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.
Fighting Alpers’ Syndrome by Investigating the Development of its Particular Neurological Features
Alpers’ syndrome is an extremely rare paediatric mitochondrial disease affecting approximately 1 in 100,000 individuals. Clinically Alpers’ is characterised by severe drug-resistant epilepsy, liver failure and developmental regression. Most often the disease is caused by mutations to polymerase gamma, the enzyme responsible for replicating the mitochondrial genome.
My work will involve analysing post-mortem brain tissue from individuals who have suffered from Alpers’ syndrome to understand the neuropathological changes causing the severe neurological symptoms. I will be focussing on the role of astrocytes (a glial cell which has many neuroprotective functions within the central nervous system) and interneurons (which provide inhibition to neural circuits). To develop a cell model of Alpers’ pathology would also be extremely valuable for investigating the early pathological changes in the disease.
Sponsor/funder: Ryan Stanford Appeal