From Newsweek – Autism: New Findings in from Big Gene Study

So what are the preliminary findings?
What this shows is that there are rare chromosomal changes, what we call copy number variations, [associated with autism] rather than a single base pair or DNA sequence.

What does that mean?
Humans often have common genetic variations that are linked to disease. The thinking has been that this model should apply to autism as well, and it does””common genetic variations do contribute to autism. But we’ve also discovered that a significant proportion of ASD results from rare mutations that are specific to people with ASD, and don’t occur in normal people. Finding rare mutations is a huge scientific challenge because it requires an intense, expensive genome investigation.

Haven’t scientists known for a long time that autistic spectrum disorders are genetic?
Yes. We know, based on family and twin studies, that autism is the most heritable of any neuropsychiatric disorder.

So, the togster is a big mutant and the tigling is a little mutant, a reversal of their current heights that they may well get a kick from. Me and mr tog are probably little mutants too, consistent with the heredity factor. (All humans – and other organisms – are mutants to some degree of course, as DNA replication is never 100% perfect. This is the sine qua non of evolution – variation in the genome.)

Seriously, the more work like this is done the less crap pseudoscience there will be about vaccinations, “refrigerator-mothers” and parents who just can’t discipline their weird kids properly. I, for one, welcome our new mutant overlords.

Categories: health, relationships, Science

Tags: Autism & ASD, family, relationships