Tuesday, April 13, 2010

Autism Genetic Breakthrough: Blood Test and Treatment May Be Possible

Laura Shumaker, a blogger on the San Francisco Chronicle, highlighted a study by the Department of Biochemistry and Molecular Biology at the George Washington University Medical Center in Washington, D.C. outlining the possibility of using a blood test to find genetic markers for Autism, and providing treatment.  The study, published online at the Federation of American Societies for Experimental Biology Journal, identified two genes of protein production that are reduced in those with severe Autism.  The interesting thing is that providing a "cure" for this type of Autism seems just as simple as providing gene-therapy to increase the production of the BCL-2 and RORA proteins. 

Now, before we get all excited in thinking that Autism may be cured within our lifetime, let's keep in mind that this is a recent discovery that still needs to be reproduced and proven, and that any gene or drug therapy that will come out of it will be at least 5 to 10 years in the making (I would wager, at any rate).  But the important thing that came out of this study is that the genetic material could be something as simple as a red blood cell, and treatment can be equally simple. 

The study was funded through a grant by Autism Speaks, an organization often criticized by many in the Community for it's goal of "curing" Autism.  For those with severely Autistic children, this could be for which they have been praying.  They may soon have a way to manage the condition of Autism in their children, allowing them to perform in school and eventually become contributing members of society as we hope all our children will be one day.  Futures seem bright, treatment is medical instead of behavioral, and that means Insurance Companies have fewer and weaker arguments against covering Autism as a diagnosis. 

Just imagine how far we would have been if the Autism community had not been distracted by the MMR controversy.  If you are interested in reading the study as it was published, the methods of testing, and the rigor the process had gone through, the full article is available here: http://www.fasebj.org/cgi/content/abstract/fj.10-154484v1

I'm not sure if everyone can download the full text or not, as I am looking from within the University of Utah's network, which has registered for a number of pay-only online subcriptions.  If nothing else, you can read the Abstract. 

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