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Melissa MacPherson is a medical geneticist with a strong and diverse background in basic sciences. Her current research interests focus on rare diseases and precision medicine, specifically in characterizing new genetic syndromes affecting pediatric patients and developing fetuses. Her work involves delineating phenotypes of new syndromes and collaborating with basic science researchers to understand the molecular mechanisms underlying these conditions. This approach informs her research on basic developmental pathways and helps identify potential therapeutic targets for clinical trials. Dr. MacPherson is also interested in the broader applications of genomics, transcriptomics, and proteomics for the diagnostic workup of patients with rare diseases, believing that the clinical use of cutting-edge technologies can lead to rapid diagnosis and improved patient outcomes. Currently, she is involved in an international collaboration aimed at characterizing a new genetic neurodevelopmental disorder characterized by seizures, neuronal migration defects, speech delays, and intellectual disabilities. This project includes a cohort of patients being phenotyped in cooperation with Dr. Guang Yang, a basic researcher at the University of Calgary, to better understand the molecular mechanisms of this disorder and to identify potential therapeutic interventions for affected patients.
Department: Mechanical Engineering and Engineering Management