There's nothing in the paper that puts us at odd[s] with people that do want to think there's something wrong in the environment.
You mentioned seemingly normal children suddenly showing symptomatology. Wouldn't that be triggered by something environmental?
There is a subjective sense that the child regresses in about 25 percent of the cases, but it's not really that the child is regressing, but the subjective experience of it. In fact, I've met scientists who told me a story about their three-year-old child who was developing very well, and then the child did regress. And this was from a trained observer, so I think there is little question that there are cases where little children regress. And that doesn't necessarily mean that something is environmental, although that would seem to be the logical conclusion, because I think in many cases, for example, where there are storage diseases. The body's buffer can accumulate. The child continues along normal development. The buffer gets filled and then catastrophe strikes.
The cases where there is regression are extremely interesting. It suggests a different molecular mechanism, but it doesn't necessarily suggest that a kid has been vaccinated and he's having an immunological reaction.
So, do you see the new theory of autism as a plan of attack for figuring out the disorder?
It says, "If you want to solve this disease at a genetic level, here's a reason to think that it can be done this way." It does have clinical application—not presently, but it will. The techniques that are developed to search for the causes will create more robust technologies, higher resolution technologies, cheaper technologies that then can be applied when parents walk in the door of the pediatric geneticist and ask them what's wrong with their son or daughter.
Are you getting the impression that people are going to follow the ideas you've laid out?
Oh, people already have done that. The PNAS paper, it doesn't matter if people believe it or not. If it's correct, it will guide research whether you believe it or not. Because the breakthroughs will come by seeing spontaneous mutations. So it doesn't matter if people believe it or not. If people know that you can find spontaneous mutations in autistic children, nobody knows for sure how much of autism that will reveal, but lots of groups are looking using this method both in autism and in schizophrenia. We are doing congenital heart disease. Certainly mental retardation
The general approach of looking at copy number variation as the cause for genetic disease has probably taken one of those exponential—it's probably hyper—exponential leaps. So, in 2003, we published the Science paper [which showed that there is relatively large amounts of copy number variation among normal, healthy people]. And I think already in 2005 or 2006 there was an American Genetic Association meeting that I didn't go to, but people came back and said that the whole thing about copy number variation. There's a flood of descendants of that approach.
Well, what does the theory accomplish socially?
Well, first of all it challenges the existing dodge. That is, if you're not able to solve a particular genetic disease, it gives you an alternate way of thinking about it. It also provides close to a rigorous analysis of how we should use population data to infer genetic models. The methodology based on how to use the data on sibling recurrence, I don't know if there's any paper like in the last 15 years that looks at the data and makes a genetic model that combines Mendelian and spontaneous. It may be unique that way. There are probably other things such as schizophrenia, depression, maybe even diabetes, which could yield the same kind of population genetic analysis. It does sort of open conceptually the door to maybe the unknown cause of spontaneous mutation.