A Dad's Journey

Father of Autistic Twins Speaks Out

Browsing Posts in autism incidence

Three groups control 99% of the money, and novel studies have a hard time getting funding.

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We still don’t know what autism is, despite decades of research and billions of dollars spent. We don’t know what causes it or how to treat it. This lack of progress is partly the result of structural deficiencies in how autism research is funded. Fortunately, lessons from financial markets and the venture-capital industry can help solve these problems and accelerate the pace of discovery—for autism and perhaps other medical conditions.

Consider recent research by Robert Naviaux, a professor at the University of California, San Diego. Earlier this year he announced results from a clinical trial involving 10 boys with autism. Half were given the drug suramin and showed significantly improved language and social behavior. The study lends further support to Dr. Naviaux’s theory that a treatable metabolic condition may underlie autism. This promising lead is welcome news, but it reinforces my view that the scientific understanding of autism is years, possibly decades, behind where it would be if the handful of groups that control virtually all funding for autism research had taken a more-diversified approach.

In finance, markets that are deep—made up of many investors with varying opinions—are more efficient and better at price discovery. Similarly in science, many “investors” funding multiple approaches in parallel should lead to more-rapid advances. Therein lies the problem. In the U.S. just three organizations control 99% of all funding for biomedical research on autism: the federal government (primarily the National Institutes of Health); Autism Speaks (which does commendable work raising awareness); and a large foundation funded by a family. Everyone else collectively makes up less than 1% of funding.

These three organizations almost exclusively support research that aligns with the conventional view of autism as primarily a genetic disorder of brain wiring. The problem is that this “genetics-first” paradigm does not fit the emerging research, including Dr. Naviaux’s, and has failed to produce answers. Research that does not fit neatly within this view—or that dares to contradict it—has little chance of being funded.

PHOTO: ISTOCK/GETTY IMAGES

Case in point: None of the three organizations have supported Dr. Naviaux’s recent research or the clinical trial, even after he successfully reversed autism-like behaviors in multiple mouse models. Thankfully, a grass-roots effort by parents and small nonprofits, including the one I run, was able to supply most of the funding. For the rest, Dr. Naviaux went into debt.

A similar story is what led me to start a nonprofit in 2014. While trying to understand my son’s unexpected improvement in autism symptoms while taking a common antibiotic, I was surprised to discover results from a clinical trial published 15 years before. In that study, 8 of 10 boys with severe autism showed significant improvements while taking the antibiotic vancomycin. I met with the researchers years later to find out why they had not followed up on this novel, intriguing finding. They all said the same thing: They could not get funding because their results did not fit the established paradigm.

Portfolio theory teaches that diversification reduces risk, but there is little diversification in autism research funding. In finance, the risk is of capital loss or increased volatility; in autism the risk is a continued epidemic robbing children of their childhood and the prospect of an independent life. Beyond the personal toll, the economic costs of autism in the U.S. have been estimated at between $300 billion and $500 billion a year. Our lack of answers has a high price tag.

As Dr. Naviaux’s recent success shows, radical ideas have great value in science, but to be proven, they need to get funded. At the NIH, grant proposals are scored by small committees of prior grant recipients, a system that virtually enshrines the status quo. Incrementalism, at best, is the result. Playing it safe almost never produces breakthroughs. I’m sure the people on those committees would like to see progress as much as I would. The problem is not intent, but structure.

What we need is for the “market” that allocates capital to medical research to more closely resemble the risk-taking financial and venture-capital markets. Researchers should be rewarded for stretching beyond conventional views in search of breakthroughs. The obvious need is for more funders with adequate capital and diverse views. This could be fostered by formally combining the power of the venture-capital model with the passion of the medical nonprofit, but that will take time.

Meanwhile, some stopgaps may help. To ensure that the NIH and other government agencies diversify their autism research efforts, I propose a hard cap—say, no more than 25%—on how much of their grants can go to genetics-related studies, thus mandating diversification.

Another approach would be to start something akin to what Israel’s Directorate of Military Intelligence created to counter groupthink: an office of “devil’s advocate,” staffed by analysts whose job is to identify and challenge conventional points of view. At the NIH this group could fund studies that run counter to the prevailing paradigm.

This is the approach that the nonprofit I founded, N of One: Autism Research Foundation, takes by committing its limited funds to small studies that buck the conventional view in the hopes of seeding a breakthrough. In finance, we call it seed venture capital. It’s time we apply the lessons and approaches of a system that works to one that has not.

Mr. Rodakis is founder and president of the nonprofit N of One: Autism Research Foundation, which supported Dr. Naviaux’s suramin study.

 Appeared in the September 29, 2017, print edition.

This article was just published in Scientific American.  It points to the great progress that scientists have made in mapping the genes that lead to autism.

It also points to the fact that the more we know, the more we don’t know.

At some point in the not too distant future, it may be possible for kids to hbig dataave a genetic correction to mitigate the affects of autism.  Probably not for another 20 years, but progress is being made.

https://www.scientificamerican.com/article/using-big-data-to-hack-autism/

“If we ever saw a self-correcting defect in two mutations in autism,” Wigler says, “I would stand up and cheer.”

Article just published in Scientific American.  After you read it, you’ll still be asking what are those real reasons again, as the author seems to sidestep any hard conclusions.

The Real Reasons Autism Rates Are Up in the U.S.

A hard look at whether the rise comes from more awareness, better diagnosis—or something else

Well Jerry Seinfeld has outed himself as autistic only to immediately retract it.

I imagine part of his thinking in retracting his standing as a member of those on the spectrum was the PR fallout.  A lot of bloggers expressed umbrage at Seinfeld’s remarks.  That is not true autism, they claimed and pointed out how can a mega-millionaire put himself on the spectrum.

Well, that’s because it is a spectrum, the highest functioning members of the autistic family have arguably done more to advance human civilization than all the damn normals combined.  As a parent of two severly autistic boys, I get the difference and I don’t care for anyone trying to put a bright colored bow on autism.

But I think we can be more inclusive.  As for Mr. Seinfeld, he can choose to look at himself as typical or on the spectrum.  However, he chooses to define himself, there’s nothing wrong with that.

http://www.washingtonpost.com/news/post-nation/wp/2014/11/20/scratch-that-folks-jerry-seinfeld-says-hes-not-on-the-autism-spectrum-after-all/

 

is it selfish of me to say I only wish this article had been posted 14 years sooner?

 Autism research is in a race against time. For years, researchers have sought to screen for symptoms of autism spectrum disorder (ASD) at younger ages, and enroll children in behavioral therapy earlier and earlier. A new study published Tuesday pushed the age limits of the research with a small number of extremely young infants, some as young as six months old. By the time the children turned four, having received therapy administered entirely by their parents, almost none of them required any form of autism services.

http://www.newsweek.com/autism-therapy-6-month-old-babies-eliminates-symptoms-limited-study-269155

 

 

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The cure or means to mitigate autism remain outside our grasp, but this might prove to be a landmark study, as scientists for the 1st time have linked a definitive cause of autism to a genetic mutation.

http://www.dailymail.co.uk/health/article-2683127/Have-scientists-autism-GENE-Breakthrough-specific-link-DNA-condition-discovered.html

interesting article about a guy who thinks he may have found a cause for Autism and even more interestingly, a way to shut it off:

Autism

Rain mouse

Recent experiments give a glimmer of hope for a treatment for autism

WHAT causes autism is a mystery. One theory is that a phenomenon called the cellular-danger response lies at the root of it. The CDR makes cells put their ordinary activities on hold and instead switch on their defence systems, in reaction to high levels in the bloodstream of chemicals called purines. These are important and widespread substances: ATP, a molecule that shuttles energy around cells, is a purine; so are half the “genetic letters” in DNA. Cells under viral attack tend to shed them. Too many of them in the blood can thus be a signal of viral infection. In that case activating the CDR makes perfect sense. But studies have shown that people with autism (and also those with some other brain conditions, such as schizophrenia) often seem to have chronic CDR. The purine signal has somehow got stuck in the “on” position.

Why this happens is obscure. But it has occurred to Robert Naviaux of the University of California, San Diego, that once the signal is stuck in this way, chronic CDR might, by subverting the function of crucial brain cells, be the immediate cause of the symptoms of autism. In a series of experiments, the latest of which has just been published in Translational Psychiatry, he makes a plausible case that this is exactly what is happening—and he also illuminates a route to a possible treatment.

Dr Naviaux’s experiments start by injecting pregnant mice with viral genes. This stimulates the CDR in both mother and fetus. The offspring of such pregnancies often show behaviours, such as fear of strangers, fear of novelty and poor co-ordination, that would be interpreted as autistic in people, and this procedure is thus used as a model of autism.

Dr Naviaux reasoned that, if chronic CDR is the cause of autism’s symptoms, abolishing it should abolish the symptoms. He further reasoned that one way this might be done is with a drug that binds to a cell’s purine receptors, so that they cannot react when purines come along. One such drug exists. It is called suramin, and is used to treat sleeping sickness. Dr Naviaux has therefore been trying it out on the model mice.

Once they are weaned, he puts these mice through a series of behavioural tests and compares the results with those of similar mice whose mothers were injected with saline rather than viral genes. One test measures whether they have trouble interacting with a stranger mouse. A second studies how physically co-ordinated they are. A third runs them through mazes to see if they have a preference for “sameness”, as many autistic people do. At the age of six months, he then gives them either an injection of suramin or an injection of saline solution, and tests them again. Finally, five weeks after the injection, when the level of suramin in their bodies has fallen back to zero, he tests them once more.

The upshot, he has found, is that suramin treatment abolishes some of the animals’ autistic symptoms. Mice which once showed an aversion to novelty, and considerable anxiety when forced to meet a stranger, show neither of these after treatment with the drug—though their co-ordination is not improved. In his latest series of experiments he has also looked at the drug’s metabolic effects. He finds that suramin treatment returns to normal 17 of the 18 metabolic pathways that are noticeably different in autistic and non-autistic mice.

The effect is not permanent. The experimental mice’s autistic behaviours come back once the suramin has disappeared from their bodies. But these are interesting results. They suggest CDR really is an important part of autism, and that it may be a tractable one. Dr Naviaux is not suggesting using suramin itself to treat people with autism. Though appropriate for an acute, life-threatening illness, which sleeping sickness is, its side effects (the most serious of which is damage to the adrenal cortex) make it unsuitable for chronic prescription to someone whose life is not in danger. But if his work stands up to the scrutiny of others, then looking for another purine-receptor blocker would surely be a worthwhile endeavour.

which ironically have me itching for a stiff drink…

Autism Costs U.S. Billions a Year

 

Published: Jun 10, 2014

 

By Michael Smith, North American Correspondent, MedPage Today
Reviewed by Zalman S. Agus, MD; Emeritus Professor, Perelman School of Medicine at the University of Pennsylvania

This is a good article about the need for parents to be advocates for their kids.

http://www.huffingtonpost.com/arshya-vahabzadeh/autism-_b_5307391.html

A Russian Roulette view of having an autistic child.  Of course, it’s under the guise of science, so that should make you feel better.  You probably already have an autistic child if you’re reading this, so here’s your chance to view all the stop signs you missed the first time:

A STUDY published last week found that the brains of autistic children show abnormalities that are likely to have arisen before birth, which is consistent with a large body of previous evidence. Yet most media coverage focuses on vaccines, which do not cause autism and are given after birth. How can we help people separate real risks from false rumors?

http://www.nytimes.com/2014/03/30/opinion/sunday/how-to-think-about-the-risk-of-autism.html