Different Autism Risk Genes Show Same Effects on Brain Development; Harvard and Broad Researchers Use 3D, Miniature Models (Organoids) of the Human Brain to Advance Disease Understanding

Autism spectrum disorder has been associated with hundreds of different genes, but how these distinct genetic mutations converge on a similar pathology in patients has remained a mystery. Now, researchers at Harvard University and the Broad Institute of MIT and Harvard have found that three different autism risk genes actually affect similar aspects of neural formation and the same types of neurons in the developing human brain. By testing the genetic mutations in miniature 3D models of the human brain called “brain organoids,” the researchers identified similar overall defects for each risk gene, although each one acted through unique underlying molecular mechanisms. The results, published online on February 2,2022 in Nature, give researchers a better understanding of autism spectrum disorder and are a first step toward finding treatments for the condition. The article is titled “Autism Genes Converge on Asynchronous Development of Shared Neuron Classes.”
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