81 Research Reflection by Sydney Brooksby

Faculty Mentor: Michael Werner (Biological Sciences, University of Utah)

As a Mosaic Turner Syndrome (TS) patient and a University of Utah Genomics student, I have found myself at the unique intersection of both living the clinical implications of TS and studying the genetic engineering that has allowed me to do so. While pursuing these studies, I have been participating in research from the beginning of my college career. From cancer biology at Huntsman Cancer Institute (HCI), to clinical vision research at John A. Moran Eye Center, to nuclear chemistry and isotopic production research at AZIsotopes, to an independent research project emphasizing SHOXa phenotypic recovery in Turner Syndrome patients – this project has been an honor to pursue as a patient and author.

As I became more enthralled with the thought of genetic engineering, a constant thought refused to let my mind rest: how incurable is incurable? I immediately began devoting, what would be two years of my college career and a lifetime of curiosity, exploiting the genes that result in the most significant, and therefore devastating, effects on monosomic and aneuploid patients, alike. From this inextinguishable inquiry, I confidently fixated on SHOX – a gene that dictates bone density and assists hormone secretion by harboring instructions for downstream genetic material. It was the challenge that I had been searching for, and I instantly become captivated with becoming an expert on this gene and how it relates to my condition.

With the assistance of Dr. Werner’s ongoing mentorship and encouragement, developing this literature-based proposal has furthered my interest in Hepatobiliary Transplant surgery with an emphasis in chromosomal abnormalities. From bench to bedside, from patient to future-provider, fostering scientific inquiry at the University of Utah has allowed me to truly live and learn “compassionate care without compromise” (University of Utah Health, n.d.).