Single-cell phenotypes of autism spectrum disorder in the developing cerebellum

Autism spectrum disorders (ASD) are among the most common childhood neurodevelopmental disorders, with approximately 1% of children diagnosed worldwide. Hundreds of ASD risk genes have been identified, yet the functional interpretation of the disease-associated variants has remained a major challenge. Cumulative evidence implicates deficits in the cerebellum in ASD etiology, but a systematic characterisation of the neurodevelopmental mechanisms of ASD in the cerebellum is missing. In the proposed project, we will build an initial map of the ASD phenotypes present in the developing cerebellum using single-cell genomics technologies. We will systematically characterise the in vivo molecular and cellular phenotypes in the developing cerebella of 5 ASD mouse models. Together, these data will provide an initial map of ASD phenotypic manifestations in cerebellar cells, enable the identification of possible points of convergence, and improve our understanding of ASD disease mechanisms.