New insights in autism genetics have spurred increasing interest within the human genetics research community, and nowhere was this more evident than at this year's annual meeting of the American Society for Human Genetics. Held in Philadelphia from November 11 through 15, attendees witnessed a
dramatic increase in the number of posters and oral presentations pertaining to autism. As an example, last year's meeting featured six talks on autism; in contrast, this year, not only were there ten presentations devoted to autism genetics, but four of them were driven by samples from the Autism Genetic Resource Exchange (AGRE) or collaborations with the Autism Genome Project (AGP), both Autism Speaks sponsored programs.
In the past two years, several research teams have undertaken large scale and systematic genetic analyses of the AGRE collection. One such team, a collaboration between researchers at the Broad Institute in Boston and Johns Hopkins Unviersity, made headlines recently by identifying a copy number variation (CNV), or submicroscopic DNA deletions and insertions, at chromosome 16p11 in about 1 percent of affected individuals. Similarly, Maja Bucan, Ph.D., and her colleagues at the University of Pennsylvania, UCLA, and AGRE reported data that suggest rare copy number variations play a significant role in the autism risk within individual families.
The AGP continues to report on new findings using the combined DNA samples from several major collaborative efforts, including AGRE. Consortium member Jim Sutcliffe, Ph.D., of Vanderbilt University, presented findings that further supported the involvement of previously identified genes such as CNTNAP2 and RELN, as well as MACROD2, a new candidate gene on chromosome 20 that have been previously implicated in mental retardation and immune system complications in some medical conditions.
All of these results are exciting because they are starting to converge around a few biological pathways that may underlie the behavioral and medical symptoms we see in autism. They also suggest new avenues of investigation not only in genetic but in related fields such as environmental sciences and animal model systems. Given autism's complexity, we expect to find even more genetic risks factors in the next few years that will deepen our understanding of autism and possibly point to new opportunities in diagnosis and treatment. AGRE, Autism Genome Project and other Autism Speaks-supported efforts are working steadily to get us there.