Paula Vij

Research Description

Paula is a graduate student in the Neuroscience Ph.D. program. She received her B.S. in Biology with an emphasis in Physiology from California State University, East Bay. Paula works in the characterization and cell modeling of a genetic disorder on a gene called SYNGAP1 using patient-specific iPSC-derived cells. This gene provides instructions for making a protein called SynGAP1, which plays an important role in the brain. SynGAP1 helps regulate synapse adaptations and promotes proper brain wiring, which is particularly important during a critical period of early brain development that affects future cognitive ability. De novo mutations in this gene result in loss of functions and cause haploinsufficiency, leading to MRD5, whose phenotype comprises intellectual disability, developmental delay, autism, and epilepsy. The goal of her project is to use a genome-modifying mechanism, CRISPR-mediated activation (CRISPRa), which targets a transcriptional activator to the gene’s regulatory element as a viable approach that could potentially correct SYNGAP1 haploinsufficiency.