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.

A visualization of the human genetic information contained in the SFARI Gene database. The outer shell displays a curated subset of genes spread across the 23 chromosome pairs. The color of each gene indicates the confidence of the gene’s predicted link to autism, with red indicating the strongest links. The shell’s interior connects genes associated with the same protein interaction

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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