Research Assistant, Division of Psychological Medicine and Clinical Neurosciences
Since January 2019, I have been working in the Alzheimer’s Disease Research Team at Cardiff University. My role is to contribute to exciting and important research investigating genetic susceptibility in Alzheimer’s Disease.
Previously, I conducted research and completed my PhD at the Wellcome Centre for Mitochondrial Research at Newcastle University. Using whole exome sequencing, I aimed to attain genetic diagnoses in two patient cohorts with clinically and biochemically well-defined, genetically undetermined mitochondrial disease: (i) adult-onset progressive external ophthalmoplegia (PEO) with skeletal muscle restricted multiple mitochondrial DNA deletions; (ii) early-onset mitochondrial respiratory chain deficiencies characterised by heterogeneous phenotypes. I developed custom filtering strategies for each cohort, leading to diagnoses in known mitochondrial disease genes and proposed novel candidate genes involved in mitochondrial translation, mtDNA maintenance, nucleotide metabolism and mitochondrial dynamics.
I continue to retain a strong interest in mitochondria function and hope to use my expertise to further explore the association between mitochondria and Alzheimer's Disease in future.