Former ASHG President Aravinda Chakravarti Leads Novel Effort That Identifies New Gene for Autism–“Treasure Your Exceptions”

Using a novel approach that homes in on rare families severely affected by autism, a Johns Hopkins-led team of researchers has identified a new genetic cause of the disease. The rare genetic variant offers important insights into the root causes of autism, the researchers say. And, they suggest, their unconventional method can be used to identify other genetic causes of autism and other complex genetic conditions. A report on the study was published online on March 25, 2015 in Nature and is scheduled for print publication in the April 2, 2015 issue of the same prestigious journal. The title of the Nature article is "Loss of δ-Catenin Function in Severe Autism." In recent years, falling costs for genetic testing, together with powerful new means of storing and analyzing massive amounts of data, have ushered in the era of genome-wide association and sequencing studies. These studies typically compare genetic sequencing data from thousands of people with and without a given disease to map the locations of genetic variants that contribute to the disease. While genome-wide association studies have linked many genes to particular diseases, their results have so far failed to lead to predictive genetic tests for common conditions, such as Alzheimer's, autism, or schizophrenia. "In genetics, we all believe that you have to sequence endlessly before you can find anything," says Aravinda Chakravarti (photo), Ph.D., a Professor in the Johns Hopkins University School of Medicine's McKusick-Nathans Institute of Genetic Medicine, Director of the Center for Complex Genomics, and a past President of the American Society of Human Genetics (ASHG). "I think whom you sequence is as important, if not more so, than how many people are sequenced."
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