This is my fifth year at Newcastle University after completing my undergraduate degree in Biomedical Sciences and a Masters of Research in Neuroscience. I have a keen interest in understanding how neural circuits become impaired under pathological conditions resulting in severe neurological symptoms. I am excited to be a member of the Mitochondrial Research Group investigating the neuropathological features of Alpers’ syndrome.
Understanding the mechanisms of neurodegeneration in Alpers’ syndrome
Alpers’ syndrome is a severe, life-limiting, paediatric mitochondrial disease characterised by a clinical triad of intractable epilepsy, developmental regression and hepatic failure. The drug-resistant seizures patients suffer from are extremely severe and persistent leading to fatality within a few years of the initial epileptic presentation. This highlights the need to elucidate the mechanisms underlying the neuropathological features and altered inhibitory neurotransmission in post-mortem brain tissue from Alpers’ syndrome patients.
- To explore the central nervous system cell-specific and region-specific differences in mitochondrial DNA copy number in Alpers’ syndrome.
- To investigate the changes in inhibitory interneurons and excitatory pyramidal neurons which underlie the hyperexcitable neural networks in Alpers’ syndrome.
- To determine how changes in astrocytic function and structure may contribute to neuronal dysfunction and neuronal loss.
- To develop an in vitro cell model of Alpers’ syndrome neuropathology to further our understanding of the relationship between astrocytic dysfunction and neuronal loss.
Sponsor/funder: Ryan Stanford Appeal