I completed my undergraduate degree in Physiological sciences at Newcastle University. During this time, I became interested in autophagy, with my research project looking into the role of autophagy in senescence and ageing. Following this, I completed my MRes studies in biotechnology and biodesign and I was able to develop my computational skills, along with my understanding of genetic engineering. My PhD project focuses on a patient cohort harbouring distinct mutations in a core autophagy gene ATG7. I will utilise patient derived iPSCs to produce neural models to investigate the neurodegeneration associated with the ATG7 variants.
Investigating the consequences of impaired autophagy on neuronal development in iPSC derived neural models
Autophagy is a cellular degradation process important for recycling intracellular components. ATG7 plays a pivotal role in lipidating one of the key proteins required for macroautophagy. Pathological variants of ATG7 are associated with ataxia, cerebellar hypoplasia and posterior atrophy of the corpus callosum.
The aims of my project are:
- To expand our understanding of the relationship between ATG7 expression levels and the resulting defective autophagic phenotype using the pre-existing patient cohort, in combination with newly identified patients.
- To investigate the relationship between impaired autophagy, neuronal development and homeostasis using neural cultures differentiated from patient derived iPSC lines, and CRISPR/Cas9 corrected patient lines.
- To utilise RNA sequencing studies to elucidate the transcriptional landscape of ATG7-deficient neurones.
Sponsor/funder: The Pathological Society
Collaborators: Dr Thomas & Dr Fumi Suomi, Translational Stem Cell Biology and Metabolism Program, Research Programs Unit, and the Department of Anatomy, Faculty of Medicine, University of Helsinki