Following completion of my undergraduate degree in Biomedical Sciences (BSc Hons) and Masters’ of Research in Neuroscience (MRes) at Newcastle University, I joined the Wellcome Centre for Mitochondrial Research in 2018 to undertake a PhD. I am now a Post-Doctoral Research Associate funded by the Ryan Stanford Appeal.
My research interests include understanding the mechanisms associated with severe neurological impairment in patients with mitochondrial disease, with a focus on mitochondrial epilepsy. My research to date has employed post-mortem brain tissues from patients with POLG-related disease to perform detailed neuropathological studies.
Delineating the mechanisms underpinning neurodegeneration and epilepsy in Alpers’ syndrome.
Alpers’ syndrome is an early-onset form of POLG-related mitochondrial disease characterised by drug-resistant epilepsy, neurodevelopmental delay and liver failure. The occipital-predominant epilepsy in Alpers’ syndrome is associated with severe neurodegeneration which leads to rapid neurological decline and premature death.
Using brain tissues donated from patients with Alpers’ syndrome, my research aims to delineate the mechanisms underpinning epilepsy and neurodegeneration in POLG-related disease. Over the past few years, I have identified crucial changes to inhibitory interneurons and astrocytic abnormalities which may be critical for the pathogenesis of epilepsy in POLG-related disease.
My ongoing research is also focussed on modelling the neuropathophysiological features of POLG-related disease using novel in vitro brain slice platforms. We hope this work will lead to (1) a better understanding of early stages of POLG-related disease pathogenesis, and (2) identification of effective therapeutic targets for this devastating mitochondrial disease.
Sponsor/funder: Ryan Stanford Appeal
- Small grant awarded by the British Neuropathological Society, 2022.
- First prize winner of the Gowers Medical Essay Award, International League Against Epilepsy (ILAE) British Branch, October 2019.
- Second prize winner of the Best Talk at the 3rd FMS Post-Doctoral Symposium 2022, Newcastle University.
- First prize winner of the North East Neuroscience Annual Conference, December 2022.
- Faculty of Medical Sciences post-submission scholarship awarded to fund a three-month internship in Professor Mark Cunningham’s laboratory (Trinity College Dublin), 2022.