Jacklyn N. Hellwege, PhD
Research Assistant Professor, Department of Medicine, Division of Genetic Medicine
My research focuses on localizing genetic predisposition to renal diseases and their relationships with hypertension and diabetes complications in diverse populations. I also have an interest in women’s health research and the role of genetics in reproduction-related phenotypes. Overall, my work aims to understand the genetic architecture and biological mechanisms underlying disease outcomes with the goal of translating findings to aid in developing precision treatment strategies. My current projects emphasize extending GWAS to discover disease relationships with predicted gene expression across tissues and clinical phenome-wide association of polygenic risk scores.
Dr. Hellwege’s projects focus on genetic association analyses of exome- and genome-wide array data, as well as large-scale sequencing data, for a wide variety of phenotypes, particularly those derived from electronic health records. Phenotypes of particular interest include uterine fibroids, keloid scars, and other fibroproliferative traits, in addition to several collaborative association studies encompassing the broad spectrum of cardiometabolic phenotypes. Her previous work was focused on the integration of two-point linkage analysis with contemporary large-scale genotype information and association analysis to identify high-impact functional variants. Additional methods she has employed include gene-based association for low-frequency variants, meta-analysis, interaction analysis (epistasis), and construction of polygenic genetic risk scores. She is particularly interested in genetic research of diseases that disproportionally impact minority health. Dr. Hellwege did her undergraduate work at Appalachian State University (BS, 2009) and her doctoral training at Wake Forest University (PhD, 2014).