The Hunt for Autism Risk Genes

Over the past five years, sequencing studies of individuals with autism and their families have led to the discovery of about 100 high-confidence autism risk genes. Yet researchers estimate that 300 to 1,000 genes may confer risk for autism.

Over the past five years, sequencing studies of individuals with autism and their families have led to the discovery of about 100 high-confidence autism risk genes — a remarkable step forward in understanding the genetic basis of the condition. These studies have successfully gleaned many of the mutations most prominently involved in autism: the ones that, though rare, appear frequently enough to have made their role in autism unmistakable. Yet researchers estimate that 300 to 1,000 genes may confer risk for autism. To shake out these additional genes, the Simons Foundation Autism Research Initiative (SFARI) is pursuing a wide range of approaches.

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