PhD, University of California, San Francisco
BA, Harvard University
Eirene’s broad interest is the regulation and function of Autism Spectrum Disorder genes during human cortical development. Specifically, she is studying chromatin regulation of ASD gene regulatory elements across development, and the function of chromatin modifying genes that are implicated in ASD. Previously, Eirene worked on the regulation of monoallelic olfactory receptor gene expression (Markenscoff-Papadimitriou et al, 2014).
PhD, Yale University
BS, Duke University
Helen is interested in understanding how ASD-associated genes function during neurodevelopment. Despite the genetic heterogeneity of ASD, several lines of evidence suggest that ASD-associated genes share common molecular underpinnings. To identify these common mechanisms, Helen leverages CRISPR/Cas9 genome editing with the diploid frog model Xenopus tropicalis. Due to the speed of frog development, Helen can rapidly study the loss of function phenotype of many ASD genes in parallel. Specifically, she injects Cas9 protein and a single guide RNA (sgRNA) against an ASD gene at the two-cell embryo stage, generating animals in which exactly half the body (separated by the midline) is mutant, allowing for direct comparison of mutant and control cells in the same animal. Helen uses a variety of techniques to identify ‘convergent phenotypes,’ including RNAseq, in situ hybridization, and immunostaining. In this way, Helen's work is aimed at identifying phenotypes most relevant to ASD pathology to provide a path forward for understanding the molecular mechanisms underlying ASD.
PhD, Neuroscience, University of Ottawa, Canada
Msc, Molecular Biology, University of Winnipeg, Canada
BS, Biology, University of Winnipeg, Canada
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interaction, verbal and non-verbal communication, and by restricted and repetitive behavior. The diagnostic criteria require that symptoms become apparent before a child is three years old. Autism affects information processing in the brain by altering how nerve cells and their synapses connect and organize; how this occurs is not well understood. ASD has a strong genetic basis, but the genetics are complex and it is unclear whether it is explained more by rare mutations, or by rare combinations of common genetic variants. It has long been presumed that there is a common cause at the genetic, cognitive, and neural levels for autism's characteristic triad of symptoms. However, there is increasing suspicion that ASD is instead a complex disorder whose core aspects have distinct causes that often co-occur. Therefore, as a part of my postdoctoral project in Dr. State and Dr. Rubenstein's Labs, I am interested in understanding and investigating the transcriptional network downstream of Tbr1, a gene that has been shown to be associated with ASD, in order to understand the potential mechanisms underlying ASD. Before coming to UCSF, I completed my doctoral studies at the University of Ottawa (Canada) in developmental neuroscience, where I investigated the functional analysis of Dlx intergenic enhancers in the developing mouse forebrain.