My research is focused on understanding the neurobiology of complex childhood genetic disorders. 

In my current role, I use whole genome and exome sequencing to identify novel variants in undiagnosed patients, and analyse them using mammalian overexpression systems and in vitro functional assays. By doing this, we are not only able to understand the genetic aetiology of previously uncharacterised conditions, but work towards elucidating precise therapeutic options for the patients in question.I am currently interested in movement based disorders, in particular those involving the dopaminergic system, as well as diseases involving SLC6 transporters and associated synaptopathies, as well as NMDA receptor signalling.

Previously, I have investigated Epilepsy causing NMDAR using threedifferent strategies. Firstly, neuronal stem cells have been edited usingCRISPR/Cas9 genome editing to generate a human cell model of NMDAR mediatedepilepsy. Secondly, mutant NMDAR constructs (generated by site directedmutagenesis) were overexpressed in HEK293 cells, and receptor functionexplored using biochemical and cell signalling assays (Western blotting,immunocytochemistry, calcium imaging and cell fractionation). Finally, mouselines containing two epilepsy causing NMDA mutations have been generated inorder to assess how the mutation affects NMDAR function in a mammalian model.Therapeutic strategies will be tested on models to streamline options for clinical trials.

I have also previously used a CRISPR/Cas9 DNA editing approach to mutate the Dopamine Transporter (DAT) in zebrafish to model the dopaminergic dysfunction disorder Dopamine Transporter Deficiency Syndrome (DTDS), in order to gain further insight into disease mechanism.