Genetic findings about autism factors are huge!

When I received my University of Toronto alumni newsletter this morning, I was very pleased to read a news release about the latest findings of the International Autism Genome Project, Phase 2. Although the report of the study itself can be found in a June 9th advance edition of Nature, the key points for professionals and parents from the release are:

The study substantiates the importance of genes as susceptibility factors in autism spectrum disorders. Meaning that if a child’s behaviours falls within the autism spectrum, identifying those factors could pave the way for a definitive diagnosis, which in turn should lead to treatment options.   

Some of the susceptibility genes — called “copy number variants” (CNVs) appeared to be inherited while others are considered new. The result? Dozens of new autism risk genes have been discovered, including “some that might be helpful in early diagnosis.” As Stephen Scherer (Director of the McLaughlin Centre at the University of Toronto) is quoted as saying: “We now know several of the genes involved in autism and for the first time, we are able to tie many of these genes into the same biological pathways involved in brain function….Knowing these autism genes are linked, we can begin to develop therapies to target the common pathways involved.”

Another discovery made during this phase of the project was the overlap between autism susceptibility genes and those genes that were previously thought to be implicated in intellectual disability. As such, I can’t help wonder how the developers of the next DSM-V will deal with this new information.

In 10% of the families studied (1500 in all and more than 120 scientists) they found that there were some genetic “clues” that may “assist in the early diagnosis of autism or related complications.”

So, the results of this study will, no doubt, result in a paradigm shift when “it comes to our understanding of the root causes of autism and indeed other neurodevelopmental disorders.” In fact, the Canadian researchers involved in this project say the next goal “is to set up mechanisms and processes so that all families who are interested can have access” to the same testing as the 1500 families involved in the study.

Think about that. Parents being able to take their children for DNA testing, just like any other blood test. Then, if no genetic cues or CNV’s suggesting autism or intellectual disability are found, then genetic causes can be ruled out. Meaning, that the medical profession will have no choice but to look for other possible causes, including environmental toxins and possible negative reactions to vaccines.

The crux of the matter is that, even though this study’s findings have been quietly released, its findings are huge because they are about to change the way autism spectrum disorders are currently diagnosed. Here, for example, is what Harold Doherty at Facing Autism in NB wrote on that topic in relation to these latest findings.

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