My Expertise
My research investigates the genetic and transcriptomic changes associated with brain disorders, including neurodevelopmental and neurodegenerative disorders, and their underlying mechanisms.
Keywords
Fields of Research (FoR)
Neurogenetics, Genomics, Animal cell and molecular biologyBiography
My PhD research investigated enhancers, which are non-coding genetic regulatory regions, in primary human astrocytes, a glial cell subtype in the brain. Enhancers harbour mutations for complex diseases, such as neurodevelopmental and neurodegenerative disorders, and often act in a cell-type specific manner. While enhancers and the genes they regulate can be predicted by biochemical signatures, many candidate enhancers do not act as enhancers...view more
My PhD research investigated enhancers, which are non-coding genetic regulatory regions, in primary human astrocytes, a glial cell subtype in the brain. Enhancers harbour mutations for complex diseases, such as neurodevelopmental and neurodegenerative disorders, and often act in a cell-type specific manner. While enhancers and the genes they regulate can be predicted by biochemical signatures, many candidate enhancers do not act as enhancers when functionally characterised. My research performed the first large scale characterisation of candidate enhancers and their gene targets in a primary cell line using a CRISPRi scRNA-seq screen. This functionally characterised astrocyte enhancers and uncovered enhancer-gene pairs associated with Alzheimer's disease.
I am currently a postdoctoral researcher under Prof. Irina Voineagu and I am continuing to investigate Alzheimer's disease-associated enhancers identified during my PhD research to understand their role in the function of astrocytes and in disease. I am also investigating a gene involved in intellectual disability using human brain organoids. These brain organoids model brain development and genetic perturbations allow us to study the role of this gene in the developing brain and it's role in intellectual disability.