Aberrant N-glycosylation may be a therapeutic target in carriers of a common and highly pleiotropic variant in the manganese transporter ZIP8
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Dr. Melia will discuss the evidence supporting a role for manganese dyshomeostasis in carriers of a common missense variant in the manganese transporter SLC39A8/ZIP8. Manganese is a critical co-factor for the metalloenzymes of the N-glycosylation cascade, with reduced availability of Mn inducing disordered N-glycosylation. She will discuss how dysregulated N-glycosylation is a feature of Crohn’s disease and why targeting the defect in glycosylation may represent a novel therapeutic target, especially in individuals who carry the variant in ZIP8.
Joanna Melia, MD
Associate Professor
Johns Hopkins School of Medicine
Joanna Melia, MD is an Associate Professor of Medicine at Johns Hopkins School of Medicine. She earned her medical degree at Mayo Clinic College of Medicine, training in internal medicine at Johns Hopkins Hospital in the Osler Medical Residency program where she also served as a chief resident, and training in general gastroenterology and hepatology with advanced training in inflammatory bowel diseases at Massachusetts General Hospital. Dr. Melia is a physician-scientist. She is an NIH-funded investigator with an R01 studying the functional implications of a pathologic variant in the manganese transporter ZIP8 (rs13107325; ZIP8 A391T). She is supported by the Helmsley Charitable Trust to run a multi-center clinical trial for the treatment of Crohn’s disease using genetic stratification by ZIP8 genotype. In addition to research and clinical work, she is active in teaching and mentoring as the fellowship director of the Johns Hopkins advanced inflammatory bowel disease fellowship and as the Associate Program Director for Research for the Johns Hopkins Gastroenterology fellowship. She lives in Baltimore with her husband, Michael, and two children, Walter and Lauren.