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Autism Genome Project Phase 2

Posted Jun 28 2010 12:00am

Half bridge By Katie Wright

The results of The Autism Genome Project’s Phase 2 results were published last week with much fanfare. Media outlets all over the world covered this story. Reporters titled their stories: “Incredible breakthrough,” “Amazing Discovery,” and “Putting the pieces of the puzzle together!” I am so tired of that last one.

After reading the study I came to a number of conclusions. Scientists are very excited about new technology enabling them to better study DNA. This technology has greatly improved their turn around time. These scientists are obviously very intelligent and hard working, exhibiting tremendous dedication to their belief (not mine) that autism is mainly a genetic disorder. My second conclusion is that a TREMENDOUS about of time, money and other resources have been invested in this project, probably more than any other autism study- ever. I would love to know the exact dollar amount, $100 million, more? The need to justify the use of such resources is inherently powerful on a conscious or unconscious level. My final conclusion is a question: How does finding 3% of the genes associated with one of probably dozens of variants stop this out of control epidemic and how will it help kids living today with autism?

Listen I am not saying I have all the answers or this is easy. Even if it meant finding a cure for autism I could not decipher a microarray. But unfortunately, many families feel that the authors of this study have confused hard work, great collaborative efforts and basic science discoveries with meaningful progress towards uncovering the causes of autism. I think recent discoveries that upwards of 25% of ASD kids have a mitochondrial /metabolic disorder, 50% have GI problems and an exponentially increasing number of ASD are regressing into the disorder are all more powerful discoveries than learning 3% of the genetic cause of possibly 1 of 100 variants or autism. However, comparatively zilch has been invested into these huge discoveries.

I have a theory called “Big Man, Big Machine.”  It is inherently more glamorous, exciting, clean and publisher friendly to conduct high tech driven gene research, develop new and exciting microarray technology and buy expensive MRI machinery, than actually interacting with autism families and learning about the biggest research gaps.  How many of these scientists want to learn about endless failed interventions, frightening and incessant diarrhea or life destroying regressions following adverse vaccination reactions. Because if, God forbid, that were to happen autism research $ would have to be spent on deciphering why the terminal uleium of so many kids look like craters on Mars, why Tylenol exacerbates adverse vaccine reactions, why children with families with a history of autoimmune disease are at the highest risk for autism and finally how the hell does a combination of multiple viruses and dozens of toxic (completely unresearched) adjuvants affect a babies’ central nervous system? Messy and controversial right, who needs that when we can bypass the needs of ASD kids altogether and stick with “Big Man, Big Machine” research. I don’t think these scientists intend understand how autism has truly morphed from a “highly heritable psychiatric disorder” to a form of environmentally triggered brain damage- much like a traumatic brain injury.

None of the genome data is showing us the mechanism that is causing the spontaneous mutations. What is turning on “these rare genetic variants?” Autism is endlessly heterogeneous. It isn’t like sickle cell anemia or cystic fibrous. There could easily be 100 variants of autism. 25 more years of sequencing genes still will not uncover the most important causation factors, nor will it halt autism’s relentless increase. I appreciate the authors’ candor when they said it might be decades until a drug is developed to treat some of the variants of autism. Unfortunately, we don’t have that kind of time. These are the study’s conclusions
1) Autism risk genes are rare variants in the genome

2) Some new autism genes were discovered. Genes involved with cell growth, communications and genes that respond to environmental stimuli. Hmmmmmmmm. Autism involves genes that are responsive to environmental stimuli…

3) The genes appear to cluster around a specific biochemical pathway in the brain. Drugs could possibly be developed to recover the function of these pathways.



How ironic that a day after the announcement of the autism genome breakthrough the New York Times had a front-page story entitled, “A Decade Later, Human Genome Project Yields Few New Clues.” In 2000 3 billion, that’s right billion, dollars was invested into this project. The public was promised genome research would “revolutionize the diagnosis, prevention and treatment of most diseases.” Since then scientists have discovered many “disease causing mutations…but with most diseases the findings have explained only a small part of the risk.” Like 3% of the risk? Scientists, unlike families, have been pleased with this research because it has produced fascinating new technology and new information on human genetics and biology. Back to the “Big Man, Big Machine” theory, the NYT writes that the genome “has inspired many powerful new technique such chip sequencing… and complex protein machinery!”

However, taxpayers were not paying 3 billion dollars in hopes of basic science discoveries and cool new technology, we were told this money was a direct investment in cures for diseases like ALS, cancer, Alzheimer’s and possibly autism. The genome research was supposed to “generate treatments…After 10 years of efforts, geneticists are almost back to square one in knowing where to look for roots of common diseases.” Genetic variants for heart disease, “turned out to have no value in forecasting the disease.” The genome study looked a huge sample of 19,000 women and discovered that family history was a better predictor of heart disease than genes. The autism project had just over a 1,000 subjects. So is this what we have to look forward to- more money, more inconclusive answers, no treatment or prevention breakthroughs?

Indeed autism families are frequently promised that once variants are identified drugs can be developed to combat the symptoms. However, it isn’t that simple, the NYT states, “the roots of genetic diseases may eventually be understood, but at this point there is no guarantee that treatments will follow. If each common disease is caused by a host of rare variants, it may not be susceptible to drugs.” Great, now what? There are probably 100 different variants of autism and so far we have uncovered 3% of one.

Autism genome researchers have admitted that their projects have been incredibly costly but promise the research will get cheaper as technology advances and will yield useful results once they are able to examine the genes of 30,000 people with ASD. Good grief, 30,0000 people! It took them 10 years to study and recruit 1,000 people! Is it just me, or does that sound insane? It reminds me of compulsive gamblers, “I’ll win it all back if you just lend more money!” “I know I am going to win, trust me, I just need more time and more money!”  The money dedicated to autism research is still so small and needs so great, can we afford such a gamble with our limited resources while 100s of treatment and environmental grants go unfunded? The autism genome project is like a Dad with 6 kids going out to buy a family car and coming home with a Lamborghini. Yes, the Lamborghini is a beautiful piece of machinery but can he afford it and is it the right car for his family?

The NYT comment pages on the recent genome reporting were extensive. Wow, I thought autism parents were frustrated and angry at the rate of scientific progress. Many of the comments read like they were written by family members of those suffering with Parkinson’s, Alzheimer’s, ALS…Like us they are stymied by the myopic focus on genes and the minimal investment in environmental research.

“Most cancers are not genetic. Instead they (are a result of) cell inflammation and damage to the system, resulting from toxins. Much like poison oak or poison ivy, the damage spreads. There is a triggering system…many cancers, Alzheimer’s, Parkinson’s disease are, rather than a disease, an injury, which inflammation has spread and grown because of incessant damage…(over) exposure to pesticides is often identical to symptoms of Alzheimer and Parkinson’s.”
One man noted that Alzheimer’s was identified in 1906 but we still have not figured out the cause and the cure.

“Alzheimer’s and Parkinson’s are not etymologically genetic in essence but triggered later in life by unknown catalytic immune (response), metabolic and hormonal mechanisms that climax into the onset of the disease. How is such a process amenable to a prenatal genetic basis?”
“The genome project operates under the notion that there is still once basic cause of disease…genetics, when it is becoming more and more evident that disease is caused by a confluence of factors: genes, environment and stressors.”

“Barring initial defects at the gene level (like Fragile X), epigenetic factors- the influence of all environmental factors, exerts the greatest influence on gene expression.”

We have developed better systems of early detection for both cancer and autism and there are some very helpful drugs that treat the symptoms of some cancers. However, all cancers are rising, especially childhood cancer. Autism isn’t just rising; it is blowing the roof off the house. Spending the majority our research money on genes and brain imaging is not getting us to where we need to be.  We need to even the playing fields and immediately prioritize research on meaningful environmental triggers (not parental age). For the sake of our kids we cannot be content with a bar set so low. Finding 3% of “autism genes” every 10 years isn’t good enough. The exponentially increasing rate of autism far exceeds the pace of scientific progress! If we continue like this soon everyone will either have cancer or autism, then what?

Katie Wright is a Contributing Editor for Age of Autism.

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