Biography
I am an early career researcher specializing in the genetics of gout and other complex disease, genomics, and bioinformatics. I have specific expertise in the identification of GWAS-linked eQTL, as well as in using molecular tools developed in human cell lines and the model organism Zebrafish to translate these QTL into biology. I completed my undergraduate, pre-doctoral and postdoctoral training at the University of Otago (New Zealand). I moved to the United States in 2021 and I am an Instructor in the Division of Clinical Immunology and Rheumatology at the University of Alabama at Birmingham developing my independent research portfolio. Since I joined UAB, my research work has been focused on translating non-coding associations identified in an extremely large genome-wide association study in gout.
Research Summary:
Gout, an inflammatory arthritis, is the most common arthritis in the US. The crystals that cause the gout flare activate a molecular stress sensor called the NLRP3 inflammasome. Activation of NLRP3 leads to secretion of immune signals called cytokines and an influx of immune cells into the affected joints. We have found that many genes that are linked to gout are involved in metabolic pathways. Here we will investigate whether two of these genes FADS2 and TMEM176B are 1. involved in immune cell metabolism and 2. whether genetic variants of these genes can alter the magnitude of the immune response. We will also carry out gene expression studies to identify additional target genes that are important in gout pathogenesis. The impact of this research is the development of functional pipeline that tests how genetic variation can influence immune cell metabolism and lead to gout. This pipeline could be applied to numerous genes and genetic variants to identify novel targets that could be used to develop therapeutics to treat and prevent acute gout flares.
