Kia ora, my name is Michaela Hughes and I’m completing my PhD in the Department of Biochemistry at the University of Otago. I hold a BSc(Hons) with first-class honours in Genetics and a DipGrad endorsed in Statistics. My research is working to identify early genetic events in hereditary diffuse gastric cancer (HDGC). Māori are disproportionately affected by HDGC due to some whānau carrying genetic mutations in the CDH1 gene. These mutations give individuals up to a 70% lifetime risk of developing diffuse type stomach cancer, a particularly aggressive type of cancer. Biological females with CDH1 mutations also have up to a 40% lifetime risk of developing lobular breast cancer.
Those with CDH1 mutations are currently offered yearly endoscopies to look for evidence of stomach cancer, however these don’t reliably detect this type of cancer. The alternative option is removal of the stomach, an invasive surgery with subsequent effects on quality of life.
My research aims to identify biological differences between cells with and without CDH1 mutations, using single-cell sequencing and computational genomics. We hope these differences can provide a path towards alternative prevention and treatment options for individuals with HDGC.