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Genetic basis of autism

Michael Wigler, Ph.D.
Cold Spring Harbor Laboratory

In 2007, groundbreaking work by Michael Wigler and his colleagues at the Cold Spring Harbor Laboratory identified spontaneous, non-inherited copy-number variations — duplications or deletions of chunks of DNA — as an important risk factor for autism. The researchers are expanding their study with the goal of identifying more autism-linked mutations and gaining new insights into the heritability of the disorder.

The researchers plan to greatly increase their study population, collecting data on copy-number variations from 1,500 families with one affected child (from the Simons Simplex Collection), 800 families with more than one affected child (from the Autism Genetic Resource Exchange), and 1,000 control individuals. From this data, they aim to use comparative genomic hybridization (CGH) to identify spontaneous genetic defects that are linked to autism. They also plan to assess other factors that can influence the risk of autism, such as gender and inherited genetic variations.

The researchers plan to compare the genetic data with clinical data to determine whether specific defects tend to cause similar symptoms. They may also use animal models in collaboration with other laboratories to test the effects of the autism-related genetic variations on behavior and neural circuitry.

The findings may be useful in genetic counseling and in developing and testing therapies for autism. In addition to the potential clinical benefits, the study may yield innovative processes for analyzing massive amounts of genomic data.