetic mechanisms.
Until you are able to discern real science from CYA tripe and media propaganda, your argument comes across as ignorant.
Posted by: Donna Kincanon | March 26, 2010 at 06:55 PM
I don't think anyone is claiming that it is only genetics that contributes to development of autism. For all of your information, there are a whole host of other studies that try to look into other factors that contribute to ASD, including epigenetics, and yes, vaccines. In fact, so much research money and resources have been wasted still trying to test the "vaccines cause autism" idea, and ALL of them (save for that one fake study that has already been repeatedly proven wrong and rigged) have clearly shown that there is absolutely NO CONNECTION. It's a big waste of resources, it's gotten ridiculous at this point.
One of the main reasons there seems to be an "explosion" of autism cases in past decades is that is has been poorly recognized before. There have been learning and social disabilities since recorded history existed, most of them now being categorized into ASD; people are just paying a lot more attention to it now.
No offense meant, but maybe to a small extent there is guilt and denial involved here. We can't help what our genes are and which ones we pass on to our kids, but I can imagine how it would make us feel so much better if we can place blame on other people or other things. It's hard to accept that some conditions happen that we have very little control over, and seems random (ex. "My kid didn't just come out 'different', he BECAME 'different', because so-and-so did it to him.").
It seems callous of me, but really, I sympathize. But maybe it will be a better use of everybody's time and efforts to instead figure out how to take care of affected people- kids and adults alike. And keep looking for real causes, instead of stubbornly holding on to unfounded claims (I meant vaccines, if that wasn't clear)- and stop ripping the heads of people who are just trying to figure this out so there's hope of having a real cure at some point.
People are so quick to blame science for everything, when they have benefited so much from it in most aspects of their lives, and from reading the comments here and the related articles, clearly don't have any idea what they're talking about (or reading about, even). Let me just point out that this vaccine thing you're all still so eager to believe came from the same process (albeit a terribly flawed version), but now that it has been disproved, you all still want to believe it and damn every other scientific evidence? Maybe we should ask why? Clearly it's not just the scientific process that you have a problem with, so which is it? You just choose what to believe? Based on what? There's significantly more kids that have received vaccinations and did not develop ASD, so it can't be from your interaction with other parents, and your experience with your own kid is an even smaller number to base your assumptions on.
Posted by: Jeannette | March 26, 2010 at 05:00 PM
All of this talk of an "Autism Gene" is ridiculous. There is no magic bullet, there is no single gene. The fact that 18% of cases were attributed to a known genetic cause is actually pretty good from the perspective of someone who is up to date on the science, considering most of the associated genes we have found are causal in ~1% of cases on their own. I know many of you think that answering 1% of cases at a time is a waste of resources, but that's the way this science is working because autism is not a simple genetic disorder like Huntington's. The fact of the matter is autism is one of the most heritable psychological disorders we know of, second only to schizophrenia. You may not like it, but that points to genetics as a starting point. Should we be pairing the genes we study with common environmental triggers? Probably. And if everyone stopped screaming about vaccines and Big Pharma long enough to have a rational discussion about it, respectable scientists might stop shying away from the taboo of working on environmental causes of autism and something would actually get done.
Posted by: Esa | March 26, 2010 at 04:28 PM
Very powerful comment Bendetta. By every empirical measurement, the environment is far cleaner today than it was when I was a kid (late 60’s). It is cleaner because the people demanded the wanton pollution stop, and Congress and state legislatures bent to the will of the people. Consider also that the old Soviet Union and Eastern Europe had much worse industrial pollution than we had in the 1960’s, yet had no autism epidemic.
The difference between then and now is the amount of pollution dumped directly into our kid’s bloodstreams. Unlike what is dumped in a river, now that we know the truth, we as individuals can control what they put in our kids. Word is getting out, people are listening. Look around and notice all the “H1N1 vaccines are here now!!” signs at the drug stores. They are desperate to get rid of this garbage; the public declined to participate and called them on their bullshit. The anger I harbor for what my son must endure is tempered knowing that others will be spared by the work done here.
Posted by: Jeff C. | March 26, 2010 at 04:10 PM
my daughter has been through extensive genetic testing. there are no genes responsible for her autism. 8 years. One person will have a certain gene and its automatically "THE GENE" Our kids are genetically predispositoned as with every common and uncommon disease. There vulerbitility is the fact that they can not excreet toxins. Hellooooooooo
Posted by: n | March 26, 2010 at 11:58 AM
The following is from my site ..Autism is caused by antibiotics downgrading gut flora [down the maternal line ]and therefore immunity ..read my site for an in-depth explanation, and how and why autism is linked with the Honey bee crisis
http://www.yeast-candida-infections-uk.co.uk/
The Genetic Cause. Myth
It won’t have escaped your attention that genes have been commonly implicated in any number of human frailties. Scientist have at various times declared themselves to have found the genes responsible for obesity, schizophrenia, homosexuality, criminality, violence even shoplifting. In fact we now know, almost nothing about us is so accommodatingly simple.
This is clearly a pity in one Important sense, for if you had individual genes that determined a propensity for diabetes or any other distinguishing trait it would be easy – comparatively easy, anyway – to isolate and manipulate them. Unfortunately, thirty-five thousand genes functioning independently is not nearly enough to produce the kind of physical complexity that makes a satisfactory human being. Genes therefore must co-operate. A few disorders- haemophilia, Huntington’s disease, cystic fibrosis, for example –are caused by lone dysfunctional genes, but as a rule disruptive genes are weeded out by natural selection long before they can become permanently troublesome to a species or population. So looking for a genetic cause in a condition with explosive growth such as autism is not just bad science it’s spectacularly bad science.
I use the present tense because dismayingly 75% of all available funding in looking for the cause[s] of autism is spent looking for a genetic involvement. It’s a disaster of unprecedented proportions. it tells us how adrift academia/doctors are in their understanding of autism and in disease progression in general
Posted by: Paul Jaep | March 26, 2010 at 05:55 AM
I don't expect this comment to be 'allowed' to be posted on this site, because I'm not necessarily agreeing with what the author of this article is saying. I believe there are various causes to autism. I don't think there is any one single cause. I believe there are different ages of on-set of ASD. My sister was born different. She didn't 'become' different after her vaccinations. My parents raised five children before her and knew what the 'normal' process of development was. My sister was different from the day she was born. So I believe she was born autistic. Furthermore, I don't believe that genetics play *no* part. I think there are different causes to different forms of autism, and that genetics may be one. We don't know for sure what exactly causes autism, so we can't rule anything out. And also, I don't believe autism is a disability. There are positive things to autism, and I think only promoting the negatives shows a defeatist attitude that will not be of any help to those we love who have autism.
Posted by: Karen H | March 25, 2010 at 11:43 PM
There is one way to have a genetic epidemic. A retrovirus incorporates its DNA into the host DNA. If it manages to incorporate into the gene line (sperm and egg) then the virus becomes part of the host species. MLV is like this, with most mice immune to the virus particles that mice now produce.
Perhaps we should be searching for a gene or a virus for willful ignorance endogenous to the CDC, NIH and AAP. We might be able to find a cure. There is hope!
Posted by: TexasDad | March 25, 2010 at 10:25 PM
What useable therapy or service did this study provide for those with autism? How many will have an improved diagnosis/outcome as a result of this study? How much of a reduction in total lifetime care costs does this study contribute? And by the way, how much did this study cost?
These are my new questions anytime an annoying family member or "friend" sends or tells me about the latest autism genetic studies.
Posted by: PhillyMom | March 25, 2010 at 07:30 PM
"...CMA identified deletions or duplications in 18.2% of the cohort, 7% of which were considered clinically significant, including variants associated with known genomic disorders..."
Okay, so this new, great, definitive test actually shows abnormality in 18% and less than half of those abnormalities are linked to ASD? This is science?
And what known genomic disorders are they talking about? What percentage of the abnormal results were clinically significant for autism as opposed to this other, 'known genomic disorder'?
In other words, did the researchers stack the deck for themselves? Was the study at all honest?
And does anyone know if the researchers have pharma connections, or if it's just that Autism Consortium that's blatantly biased?
Posted by: Amy, RN | March 25, 2010 at 05:46 PM
Alicia;
Some 45 years ago there was a place called Love Canal, where chemicals were just dumped into a canal and were oozzzzzzingg into basements causing a cancer cluster.
40 years ago there was rivers that could and did catch on fire and burn for days. Cars as well as factories produced smog so bad that people actually were passing out in the streets when a weather inversion caused the smog to stay in place. I went to California about then and I did not see the place all that week- that was 30 years ago and before catiletic converters that contains by the way pure platinum - the most expensive stuff in the world!
20 years ago - out here in Kentucky if you wanted water you dug a well, or found a spring, then you would buy a water pump and pump it into your house. Never mind that the underground stream could run in a curving fashion past your neighbor's septic tank, or someone killed a possum up stream to your spring. Now the state has made a heroic effort (I think) to make sure every one has as we call it city water. IT is tested regularly and they put it in the newspaper what they have found wrong with it.
10 years ago the EPA working closly with state health departments established within each county a Environmental Health Department. These people make sure that the old man that use to run a tractor sales place for years was caught, fined, and spent a lot of money to dig back up all the dirt where he had been burying batteries for years (lead leaching into the ground water). OR have a running gun fight with someone who was bringing copper down from Ohio and smelting it - thus belching bad stuff into our air. OR became involved in a battle that reminded me of a pure feud with a couple of dairy farmers and all their family members when they did not make a proper holding pond for animal waste.
Trash Dumps are now regulated, they have all kinds of measures from laying down solid clay to stop leaching into the ground water, to proper covering up the trash with proper layers of dirt, to adding vent pipes to allow escape of methane gas accumalations.
Coal fire electric factories have scrubbers inside their big smoke stakes that are changed often with great expense, and nothing comes out of them except CO2. Breath out and you have also put out some CO2 into the air (how dare you)!
Don't ever think that we are nastier, dirtier, environmental worse off now than back then. We are at our very best right now.
The only environemental trigger - the only one---- was that vaccine I kept telling the docs was making my kids sick and they kept telling me it was not.
Posted by: Benedetta | March 25, 2010 at 04:43 PM
> Genetics .. smetics! I grow tired of the genetic talk ... since not one reseacher or research study will accept my identical twins (one with ASD and one not) into a study! Seems we disprove their theory! I have great subjects to advance the study of autism and no one cares!
Posted by: Diane | March 25, 2010 at 03:01 PM
Sure, you can have genes that are set up for damage, the genes that come to mind are point of synpase, immunoglobulins, etc. BUT, what are we doing to them? Frying them with mercury, inserting human retroviruses into the population and putting multiple antigens into the bloodstream where they shouuldn't be found normally? Here is an example and thought pattern:
much research is going on into X.M.R.V.
check this out,
Friday, November 27, 2009
The Modus Operandi: Part II
In my previous post, I gave my theory explaining the female predominance of ME/CFS and fibromyalgia, in this post I will explain my theory behind the neurological symptoms of ME/CFS, FM, and Autism. My theory centers around the SYG1 membrane protein, which has been identified as a synaptic guidepost, directing neurons to connect to each other. The SYG1 protein is in the immunoglobulin superfamily, with an extracellular domain, a single transmembrane segment, and an intracellular loop. SYG1 binds to its receptor SYG2, which is also a member of the immunoglobulin superfamily. Ironically, SYG1 is most heavily expressed during fetal development and early childhood, and its expression greatly diminishes thereafter. In adulthood, it continues to be expressed in the limic region (which includes the hypothalamus), at neuromuscular junctions in skeletal muscle, and in arterial walls. When it is activated, it initiates selective synapse elination through the SCF-Ubiquitin ligase complex - when it works properly, SYG1 binds to SKR, inhibiting formation of the SCF complex (Skp1-cullin-F-Box complex), protecting nearby synapses.
It is my opinion that SYG1 dysregulation is directly correlated to symptoms noted in all three conditions: ME/CFS, FMS, and Autism. If you disrupt proper synapse formation in early childhood development, you almost certainly will end up with a developmental disability. It leads me to theorize as some have that XMRV is passed from mother to child through saliva, body fluids, breast milk, and quite possibly placental transmission. Likely the process of autism begins well before the first symptoms appear, and with XMRV screening could be reversed by early use of antiretrovirals, either by treating an infected mother, or the child. There has been some mention by Dr. Mikovits that vaccines could create the immune insult setting off autism, however I believe the risk is far, far smaller than the immune insult from getting sick - as you are only exposed to an antigen at a point in time, as opposed to receiving a continuous onslaught of viral antigen while the immune system clears the virus.
Another interesting point is that SYG1 is primarily expressed in slow sodium fibers in the peripheral nervous system at neuromuscular junctions- nerve fibers responsible for transmission of pain signals - leading to an amplified pain response. Substance P opens slow sodium channels, and closes potassium channels - and if you've got uncontrolled synapse formation, it may very well explain some of the observations made in FMS.
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well this I know , illness does lead to depressed thought processes,
http://www.sciencemag.org/cgi/content/abstract/326/5952/585
http://www.mridoc.com/cases/msk/002.html
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Posted by: kathy blanco | March 25, 2010 at 02:59 PM
I assume someday when Dr. Insel, Offit and Dr. Nancy find the "Autism gene" they will be on hand to perform a genetic test on television and then abort a little autism rascal...
If ADHD is genetic, about one in six will need to go down the same road...
Posted by: cmo | March 25, 2010 at 01:31 PM
Thanks, Anne, as always. I'm sure we'll be hearing more about this garbage soon.
Wasn't that last in-between-chromosome-kinda-defect found in 6% of children in a study (that seemed to have more Down syndrome children than children with autism-- or is that another bum gene study)? Are they going to keep inching the percentage points up until they round off to ten? And what is Shih talking about (over lunch with Alison Singer and Paul Offit) re this "15%" of children with autism having known genetic associations?
We've got murderers conducting a murder investigation. Oh where could the smoking gun be? Don't follow the smoke, of course. Don't frisk the guy yelling that the bullet ridden corpse was killed by voodoo astro beams.
I know exactly which of the quoted vaccine defenders "holds the gun" regarding my own children. A significant portion of my kids' injuries were from flu shots received...at Boston Children's Hospital.
Posted by: Gatogorra | March 25, 2010 at 01:06 PM
Jen (the veterinarian),
So glad you posted about the defect in collies! We have an Australian shepherd who it turns out has that MDR1 defect you spoke about. She was a perfect, smart, very social puppy. Then, at 3 months (right after her rabies vaccine and starting monthly heart worm medication) she developed all sorts of strange symptoms, which looked eerily familiar (dilated pupils, rapid breathing, temperature, irrational fears, severe aggression, her hind legs didn't work well, just to name a few). We didn't know what happened until someone told us to test for that defect. We almost had to put her down, she was so aggressive. We were just starting with DAN type treatments with our kids, so just for fun, I thought I'd see if it might work for the dog.. My husband thought I was crazy, but I switched the dog to a GF natural diet, added some B vitamins and magnesium (and continued behavioural training). To my surprise and relief, she improved dramatically! Today (6 years later), she is the best dog I've ever had (some stranger anxiety still, but nothing we can't handle). She can not tolerate most meds, or she starts to regress (she also has hip dysplasia, so we have done trial medications for pain, but her aggression returns. She's better just on minimal supplements).My frustration is that if you go to the Unv. of Washington website, there is a whole list of meds dogs like these should NOT receive. If there is a list of avoidable meds FOR DOGS, you'd think the least our medical community could do is also create a list for CHILDREN, for God's sake! How messed up is that?!
Posted by: Anne | March 25, 2010 at 11:40 AM
When it comes to genes and autism, they talk out of both sides of their mouths...
When it comes to Hannah Poling, they're quick to characterize her mito condition as a "rare genetic defect" but suddenly it's not rare when it comes to 1 in 110 kids being given the dx of autism nevermind the fact that our kids don't show any genetic abnornmalities...
the hole they are digging for themselves is getting deeper and deeper and one day it will cave in.
Posted by: sarah | March 25, 2010 at 11:05 AM
I don't mind them looking into genetics because perhaps eventually that could lead to identifying suceptibiity. What I mind is them ONLY studying genetics. I am mildly on The Spectrum and my son has Autism...yet he has NOT ONE of these Autism genes (I have not been tested).
I can speak from experience that GFCF diet and biomed work. My own functioning has vastly improved from these. Like a lot of our kids, I used to not like to eat and self limit. I was sooo thin. All that stopped the week I went GFCF. I wasn't eating because those foods were making me sick and I didn't realize it. They are in EVERYTHING. SO, this begs the question for me....if in my experience I have found that the DAN docs are right about GFCF then I must conclude that the theories on which they base it upon is true? None of these questions matter to those with an agenda that all Autism must be genes only, or to those who hold being on The Spectrum as some badge of identity that must be protected.
Posted by: name | March 25, 2010 at 10:34 AM
I have heard that it could start with a gene, but that has to be other factors that trigger it to come out. (In example my son.... had minimal brain dameage that when combined with the vaccinations, could have possible triggered the gene.) So it might be genetic based, but enviromentally triggered. & given the state of our envirement compared to 25 years ago.. there are ALOT more triggers now. Does that make sense?
Posted by: Alicia Ree Buchanan | March 25, 2010 at 10:32 AM
I am so sick of the way "genetics" is misused these days. As a veterinarian, I can tell you the easiest way to calm down someone who can't understand why a certain illness happened, is to just tell them "it's genetic." They really have no understanding of what that means, but the average person will just interpret that to mean "it's beyond our control; it just happens." Hogwash. And don't think for a second that "genetics" isn't used exactly for that reason... to calm people down.
When did "genetics" come to mean that your DNA just places that disease in your body? It is rarely that simple! If it were that simple, then those genetic diseases should be present at birth. What about the probability that THERE IS SOMETHING ELSE CONTRIBUTING? If we know that some autistic kids have a genetic deficiency of detoxification (and we do), I'm sorry but that does NOT let vaccines or other toxins off the hook!
Here is a well-accepted example from veterinary medicine. Collies are well-known for being genetically unable to metabolize the drug Ivermectin. They can have neurological signs including seizures and death when given a dose exceeding their ability to metabolize. Now, if every dog in the U.S. received that drug at a certain dose (say as a part of a wellness program, like vaccinations), then we might be led to believe that Collies have this weird genetic seizure disorder. Bad luck; the DNA caused your seizures, right? Wrong. In a world without the drug, they would be fine, just as these kids with these "autism genes" have been fine for eons up until we started bombarding everyone with vaccines, antibiotics, pesticides, food additives, plastics, and mold toxins, just to name a few.
It's well past time we started educating one another on what is really meant by "genetic causes." Even having taken higher-level genetics courses does not make me feel like I have anything more than a superficial grasp on the subject. As with much of life, when you make assumptions about something as complex as biological systems, you're so often going to be wrong. Another topic that is widely overlooked is epigenetics... the way in which non-genetic (internal or external) factors can determine how/if certain genes are expressed. But the studies don't have to address that, because the public will never call "shenanigans" on them.
Posted by: Jen | March 25, 2010 at 09:52 AM
Oh I cannot wait for useless commercial genetic tests to begin, it will be such fun to watch the litigations that will follow. Pass the popcorn.
Posted by: Natasa | March 25, 2010 at 09:45 AM
In the latest issue of JAMA (the Journal of the American Medical Association), Thomas Insel accused the medical community of "having become a 'culture of influence,' in which drug industry marketing goals have pervaded the practice of psychiatry."
http://carlatpsychiatry.blogspot.com/2010/03/dr-tom-insel-nimh-chief-scolds.html
I wonder if that also applies to what's happening with autism research.
Anne Dachel
Media
Posted by: Anne McElroy Dachel | March 25, 2010 at 09:45 AM
Can't genetic tests and vax/environmental cause go hand in hand?
Finding a good test for susceptibility of injury could be a huge victory...
Posted by: Sister | March 25, 2010 at 09:34 AM
It would be sooo much cheaper to fund a study involving a provocation challenge and a urinalasis, then chelation and HBOT, but that would mean admitting these children can't properly excrete metals on their own. Even stem cells are showing promise, what has this world come to?
Posted by: Jacqueline | March 25, 2010 at 09:32 AM
Bring it on: it would be really interesting to have genetic testing that actually reveals something. Then, there will be the "before" picture done with the heel pricks at birth. Then there will be the "after" results, showing how much was changed at the genetic level after vaccines were given. Because epigenetics tell us that the environmental "triggers" will control which sites on the DNA map get activated or deactivated. Why haven't these genetic researchers run before and after vaccines genetic testing on rodents yet? And don't give me some bullcrap about not having the right "mouse model" either. People are not isolated rodents bred in a cage to only elicit certain responses and the government doesn't screen people before they vaccinate. I'd like to see what it does to a "general" average normal everyday population of ferrets or rabbits or monkeys, or politicians even.
Posted by: Jenny | March 25, 2010 at 09:32 AM
God, genetics... I have a photo of Mia's chromosomes from 1998. Since then, our insurance companies have paid for tens of thousands of dollars in additional genetics tests for all three of my girls. Not one has come up "abnormal" or yielded a scintilla of usable information. One bill from The Clevelend Clinic alone was $30,000. Imagine what I could have done for the girls if Aetna (our company that year) had paid a $30K bill for therapy or biomed? Genetics makes people who have given up or never had any hope to begin with an excuse to roll merrily along.
Posted by: Stagmom | March 25, 2010 at 08:23 AM
The fully paid up Big Pharma 'Players' creating the mysterious Gene 'Snow Job' need to seriously consider that if their hypothesis is correct it may require yet another cover up. Could it be that those genetic mutations, if ever found, were caused by vaccinations given to parents during their childhood.
Digging holes can be a dangerous as they will eventually bury themselves.
Posted by: dave roberts | March 25, 2010 at 08:17 AM
I like getting up early in the morning and reading excellent pieces like this one-upsetting, yes, but great reporting, Thanks, Anne. Being stupid years ago when Joshua was first diagnosed, we were involved in a genetic study with the medical school in Columbia, SC.... I can only imagine what a waste of time and money that was--we never even heard back results from them-all those arm jabs for nothing. Maurine
Posted by: Maurine Meleck | March 25, 2010 at 08:09 AM
My son had this chromosomal microarray analysis (CMA)test done at Childrens Hospital Boston. He was screened for 50-60 genetic condtions including Fragile X. Autism was even listed as one of the conditions tested for.
His results according to the lab report:
"Normal"
Testifying before the Senate on August 9, 2009 Dr. Thomas Insel said:
"Scientists are looking for genetic and environmental causes across the autism spectrum. In the past 2 years, genetic research has proven especially informative, as more than 50 variations in the genome, alone or in combination, have been linked to ASD. Importantly, several new, rare mutations have been discovered. Along with known genetic disorders that cause ASD, such as Fragile X and Rett Syndrome, these new mutations may collectively account for 10 to 15% of ASD cases"
So if genes are only account for 10-15% of ASD cases, what's causing the other 85% to 90%??
Posted by: sarah | March 25, 2010 at 08:05 AM