How autism-associated genes are differentially spliced during brain development remains largely unknown. Xiaochang Zhang aims to combine single cell RNA-seq with long-read sequencing to investigate cell-type-specific mRNA isoforms that are expressed during neocortical development. He plans to apply this knowledge to the interpretation of mutations associated with autism risk, leading to a better understanding of how gene expression and development may be affected in autism.

Fragile X syndrome, an autism spectrum disorder and the most common genetic form of intellectual disability in males, is caused by the loss of function of FMRP. In the current project, Gene Yeo plans to investigate whether reduction of a protein antagonist of FMRP can rescue disease-relevant deficits in human stem cell and mouse models of fragile X syndrome.