Melissa MacPherson

I am a medical geneticist with a strong and diverse background in the basic sciences. My current research interests are in the fields of rare disease and precision medicine. I am interested in characterizing new genetic syndromes that affect pediatric patients and the developing fetus. My interests lie in delineating the phenotype of these new syndromes and in working in collaboration with basic science researchers to understand the molecular mechanisms underlying these new conditions. This approach not only informs us regarding basic developmental pathways but also helps to identify potential therapeutic targets for clinical trials.

I am also interested in the broader applications of genomics, transcriptomics and proteomics to the diagnostic workup of patients with rare diseases and their applications in precision medicine. I believe that the clinical use of these cutting edge technologies will lead to rapid diagnosis and improved patient outcomes.

I am currently involved in an international collaboration characterizing a new genetic neurodevelopmental disorder. Children with this condition have seizures, neuronal migration defects, speech delays and intellectual disability. Our group has been phenotyping the first cohort of patients. We are also collaborating with Dr. Guang Yang, a basic researcher from the University of Calgary, to understand the molecular mechanisms behind this disorder with a goal of identifying potential therapeutic intervention for our patients