At the Julia Garnham Centre (JGC), Sheffield Children's NHS Foundation Trust & University of Sheffield in Partnership, I trained in rare-disease variant classification and interpretation using the ACGS Guidelines (2024). I applied population, computational, clinical, and literature evidence to support variant assessment and reclassification.
For my MSc Research Project, I classified PRRT2 clinical variants using ACGS 2024 guidelines and genomic evidence. I also established and optimised a molecular workflow for an NMD reporter assay, including PRRT2 PCR amplification, DNA purification, and ligation.
In my MSc Laboratory Project, I applied CRISPR/Cas9-mediated gene disruption targeting MET15 in Saccharomyces cerevisiae using homologous recombination. My laboratory experience also includes cytogenetics, cell culture, molecular biology, and R-based statistical analysis and data visualization.
