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Scherer of Nature Autism Gene Study Fails to Disclose Pharma Funding As Competing Interest

Glaxo Senior author in Nature autism-gene study fails to disclose funding by MMR manufacturer GlaxoSmithKline as a competing interest.

By John Stone

Prof Stephen Scherer who is the senior author of the autism gene study launched in Nature last week holds the ‘GlaxoSmithKline-CIHR Pathfinder Chair in Genetics and Genomics at the Hospital for Sick Children and University of Toronto.  The title used to be ‘GlaxoSmithKline-CIHR Endowed Chair”, GSK being one of the defendant companies in the UK MMR litigation.

While this information was tucked away in the paper under acknowledgements it did not appear as a competing interest for Prof Scherer, and was not mentioned in the paper’s extensive media publicity. The study boasts a remarkable 176 authors, including Prof Sir Michael Rutter and Prof Eric Fombonne who have given evidence for the vaccine manufacturers, and the US Department of Justice in vaccine litigation, but the disclosures of competing interests amount to barely three lines and do not mention any of these things:

 “Competing Financial Interests: L.J. Bierut and J.P. Rice are inventors on the patent “Markers for Addiction” (US 20070258898) covering the use of certain SNPs in determining the diagnosis, prognosis and treatment of addiction. L.J. Bierut served as a consultant for Pfizer Inc. in 2008.”

While Prof Scherer’s departmental colleague Dalila Pinto is listed as lead author of the paper Scherer is listed as ‘correspondence author’ and he identifies himself as ‘senior author’ in Kevin Leitch’s LeftBrain/RightBrain blog. The 176 authors undoubtedly escaped having to make more detailed disclosures of competing interest by publishing in Nature rather than one of the journals now signatory to the International Committee of Medical Journal Editors ‘Uniform Requirements for Manuscripts’. Under ICMJE rules it is hard to see how Prof Scherer could have failed to disclose the association with GSK as a competing interest, and this is serious issue for Nature.

The extraordinary ballyhoo which has accompanied the publication of this study cannot hide the tenuous and inconclusive nature of its findings after decades of gene research into autism, or the reality of a continuing gravy train on a journey to nowhere. Of an earlier publication in 2007 Mark Blaxill wrote (HERE):

“In summary, the AGPC findings provide the strongest support to date for the case to shift autism research resources away from deterministic heritability research and towards environmental investigations, including investigation of gene-environment interactions. Despite their weak evidence and unsupported claims, the study authors have not adequately faced the implications of three decades of failure in the gene transmission hypothesis of autism causation. Instead, they continue to promote new and speculative genetic research projects.

“These authors are influenced by their institutional and commercial interests and their advocacy should be considered in that light. It is time to move on to more productive activities and focus research on the areas that can more rapidly help individuals with autism and prevent future cases through removal of environmental triggers.”

And our children just go on suffering.
 
John Stone is UK Editor for Age of Autism.
 
 

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as every geneticist can tell you, reducing the genetic diversity of a population is the path of maximum idiocy.
--------------------------------
I assure you the goals of genetics and the agenda the Nazis are one and the same.

Genetics research is simply Hitler by committee. Sticking a needle into the womb of a pregnant woman to suck out the DNA of an unborn child is a dead giveaway.

Don't let the UK GMC catch you doing that. They'll go bonkers, right?

Let's make this dirt simple.

176 people were involved in performing a study.

-------------------------
Well...that's a pretty sizable lynch mob.

Irony is not coincidental. Not that the regular court apparently has synchronized their Cedillo response to the sudden appearance of a 176-author strong pre-fabricated genetics paper.

The overwhelming does play a peculiar tune once again.

The impression most people will get is the solidarity of the medical profession. Of course, the PR firms behind the vaccine manufacturing drug company strategy know this.

A united front is the key if all vaccine court cases with the spritz of Autism are going to stay in a perpetual holding pattern.

No statue of limitations until when? Then, of course, Wakefield has publicly stated he has work over the next five to ten years.

Terms like no fault, cooperative justice, and close calls go to the victims?

Milo;
Thanks for explaining it to me. That is was only the one! And even then it really was not serious and all.

But since I am paranoid (for very good, sound, logical reasons) one is more than enough, and paranoid me wonders what else is there under the rocks that just did not get turned over into the light of day. Just saying!

Milos

A lot of dirt is flying today and not much of it is coming from me.

I believe I was correct to point out that Prof Scherer would be expected to disclose the endowment of his chair by GSK under ICMJE rules - I don't say anything about his integrity I just think it ought to be declared.

But I also pointed to other conflicts I knew about such as Profs Fombonne and Rutter acting in vaccine-autism cases, and Rutter giving expert evidence against Drs Wakefield, Walker-Smith and Murch, and they were other examples of things I thought ought to have been declared - and I did remark that the whole thing seemed remarkably free of disclosures given 176 authors.

I have a view that this science is a red-herring: it hasn't produced anything useful or persuasive in three decades - it doesn't look like it has now - and I am entitled to hold it.

@John Stone

Let's make this dirt simple.

176 people were involved in performing a study. Two have minor conflicts, which they have stated. For the rest of them, you have not identified any conflicts of interest.

One of the senior authors holds a chair which is named after GSK. He receives no funds from GSK. He did not state a conflict of interest, since he has none.

You have written a paper in which you try very hard to imply that the study is somehow bogus, irrelevant, or tainted because of this. You directly imply that 176 scientists sold their integrity and followed a false genetic trail (instead of data that is so clear, any number of laypeople can see it from a mile away), therefore endangering countless children.

They did all of this because one of them has a chair named after a pharma company.

This is not right. You can argue with me about my opinion of percentage of autism that is genetic, but that is a separate subject. The main point is that you attack people who work on Autism Genome based on a completely imaginary conflict of interest.

Furthermore, ICMJE rules would not require that Scherer report imaginary conflicts of interest. No rules do. Under ICMJE rules, he still wouldn't have to report the name of his position, as it is completely irrelevant.

(I give a donation to university. University names a chair in my honor. Twenty years later, the professor who holds that chair has to report that as a conflict on interest, even though he has nothing to do with me? I'm sorry, but that is untenable.)

You can dance around this issue all you want, but your conduct in this article is just simply wrong.

As for usefulness, this study is of critical importance for figuring out autism. Discovering the pathways involved is the only way to any treatment. Your opinion may differ, and you are free to write that - go ahead, write an article on how this study is useless (in your opinion). But don't make up nonexistent conflicts of interest, and use that to imply corruption of people you don't even know.

Finally, as for weight of my criticism, this is a blog comment open to the public. If you don't want to attach any weight to it, then don't. I don't share my information lightly, but Milos is my real name, and it is rare enough among neuroscientists that you can find me rather easily if you want to. You can, again, interpret that as you will.

@Benedetta
John Stone has written an article in which he attacks authors of a study based on the fact that one (out of 176) holds a chair that is named after a pharma company. That does not help your kid, his kid, or anyone's kid.

@Media Scholar
All geneticist you have ever known call Hitler a genius? Wow. For some reason, I don't believe you have ever spoken to a geneticist.

In the real world, Hitler is reviled by everyone. And genetically, he was far from a genius - as every geneticist can tell you, reducing the genetic diversity of a population is the path of maximum idiocy.

@Natasa
The 20% number is solid. For an overview, see Benvenuto et al. Int J Pediatr. 2009.

At least another 20% has to be genetic, from heritability numbers. This is an absolute minimum, otherwise the 90% heritability pattern (which is also solid) could not hold.

Thank you for your assessment of the place of my brain. I have read the studies. Please note that I said I don't work on autism - I didn't say I'm not interested in it. I have read the studies. They do not support the vaccine hypothesis (the *pathology* doesn't either, but that is another matter).

I have to repeat, though: I did not come here to argue the percentages or causes of autism. I came to point out the errors in the article which are completely independent.

If you want genetics research this "genetics" study and all the rest are just another part of the CDC anti-litigation bloc of Autism research.

Those who say "prove it" actually mean "just try to convince me."

Thanks Lorene for that detailed point by point dissection of the "breakthrough study". Exactly what I was trying to say - when you look closely at those gene linkage studies, there is nothing but thin air.

And yes, isn't that 'amusing' the way they pluck those imaginary figures of "10-15% have been established as having genetic basis". Established by whom? When? Was any of those “established linkages” ever replicated?

Then comes Milos and like-minded well-meaning professionals (with self-admitted lack of interest in autism sic!) who decide to inflate that imaginary percentage to 20%. Or why not 40%. While we are at it lets round it up at 50%.

These fairy tale figures crack me up you know Milos, my son is 6 and I already have to be careful about making things up as my statements are subject to his scrutiny :) it seems genetic science can say whatever to whoever, their house of cards never blown at.

Milos it may well be that your heart is in the right place. Your brain isn't though. Do a service to your profession, which is starting to take on a role of a village idiot. Before you inflate your comedy 20-40% figure any further do stop and think. As in employ some critical thinking. You may remember it from secondary school. Get those fabulous studies you think you are citing, read them one by one, read some more (get the follow up studies as well, you will be surprised what they reveal, or not) put those figures to paper and think what they might be saying. Or not saying!

Probably the most overhyped and mis-spun non-result in the whole of history. Why accuse authors of corruption when their own paper betrays the fact that they have failed to find any major cause of autism (indeed any cause of real autism at all)... http://www.autismcauses.info/2010/06/copy-number-variations-are-only.html

PS I would like to see all this money given to Lorene Amet: then something worthwhile would happen.

Milos

1) I have already pointed out one criterion on which Prof Scherer - and as you further point out members - of his department should have disclosed this: even if GSK's political and financial involvement with the department was substantially in the past they would still be beneficiaries of corporate largesse, but we don't know that it is over at all. Your theory (unsubstantiated) is that they just wanted their name advertised (in which case Prof Scherer would be a walking advertisement).

2) The disclosures are woefully incomplete on the paper - as I pointed out at the beginning - including authors that have given evidence on behalf of pharmaceuatical companies in autism cases. 176 authors, two lines of disclosures: this is not credible.

3) This would not have been possible under ICMJE rules.

4) You made a false claim before about more than 40% of autism being genetic, which you can't substantiate and is altogether fanciful - and now don't defend it.

5) If there were infinite resources I might support this study but I don't think it is finding anything useful or promising and it doesn't offer anything to help the children - it is simply a speculative activity which wastes resources and diverts public attention:

http://www.telegraph.co.uk/science/steve-jones/5189941/One-gene-will-not-reveal-all-lifes-secrets.html

6) I don't give a lot of weight to people like you who parade their expertise, integrity and their false anger but cannot actually say who they are.

Haven't we exhausted the idea that genes have anything to do with everything? Genes are the biggest over-hyped political crapola there is.

If you bump your head in a low doorway there's a kook who will claim it's genetic.

We really need to get beyond this insane proposition that genetic research will answer the questions. We already know what causes Autism.

We tend to forget the big things. Big things like obfuscating the VSD database once attention was drawn to it. What is the CDC and the quack geneticists afraid of?

Look at the millions and millions of dollars it takes to keep the scientific data away from those who need it the most.

The vaccine manufacturing drug companies have known all along that vaccines are the noblest cause of the neurological degeneration prominent in this epidemic of Autism.

The very minute Congress gave the OK to proliferate the number of doses of vaccines that have Thimerosal in them the surveillance of negative neurological outcomes commenced.

Genetics is just one more thing in a bag full of dirty tricks the vaccine manufacturing drug companies are using to buy their way out of the moral and ethical responsibility to compensate families of vaccine-injured children.

As an old man once said, "the devil has a whole bag of tricks he can play on you, but he only needs one thing to ruin your whole day."

Red hair. Buck teeth. Pig nose. All those are hereditary traits.

Genetics research is a racket. It's too expensive, the tests and most geneticists are insensible and frankly not what any child needs.

Genetics will never do anything, ever. All the geneticists I've ever known call Hitler a genius.

Milos
We are all paranoid!

Milos;
I know we have all said this to scientist, every doctor and medical person we meet and we get the same reaction from them as we did from you.

But here we go again.

I witnessed my son and daughter react to a vaccine. High fevers, passing out, Kawasakis, (no heart murmur, vaccine, next office visit heart murmur) few months pass not heart murmur - vaccine - office visit heart murmur, vaccine a few hours later a stroke.

We witness this or something similiar and we get this dumb look from our children's peditrician of disbelief, their mouths open and stuff spouts out that was taught in school. Some of us do know about school we have heard it ourselves, but experience trumps education every time. Yet, we get no where with any medical profession because education trumps experience. We can not really believe they are that dumb, so we begin to think why won't they believe us??? Why won't they listen to what happened to us? Why won't they look at my injuried child if for not other reason a medical oddity and maybe show some curiousity about it. We don't get that either, so we ask why?

John Stone is going to or already has institutionlized his child! Do you know that heart break?

Just because you are paranoid does not mean there is not someone out to get you.

John,

1) There is no association between Professor Scherer and GSK. He receives no money from them. He is not beholden to them. He has nothing to declare.

2) I don't know if you were confused, but your entire article attempts to insinuate that because one senior author has an endowed chair which has GSK in its name, the study is somehow corrupted, or was done for nefarious purposes.

Let me be perfectly blunt.

Like many other scientists, I have chosen a poorly-paid academic career over pharma industry (I have had offers that would triple my pay). This is not that uncommon of a choice: independence and meaning over money.

If I had an inkling - a barest inkling - that a pharma company was endangering the lives of children, I would fire from all available barrels. Pretty much all of my colleagues would do the same.

Yet, you and many people on this blog believe (unshakeably) that we are all either blind idiots, or we are laughing all the way to the bank with bags of pharma money over our shoulders.

This is deeply insulting.

You have, in this article, based on nothing but the NAME of an ENDOWED CHAIR, besmirched the reputation of over a hundred hard working, dedicated people, who are spending their lives trying to figure out the roots of the disease that affects so many.

You should support this study. Ok, fine, unlike anyone in the field you believe that vaccines cause autism. You could interpret the study as "identifying genes that make children susceptible to vaccine injury", and try to make sense of results in that light.

But no. Instead you have chosen to insult the entire field. Again.

3) No single CNV correlation is dramatic, this is true. But data like this is sorely needed to make sense of what makes children vulnerable, and can help us predict where to focus our future efforts.

4) Known genetic syndromes (many of them metabolic) account firmly for 20% of autism cases. There is high confidence for at least another 20%, just based on heritability studies alone. This is before we even start talking about copy number variants.

But this is beside the point. The main point is #2 above.

Milos

1) ICMJE rules state:

"Please report any personal, professional, political, institutional, religious, or other associations that a reasonable reader would want to know about in relation to the submitted work."

2) There are no grounds for claiming I have confused the lead author who I recognise is listed as Pinto with Scherer who is correspondance author and senior/a senior author as established in his interview on LeftBrain/RightBrain.

3) There may be a correlation here but it isn't dramatic and it remains to be seen how significant it is - correlation is not cause, and in the past all these genetic associations have rapidly evaporated.

4) You don't say how you came by your 40% figure. Are you saying that at least 40% of cases are purely determined by heredity? You certainly couldn't justify that from the present study, even optimistically.

The paper states that a little over 4% of ASD cases have rare CNV (copy number variants) in a group of 996 ASD cases, whereas a little over 2% of controls have them in a group of 1287 controls. They have looked at three primary measures of CNV burdens: the number of CNVs per individuals, the estimated CNV sizes and the number of genes affected by CNVs. No differences are found in the former two. By contrast it is stated there is a significant increase in the number of genes intersected by rare CNV in ASD cases when focusing on gene-containing segments.

When they look at 103 ASD candidate genes they found no statistical difference in the percentages of samples with rare CNVs between ASD and controls. When they narrow their list of genes to 36 genes, claimed to be implicated as disease gene in ASD, they find a statistical difference between the 2 groups. In other words, they have to select both individuals and gene areas to obtain a statistical difference between ASD and controls.

More importantly still, we are only talking overall at most of 2% of the ASD sample who have these CNVs above that of the control group (2% is about the difference between ASD and control). This is an excessively low percentage.

I note that in the introduction, it is stated that “Some 5-15% of individuals with an ASD have an identifiable genetic aetiology corresponding to known single-gene disorders (for example, fragile X syndrome) and chromosomal rearrangement (for example, maternal duplication of 15q11-q13). There is no reference attached to this statement. This statement is totally at odd with our own observations in a group of 400 ASD children. In this sample, 3 children only, that is less than 1% have a known genetic condition. One has Fragile X, one has NF-1 and the other has a partial trisomy of chromosome 15. Note that in the mid 80s about 8% of the ASD population had a known mutation with Fragile X. The representation of this genetic condition in the current ASD population is much reduced. This indicates that the increased cases of autism are not related to better diagnosis of “genetic ASD”. Indeed, if this was the case, we would still have 8% about of the current ASD population presenting with Fragile X. What it tells us, is that we have a new population of children currently being diagnosed as ASD with additional novel environmental triggers implicated. Admittedly these children might not have ASD, but something else presenting as ASD.

Somewhere else in the paper, it is stated “ Single-occurrence CNV deletions had increased rates in ASD cases over controls, indicating that some could be pathogenic”. Such statement is a pure assumption, only when a genetic change is being recreated in an animal model, and a pathology consistent to that of autism is caused, can a direct implication be demonstrated. Any geneticist knows it is the case. An association does not prove causality.

It is also stated that 5.7% of ASD cases have at least one de novo CNV, meaning it was not present in the parents, but somehow there is no tentative explanation as to why that may be. Higher rate of mutation relates to an environmental causality, should this be a concern? I do not imply that these mutations are related to their autism, but surely, if the genetic material in some ASD children presents with higher levels of de novo changes, we have to be concerned about the implications behind this.

Natasa:

The figure of genetic causes of autism is, conservatively, at least 40%, probably far higher. No gene causes autism: each gene causes a trait (or, more accurately, moves a trait in a certain direction). A combination of traits moved in a complex ways produce the set of symptoms we call autism spectrum disorder. See the work of Simon Baron-Cohen for some excellent data.

The point of my message, however, is that:

a) Scherer has no conflict of interest and does not receive money from GSK.

b) Even if all authors had conflicts of interest, that doesn't invalidate the data, which are not an interpretation but a direct correlation, independently verifiable.

c) The author of this text appears not to know what is the difference between the lead author and the senior author(s) of a paper.

Disclosure: I am a neurobiologist. I don't work on vaccines, have no ties to pharma, and I don't work on autism either. I ran into this text and took the time to point out some major errors. Take it as you will.

Thanks John! And thank you Natasa! Couldn't have said it better myself. These "huge gene breakthroughs" are not breakthroughs in the least. The public has to be confused considering every 3 or so months the "New" mysterious genes in autism have been found (always different than the ones previously reported on) but then in a quick mention at the end of the report it's mentioned they've only found them in tiny percentages of the ASD population and the reports always fail to mention that the same mutations, deletions, duplications, etc are found in much of the control cohorts as well. Smoke and mirrors....

I'm not an expert in genetics but am a parent in the trenches of cystic fibrosis. I don't know much about the history of finding the gene but do know the following. The gene mutation for cystic fibrosis was discovered in 1989. It was anticipated that a cure would be found within the next 10 years. Twenty years later what do we know? No cure and they've now found that there are over 1200 mutations of the gene with the majority of people having the DF508. They suspect the different mutations can have an effect on severity but don't know this for sure and can't predict anything from the mutations.

There is a lot of talk now about modifier genes. They know that siblings, therefore having the same mutations, can be affected in very different ways. Since they have the same gene mutations it is believed that other genes are modifying the presentation of the disease.

There is an exciting drug in the pipeline that has shown exciting results in those with a less common mutation - it should be on the market soon. There is a second drug being tested that is showing promise for those carrying the most common mutation. These are the drugs developed based on the mechanics of the mutations. There have been other drugs developed but they are looking at treating the symptoms - which these drugs have their place and are needed too.

Of course, we are excited to see promising treatments on the horizon but we are not anywhere near a cure. Better drugs are being pursued thanks to the knowledge of the gene mutation but it is far from cut and dried. Even though it has been twenty years, new mutations are being discovered every year and we know that the mutations don't all operate in exactly the same way. Several years ago I was told that they fall into one of six different classes.

Long story short. Knowing the gene doesn't provide a quick or easy route to correcting the problem. Knowing the gene does allow for testing and diagnoses in most cases of cystic fibrosis (unless you have two very unusual genes or an unidentified gene). Finding the gene doesn't answer all the questions as our bodies have many genes that contribute to its functions (ie -many genes are involved in respiration).

Even with genetic testing being available, still no signs of an epidemic of cystic fibrosis. The cystic fibrosis community hasn't put all of their eggs in one basket. They are continuting to develop treatments to make the disease more managable by better treating symptoms AND looking at drugs to address the mechanics of the mutation. If they were only researching the genes, then the life expectancy of these kids would still be the toddler years versus approximately 37 years.

Even if an "autism" gene could be discovered it doesn't provide a magic wand that will magically cure all the ills in one grand swoop. That is what I don't understand. Yes, there could be a genetic tendancy - weak ability to detox the body or something - but there have to be treatments in place to address the "symptoms".

Shelly

To Esa, Milos etc:

of oourse genetics has a lot to do with autism. In the same way that genetics has a lot to do with sneezing!! Or anything else in a living being for that matter. Every time you sneeze it is the reflection of genetically predetermined reaction to your requirement. Every blink of an eye is genetically predetermined reaction to whatever.

Most of those gene studies listed on pubmed that you mention are not worth the paper they are written on, or the screen pixels. Not in terms of not finding sequences etc but in terms that they do not contribute much to to anything, really.

What those genetic "breakthrough" studies often fail to disclose in their press release, and often have buried deep inside their papers in a very muddled-hard-to-find way, is that those mutations are ALWAYS found in a LARGE number of healthy children/adults.

So two things really:

1. NOT ONE of those 'genetic' linkage studies has come across any single gene, or any combination of genes, that are not present in healthy population. Meaning that not one of those mutations or those combinations “causes” autism.
2. even if it did, it would account for a minute percentage of affected individuals


This latest sharade of a study, the Pinto/Sherer one, found the “breakthrough” CNVs in a whopping 5.something percent of ASD children. You tell me in what percentages did those CNVs pop in the healthy controls? Please?! Then let us know the difference, and how it could account for anything approaching useful.


Btw that often quoted line of 10-15% of autism has a genetic basis is based on nothing really and are a self-perpetuating myth. The percentages are plucked from thin air. If we consider monogenetic disorders such as fragileX, Downs Syndrome etc, those put together will account for much much less than even 5% percent of cases today.


The Emperor has no clothes. He has been naked all along. Those who fund these expensive useless studies seem to be completely blind.

Well, people - who cannot identify themselves - are certainly getting hot and bothered.

When you have a 176 signatories and several different teams it may not be right to expect traditional listing. Traditionally the position of "the senior author" comes at the end of the list - Scherer is somewhere near the end of the list, has identified himself as "senior author" and is "correspondence author", and is probably higher up the faculty than Pinto.

It is evident that in being appointed to a GSK chair that Scherer has received patronage from GSK - whether in the past or currently, and we can reasonably ask for more information.

The Guardian's running blog doesn't seem to be willing to report this altough it has certainly been on google news.

http://www.guardian.co.uk/science/2010/jun/09/genetics-autism-story-tracker?showallcomments=true

The order of authors listed on scientific publications is almost always in decreasing order of intellectual contribution to the project.

The first author on this paper is the one who had the most say in the design and execution of this project and probably the person who spent the most hours slaving at the bench with a micropippette.

In most big labs (including the one I work in) the PI (the faculty member who runs the lab--listed as "senior author") is often so busy with overseeing all of his other projects that his role is almost purely advisory. For example, in the last paper I published, my PI has ABSOLUTELY NO CLUE what it's about--simply because my project is so peripherally related to most of the other research going on in the lab. In spite of this, he is still listed as the "senior author" on that paper.

The money from the GSK endowment is controlled by Sherer and his University...not GSK. GSK has absolutely NO SAY in what sort of research that money is spent on--it is in the hands of the department and faculty to decide that.

There is a lot of good, hard, evidence supporting a combination of genetic and environmental factors as the major underlying causative agents of autism spectrum disorders. Simply go to pubmed central and do a search for "autism genetics" and you will literally find hundreds of peer-reviewed papers supporting a genetic cause.

For a more condensed summary of the research that's been done so far visit the OMIM page on autism (link provided below)

http://www.ncbi.nlm.nih.gov/omim/209850

Prof Scherer holds an endowed chair: at some point in the past, GSK (for prestige reasons) gave money to the university to create a funded chair.

This means that Prof Scherer is not getting money from GSK, is not connected to GSK, and has no conflict of interest.

Lead author for the paper (Pinto) is the person who had the most to do with the design and execution of the study. Senior author is usually the major overseer of all people on the project. There is no mistake there.

Besides, the genetic data is good. Do you really think that people can just make up DNA sequence correlations, and not be called on it?

"Lexington Herald Leader" had an article from the "New York Times" by Nicholas Wade.

"A decade later, gene map yields few new cures"
The hunam genome was complete 10 years ago, and medicine has yet to see any large benefits. The goal of Human Genome Project was to sequence three billion chemical units in the gentic instruction trying to find the genetic roots of diseaes,and then developing treatments. With the human genome sequence finished they set about trying to find the variants that increase the risk of disease. Our beloved National Institues of Health embraced the idea for a clever shortcut since it was far too expensive to sequence patients' whole genomes. They looked at the genome where many people have a variant DNA unit. But nothing is being found. Ha!

But, still the National Institue of Health with a stiff upper lip, is not giving up. Now they are going to see if any of the variants are more common in patients with a given diseae than in healthy people. These studies required large numbers of patients and cost several million dollars apiece! So there is our money.

The question often raised when I was majoring in biology was which is more important the environment or the genes. Looks like it is the environment.

Hey Esa, the study itself did a pretty good job of invalidating much of a genetic link. Previous studies point to around 10% of autism cases as having a genetic basis and that's about it. Get over it.

They are desperate. How pathetic. Truly embarassed for these sell outs.

For all of you wanting to move to Canada (just a few days ago)... not so fast.

Also, you wouldn't know it from the press up here that there were a gazillion authors on the Nature paper: http://www.nature.com/nature/journal/vaop/ncurrent/full/nature09146.html

Up here - it's basically, the team was led by Scherer and Szatmari (with Pinto as lead author):

From Univ. of Toronto:
http://www.news.utoronto.ca/health-and-medicine/new-genetic-findings-expected-to-accelerate-autism-testing-and-development.html/20574

From McMaster University:
http://dailynews.mcmaster.ca/story.cfm?id=6775

From The Globe and Mail: http://www.theglobeandmail.com/news/national/autism-caused-by-wide-array-of-rare-gene-changes-study/article1597861/

From The Star:
http://www.parentcentral.ca/parent/familyhealth/article/821063--toronto-study-finds-genetic-links-to-autism

From The Hamilton Spectator: http://www.thespec.com/News/Local/article/785705

I just went to Medical News Today, these two aren't mentioned:
http://www.medicalnewstoday.com/articles/191404.php

Nor on ScienceDaily:
http://www.sciencedaily.com/releases/2010/06/100609131637.htm

Interesting.

Oh, and never forget this is the land of Fombonne as well - oh joy.

Re: Dalila Pinto (U. of Toronto) being the "first author", if you go to the Nature article link http://www.nature.com/nature/journal/vaop/ncurrent/full/nature09146.html - there are two others right after her also non-alphabetical - Alistair T. Pagnamenta (U. of Oxford) & Lambertus Klei (U. of Pittsburgh) - after that it is strictly alphabetical.

Pinto's the grad student and/or post doc writing this (and Pagnamenta and Klei obviously had a big hand in writing/analyzing the data as well). Note: I love the fact that Szatmari doesn't have a graduate student intimately involved.

This is Scherer's staff:
http://www.tcag.ca/staff.html

In this situation he'll direct - but each graduate student/post doc/whatever will be the lead author of whatever paper. His lab will have many, many papers going at once, in one of the following forms: proposed, studied, in draft form, being submitted, being reviewed, being edited again (to address any questions of the reviewers), being published. He'll have a hand in writing/editing anything coming out of his lab (as he is directing it) - but, the particular graduate student/post doc whose area of research is - this or that - will be the lead author. This is standard - and not a mystery. If he did anything else (took top authorship), it would be unseemly. This is one of the few perks a grad student/post doc have - and it is a way of acknowledging their contribution - as they did the bulk of the analysis (under direction).

Wait... so one author's link to a pharm company in a paper with 176 authors invalidates evidence of any genetic link? Are you serious? So genetics have nothing to do with autism at all? Really?

Also: "The 176 authors undoubtedly escaped having to make more detailed disclosures of competing interest by publishing in Nature" So... publishing in one of the most respected scientific journals had nothing to do with the quality of the research and was just a plot to avoid releasing all potential COIs

Theresa O. - My thoughts exactly.

From the Reuters write-up of this study, it seems evident that genetic research is a blind alley: "'Here's where it gets tricky -- every child showed a different disturbance in a different gene,' said Dr. Stanley Nelson from the University of California Los Angeles." (http://www.reuters.com/article/idUSTRE6584E520100609)

Saying that something has "complex genetic roots" isn't exactly truthful, if the results of the study really showed that no two children in the study had the same genetic variation.

Geri Dawson, by the way, is listed as a co-author of the paper.

Thanks for this info John , it seems conflicts of interest are not paramount in their worries , just like the conflict of interests of certain members of the panel at the GMC who struck off Dr Wakefield , this is an unfair society in which we live , and know journalists are reporting that Autistic children do indeed have bowel conditions , well excuse me but Dr Wakefield has been saying this for year,s

I need an expert geneticist to tell me the history of discovering the gene for sickle cell anemia for example, and a host of other inherited maladies. It seems to me that these are a very finite discovery and any pregnancy can be "genetically tested" through a sample of amniotic fluid for any number of possible inherited conditions. Finding a gene for autism should be just as "easy" as how we found those others, shouldn't it? Anyone know more about those?

And if finding a gene for autism does not line up with the history of how we found the link to other conditions, then at what point can we abandon the search?

Way to go, John! You nailed him!

When asked about the Nature study Dr. Geri Dawson Chief Science Officer, Autism Speaks said. "We do believe that environmental factors play a role in autism. It is important as we continue with our science to learn how environmental factors interact with the genes we have identified here."

Put your money where your mouth is beeatch.

Not so much as an "Oops!" from Mr. Scherer?

Thank you, John. From reading Callous Disregard, it appears that Rutter is a real piece of work. Extraordinary hypocrisy. We know all about Fombonne. There's no real surprise here-- the "nature" of the study seemed to scream of the typical agenda-- but it's always reassuring to see that they can't always cover their trails so well.

Im increasingly interested in the human DNA present in the Rubella that was presented by Dr Deisher at the INSAR meeting....

could the human DNA from the aborted fetus be a factor on the gene variations? Im becoming more convinced because the DNA present from vial to vial is so GREATLY varied- that would explain why "some" kids are more susceptible than others...

her studies so far arent funded by pharma =)

"no useful influence that GSK could exert on the chair"... really? "generally speaking" if they want any more funding to do research, they know what side their bread is buttered on .. come on now ...

I am embarrased that such a stupid study has come from Canada. So John, is this Nature journal sketch?

176 authors????!!!!!! I guess Dr. Offit was involved too. Unbelievable. What a pile of bullshit. Is it just me, and here I must disclose that I do not have a genetics background, but if no two individuals with autism would have the same "genetic" variations (as one of the 176 authors in this humble study mentioned), then how is autism so "genetic?" Huh? Huh? Anyone?

Wow, that's a lot of "disease genes"! Why have they become such a problem suddenly? A special ed art teacher I talked to a while ago speculated that it was mixing of genes between populations that was causing the autism epidemic. Is that where this is going?

She also mentioned that every autistic kid she'd ever taught had bowel problems.

Werdna

You must think we were all born yesterday: Scherer owes his position to GSK and is one of the principal authors, if not the principal author.

Why were the media not told this, and while we are about it, who are you?

Are we surprised John - surely this is just another example of the protectionist stance GSK and other purveyors of these damaging products, that are ruining the lives and futures of countless generations of children, are having to maintain to prevent their future global bankruptcy both financial and moral?

It is just typical that conflicts of interest are only considered relevant when they are perceived to be on behalf of patients and not the drug companies.
Well done John for bringing this to everyone's attention.

It's not listed as a competing interest probably because generally speaking it's not. The funding is already awarded there is no useful influence that GSK could exert on the chair.

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