Entry Date:
July 1, 2021

Understanding Mutations associated with Schizophrenia & Autism

Principal Investigator Mark Bathe

Project Start Date July 2020


Neuronal synapses consist of hundreds of proteins organized at the sub-micron scale that facilitate synapse plasticity and signal transmission in normal brain development and function. While genetic studies have revealed numerous variations in neuronal synapse proteins that are associated with diseases such as Schizophrenia and Autism, it is unknown how these genetic variations impact neuronal synapse structure and signal transmission needed for normal brain function. In this research, we are applying synthetic nucleic acids to perform highly multiplexed imaging of synaptic proteins and their transcripts to resolve their sub-cellular localization, expression levels, and molecular associations. This research area aims to understand how genetic variations present in patients with Schizophrenia and Autism impact neuronal function to ultimately help develop therapeutic treatments for these debilitating diseases.