The 2020 Healthcare Otago Charitable Trust Summer Research Scholar
Project: investigating genetic variants in Māori/Pacific populations that associate with gout
Supervisor: Prof Julia Horsfield, Pathology
Gout is an inflammatory arthritis that disproportionately affects Māori and Pacific populations in Aotearoa. Assigning causation to genetic variants associated with gout is particularly problematic when they are found outside of protein-coding genes, and in gene regulatory regions (RRs).
I will characterise genetic variants at RRs that are unique to Māori and Pacific and are associated with gout through an unknown mechanism. I will determine how the variant alleles affect the ability of RRs to drive tissue-specific gene expression using zebrafish embryos, and how these alleles affect the magnitude of gene expression using luciferase assays.