Assistant Professor, The Ohio State University
My overall research goal is to explore the pathophysiology to enable specific therapies for metabolic genetic conditions to improve to improve the lives of the patients. I was awarded the 2015 Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars scholarship and 2014-2015 Lysosomal Disease Network Fellowship to perform a research on phenotype prediction of Pompe disease. Through the Certificate Training course in Rare Disease Research, I learned unique issues of conducted research on rare diseases. I was awarded with The William and Mary Oh-William and Elsa Zopfi Pediatrics for Perinatal Reseach Award and Advance-CTR 2017 Pilot Projects Program Award to explore potential modifier gene pathways that may alter the immunological response to synthetic enzyme replacement in patients with Pompe disease. I direct a Medical Biochemical Genetics fellowship at Nationwide Children's Hospital. Current research interests include identifying inborn errors of metabolism due to a repeat expansion using genome sequencing data.