Identification of genes strongly linked to autism and neurodevelopmental disorders

In an analysis led by co-first author Minshi Peng, the scientists examined the expression, or activity levels, of the genes they uncovered in developing human neurons. They learned that genes linked predominantly to developmental delay tend to be active in early neuronal development, whereas autism-related genes tend to play a role in more mature neurons.

Furthermore, in an analysis of more than 20,000 samples from individuals with schizophrenia, the researchers found that genes that are strongly associated with autism were also more likely to be associated with genes that increase risk for schizophrenia.

Based on the study findings,co-senior author Joseph D. Buxbaum said a precision medicine approach to autism would benefit patients, as treatments that work for individuals carrying a mutation in one gene may not work in other individuals carrying a mutation in a different gene.

Ref:

Joseph D. Buxbaum et. al, 'Rare coding variation provides insight into the genetic architecture and phenotypic context of autism,Nature Genetics,10.1038/s41588-022-01104-0