What's missing may be key to understanding genetics of autism

Search for genes involved in developmental disorder reveals just how different each case is

3:55pm, June 9, 2010

Each person with autism may have their own genetic version of the developmental disorder, a new large-scale study finds.

Rare variations in which some parts of a person’s genetic blueprints have been erased or repeated are responsible for some cases of autism, the study shows. Such missing or duplicated stretches of DNA are known as copy number variations and have been implicated in schizophrenia and other diseases (SN: 4/25/09, p. 16).

The new study, published online June 9 in Nature, shows that some people with autism may be missing all or parts of one or several genes involved in the development and function of the brain. The findings could lead to improved diagnosis of the disorder, perhaps even in infants, and may give new direction to research on drug treatments.

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