Cellular models for autism de novo mutations using human stem cells

Recent advances in sequencing analysis of individuals with autism have revealed a large number of genetic variations that are associated with autism. However, the causal role and mechanisms of these mutations are not known.

In this study, Feng Zhang and his colleagues at the Broad Institute in Cambridge, Massachusetts, aim to use human pluripotent stem cells to generate a set of isogenic cell lines that carry specific autism-associated mutations. They will also develop methodologies to differentiate pluripotent stem cells into specific subtypes of neurons so that the function of these correlated mutations can be studied in a disease-relevant context.

This study could yield several major advances for the autism field. First, it aims to establish cellular models that are amenable to high-throughput analysis and drug screening. Second, the findings could potentially reveal new insights into the mechanisms and molecular pathways that underlie autism. Third, the researchers plan to develop differentiation methods for the generation of different types of neuronal subtypes. Such methodologies could aid future in vitro studies of autism and related disorders.