Researchers have found that many children with autism have spontaneous mutations in their DNA, a breakthrough that may lead to new ways of testing and treating the disease.
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Autism is thought to be the most highly heritable of all neuro-psychiatric disorders. However, new research, from a team led by Cold Spring Harbor Laboratory (CSHL) scientists Jonathan Sebat, Lakshmi Muthuswamy and Michael Wigler, has found a distinction between heritable and sporadic forms of the disease.
“Our findings suggest that sporadic autism is genetically distinct from the type that runs in families, and that we must use different approaches for studying them,” said Mr Sebat.
The results strengthen the scientific basis for using microarray technology for diagnostic testing. This information could help to determine the risk of having a second child with autism, and the knowledge of which genes are involved may lead to the development of new therapies.
CSHL is pursuing a $200 million capital campaign that will include construction of new research facilities dedicated to the study of autism.
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