Thursday, June 10, 2010

copy number counts in autism

I recently wrote a news item for the Wellcome Trust Centre for Human Genetics, about the genetic work done on autism:

Autism genes: combinations and copy numbers

This work is mainly about finding out which genetic variants are truly linked to autism and which not. While many such associations have been reported, there is a great deal of uncertainty regarding which of these are really important for a significant number of cases.

What I also learned during my research for this piece is that copy number variations, e.g. gene duplications or deletion of duplicate copies, are now regarded as an important factor in autism genetics. As it happens, the WTCHG has another paper out in Nature online today dealing with the impact of CNVs in autism:

Functional impact of global rare copy number variation in autism spectrum disorders
D. Pinto et al., Nature (2010) doi:10.1038/nature09146 Published online 09 June 2010

For my previous pieces on autism research, click here.

photo: NHG

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