My research aims to understand cilia function in neurodevelopment through in-depth genomic analysis of ASD variants and functional characterisation using human neuronal models.
Before joining the Tammimies Lab in 2019, I completed my PhD in Neurobiology at the University of Queensland in Brisbane, Australia, investigating the role of the hypoxia-induced microRNA-210 in neuronal plasticity.
I am interested in transcriptome dynamics controlling neuronal function, in particular, the role of non-coding genomic regions and regulatory RNAs in neurodevelopment and learning and memory.
Non-motile primary cilia are found on most cell types within the brain and are required for proper brain patterning, neurogenesis, and neural migration. Neurodevelopmental abnormalities and cognitive dysfunction are also common features of genetic ciliopathy disorders where ciliogenesis and cilia function are disrupted. The Regulatory Factor X (RFX) transcription factor family regulate ciliogenesis gene networks and are essential for proper cilia formation. Knockout of RFX factors also leads to neurodevelopmental defects in mouse models. Recently, RFX3 has also been implicated as a candidate gene for autism following the identification of damaging, rare de novo and inherited variants in RFX3. My research aims to elucidate the potential role of the regulatory factor X (RFX) transcription factors, their target genes and ciliogenesis in the etiology of autism spectrum disorders (ASD) and neurodevelopment using large-scale genomic variant information, human cell models and functional genetics.
HKH Kronprinsessen Lovisas
StratNeuro Postdoctoral Grant
Wenner-Gren Postdoctoral Fellowship
PhD in Molecular Neurobiology - Queensland Brain Institute, University of Queensland, Australia (2014 - 2018)
Bachelor of Biomolecular Science (Honours) - Griffith University, Australia (2010 - 2013)