Thursday, January 10, 2008

Study on Genetic Links to Autism

In an editorial by Evan Eichler and Andrew Zimmerman, The New England Journal of Medicine says:
"It has become clear that the solutions to autism will be neither simple nor uniform among patients with various autistic syndromes. At least 60 different genetic, metabolic, and neurologic disorders have been associated with autism and involve approximately 10% of patients, whose clinical presentations frequently vary, even among those with known disorders...these examples highlight a different paradigm for the genetic basis of autism. Rather than being an inherited disease, autism may be the result of many independent loci that rarely delete or duplicate during gamete production. Collectively, such de novo events might contribute significantly to the disease and explain why few genetic loci have been confirmed with the use of traditional linkage-based approaches...The discovery of significant associations for the rarer loci may require the screening of tens of thousands of DNA samples from patients rather than a few thousand samples. Deeper sample collection and new cost-effective genomic techniques may be needed..."

This is how mainstream media is reporting it:
"A rare genetic variation dramatically raises the risk of developing autism, a large study showed, opening new research targets for better understanding the disorder and for treating it..."

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