Project Title: Genetic identification of cell types underlying brain disorders using single nucleus ATAC-seq data
Supervisor: Dr Nathan Skene
Location: Burlington Danes Building, Hammersmith Hospital Campus
In 2013 I started my bachelors degree in Pyschology in Durham University. It was thouroughly enjoyable but I realized with time that I grew more fascinated with the neuroscience and molecular biology. Therefore, during the summer holiday before I started my third and final year, I interned in the Biochemistry department Lousianna State University with Dr Bing Hao Luo’s lab studying intergrins. Back then I had no background in this area, but he was still nice enough to take my on based on my interest and passion and I will always be grateful.
It is this experience that strengthened my interest in biology and equipped me with wet lab skills which prepared me for my Masters degree “Experimental Neuroscience” at Imperial College. During my Masters degree I was involved in 3 different projects in different areas of neuroscience involving neurogenetics, neuroimaging and neurobiology behind neurodegenerative and neuropsychiatric diseases.
After my Masters degree I started my PhD in Prof Jackie de Belleroche’s lab, my project involved using a candidate approach to examine the genetic architecture behind schizophrenia. However, due to her unfortunate passing I moved to Dr Nathan Skene’s lab in August of 2019 and is still concentrating on a genetics but with a more computational approaching, focusing on genetic identification of cell types underlying brain disorders. During my year with Skene lab, I wrote a pipeline for running on the PBS computing cluster for using the Linkage disequilibrium score regression model to partition heritability from GWAS summary statistics for neurodegenerative disorders.
BSc Pyschology Durham University (2013-2016)
MRes Experimental Neuroscience (2016 – 2017)
PhD (expected 2022) Clinical Medical Research at Imperial College London, 2018 - present
Human genetics has enabled data-driven answers to fundamental questions about disease aetiology, i.e. which cell type causes the disease. There have been many success using this approach. Skene et al., 2018 found many of the diverse gene sets previous linked with schizophrenia, for instance genes involved in synaptic function and anti-psychotic targets, commonly implicated the same brain cell types. This suggest a parsimonious explanation for the disease and assumes that for cell types causally involved in complex traits, their gene expression is be predictive of disease heritability.
Further, Byrois et al., 2020 revealed associations between Alzheimer’s disease and tissues with prominent roles in immunity which were consistent with other studies. They also had an unexpected observation which is the independent association between Parkinson’s disease and oligodendrocytes. However, this was using mouse sequencing data to understand human phenotypes because there is a lack of human brain single cell RNA-seq data. Therefore, this work needs to be validated, and it is one of my main research interests and aims of my PhD project.
Presentations and conferences
Jelen et al., (2019) VARIANTS IN THE ZINC TRANSPORTER 3 ENCODING GENE (SLC30A3) MODULATE GLUTAMATERGIC ACTIVITY DURING A WORKING MEMORY TASK IN SCHIZOPHRENIA. Abstract presented at British Association for Psychopharmacology 2019 Summer meeting.
British Neuroscience Association (BNA)