Autism genes

12 May 2012

Interview with

Nell Barrie

Nell - So the first one is looking at the genes behind autism and this is research in America and they've looked at about 600 families who've got people with autism in the family, and they actually found three new high risk genes. But it also looks like the whole disease is a lot more complicated in terms of which genes are contributing than we thought before.

Kat - Because I think it was thought there's about 200 genes involved in autism, but now, this new study puts the number at about a thousand. That seems very complicated.

Nell - Yeah, exactly and I mean, it's a behavioural disease so it's kind of what would be expected I suppose, that there's lots of different changes that can maybe cause the same types of symptoms in people, and they've actually looked at gene mutations that are not inherited from the parents, but are just arising spontaneously, so just little changes that happen by accident randomly.

Kat - So this is more likely to be relevant to autism and the whole population then rather than kind of specifically inherited syndromes, do you think?

Nell - Yeah, it sounds like that and I mean, I guess it's another one of those things where you can look at all these different changes, figure out how common they are as a background sort of thing, and then perhaps that will give you clues for ways to treat this and ways to tackle the problem.

Kat - Certainly, important because there's more and more people being diagnosed with autism. I think a lot of that is they've changed the criteria for diagnosis and more people are falling within that spectrum disorder. One of the interesting things and the challenging things I saw, I think in the press release, one of the researchers says the phrase, "The bad news is, there is heterogeneity out the yingyang..."

I think they've just found this huge number of genes and it's very complex. It's all sorts of different versions of them, so it's a really big challenge and how do you think they might straighten out?

Nell - Well I guess, I mean, one thing I thought was interesting is that could perhaps be part of the reason why you see this sort of spectrum of autism-like disorders I guess. You've got some people who are really badly affected, others who maybe just have some symptoms, and perhaps that could give us some clues as to what's going on there.

Kat - I think larger studies as well, just to try and figure out really what's going on a much larger basis.

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