Steve Scherer
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Aug 22, 2026
What is the evidence that autism is genetic?
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Alicia HalladayHOST
So can you tell us a little bit about some of the major things that have happened and the steps along the way so listeners can get an idea of the accomplishments and the knowledge that we've gained through genetic research?

Steve SchererGUEST
So really there were some seminal studies that came out in the early 1970s that continued throughout the last few decades that through the study of twins and also through families that genetics plays anywhere between, depending on the study, 60 to 95% of contributory role to why autism comes about in people.

Steve SchererGUEST
And I won't go into the details of how those studies were designed, but this has been replicated over and over and over again.

Steve SchererGUEST
And then in, you know, as the new technologies came out in molecular biology and eventually genomics, our team as part of the Autism Genome Project, which Alicia, you'll remember those days, some 25 years ago, and others around the world, there were groups in Europe and other places in the United States, used increasingly higher resolution technologies to scan the genome, to look for what those genetic factors may actually be.

Steve SchererGUEST
And, you know, I won't go deep into the history, but the first studies that came out that really showed definitively that there were genetic changes, these so-called copy number variations or CNVs, came out in 2007-ish or so.

Steve SchererGUEST
And There were two studies in particular that showed that CNVs, usually spontaneous or de novo, so unique to that individual, not found in the parents, accounted for about 7% of autism.

Alicia HalladayHOST
So can you explain to people who may not, and I've tried to explain, can you explain why you would find nothing 20 years ago, but then you would find something on a different platform today?