Friday, April 27, 2012

Genetics: Why Care?

(this blog post originally written as a guest for

I recently saw a post on Facebook that decried the amount of money spent on genetics research in autism. Across a picture of NIMH director Tom Insel's picture are the words "Admits that >80% of autism causes are environmental…wastes 700 million taxpayer dollars on genetic research" Was that money wasted?

As the mother of three children with autism with a known genetic cause I say NO the money wasn't wasted. "Of course", you say, "your children have a genetic syndrome (in our case, Fragile X) that is a known cause of autism…you wouldn't think it was wasted money." But hang in with me for a few more minutes and maybe you'll see why you should be happy there is money being spent on genetic research, even if your child's autism is not of genetic origin.

There is a medication that may well be a significant breakthrough in autism treatment  that was only conceived through the biochemical knowledge of Fragile X Syndrome. Your child may not have Fragile X but they may well benefit from the treatments aimed at FX simply due to the fact that researchers know some of the "whys" of FX. This is proven science.

Google "autism genetics" and "autism Randi Hagerman" and see what you find. There is significant reason to believe that as a direct result of the knowledge of the genetic underpinnings of a subset of cases of autism there will be some effective treatments -- possibly for all children with autism  -- soon.

Should we discount the fact that most cases of autism don't have a known genetic component? Certainly not! We have to look at all the pieces of the puzzle and not fixate on any one to the exclusion of the others.

The case for the study of the genetic causes of disorders primarily of "unknown cause" is not limited to autism. A good example is ALS (Amyotrophic Lateral Sclerosis/Lou Gehrig's Disease)…90 percent of ALS cases have no family history of ALS. Of the 10% that runs in families, only a fraction are attributable to a known genetic defect. Still, that known defect is being studied and an understanding of what goes haywire in that gene is leading to some promising research that could benefit everyone with ALS.

In both ALS and autism, there is likely an environmental insult that "trips the trigger" in a nervous system that is vulnerable.  Chances are that things like autism and ALS are just the tip of the iceberg in terms of the damage being done by well-intentioned (at least at the outset) "advances" in modern society. By all means, keep looking to decrease the toxic load in your child…and in yourselves…but don't be so fixated on environmental causes that other useful research suffers.

Here's a recent article that emphasizes the connection between genetics (Fragile X, specifically) and autism: A striking link is found between the Fragile-X gene and mutations that cause autism.

For a taste of what it feels like, substitute "autism" for "Fragile X" in this article and see how it makes you feel: There is some small glimmer of hope!


Bonnie LeRoy said...

Hello Claudia,
I am so sorry that you have this terrible disease; like you I am struggling with ALS having been diagnosed on Oct 25, 2012. Please check out this new treatment for ALS, I have just begun this treatment and am very excited and hopeful for not only a slowing of the progression but in some cases symptoms have been reversed.
The website is Winning the Fight and you can check it out here:
May our Lord bless you as we fight this fight together.

Anonymous said...

Claudia, The Dr's recently tested my nephew for Autism because he was exhibiting signs of Asberger. He recently turned 5 and was having anger issues. His final dx is ADHD and a learning disability, Funding for Autism and ALS is important. The only way to learn more about Autism and ALS is research, and find ways to improve the quality of life. And for ALS to find a cure.