Postdoctoral Scholars

---

Eirene Markenscoff-Papadimitriou

PhD, University of California, San Francisco
BA, Harvard University
​​

About eirene

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).

Helen Willsey
​

PhD, Yale University 
BS, Duke University
​

about HELEN

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. ​

Siavash Fazel Darbandi
​

PhD, Neuroscience, University of Ottawa, Canada
Msc, Molecular Biology, University of Winnipeg, Canada
BS, Biology, University of Winnipeg, Canada

about siavash

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 his postdoctoral project in Dr. State and Dr. Rubenstein's Labs, Siavash is 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, Siavash completed his doctoral studies at the University of Ottawa (Canada) in developmental neuroscience, where he investigated the functional analysis of Dlx intergenic enhancers in the developing mouse forebrain.

Shan Dong

Ph.D. Bioinformatics, Peking University, China
B. Engineering, Bioinformatics, Tongji University, China

About SHAN

Shan's research interest is using bioinformatics approach to detect potential genetic risk factors of neurodevelopmental disorders and investigating their contribution to disease etiology. Her previous work has demonstrated the contribution of de novo insertions and deletions in ASD risk and identified two novel ASD genes, KMT2E and RIMS1(Dong et al. 2014). She is also trying to investigate the relationship between genetic risk factors (i,e, de novo mutations) with environmental risk factors, such as smoking. As a member in Psychiatry Bioinformatics Core (PsychCore), her research involved developing new pipelines for both biological and clinical research on whole genome sequencing data and whole exome sequencing data, as well as interpreting the clinical significance of genetic variants.

Donna Werling

PhD, Neuroscience, University of California, Los Angeles
BS, Psychology, Duke University

About donna

As a postdoctoral scholar in both the State and Sanders labs, Donna’s research is focused on the etiology of neurodevelopmental disorders such as autism. Using a combination of human genetics and functional genomics approaches, she is working to identify genetic risk variants for these conditions and investigating how the identified variants interact with other, non-genetic biological risk factors. In particular, Donna is interested in how sexually dimorphic biology contributes to sex-differential prevalence or presentation of autism.

By identifying risk variants and integrating them with previously implicated genes, molecular pathways, neurodevelopmental processes, and contributing factors such as sex, Donna aims to advance understanding of the risk architecture for developmental disorders and to facilitate the development of targeted treatments.