Unraveling the Mysteries of Novel, Rare Rheumatic Diseases – Part 2

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Inflammatory syndromes often have overlapping clinical manifestations, making them difficult to diagnose and categorize. Using a genome-first approach, researchers at the National Institutes of Health (NIH) have discovered an inflammatory disease called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS) that is caused by mutations in the UBA1 gene.

In this episode, Peter Grayson, MD, MSc, a study author on the recent paper published in the New England Journal of Medicine, gives us further insight into the discovery of the VEXAS syndrome and the overall importance of rare rheumatic disease research at a genetic and molecular level.

Read the full transcript for this episode here.

Featured Guest

Peter Grayson, MD, MSc, is board-certified in internal medicine and rheumatology. He completed his undergraduate degree from Brown University in 1999, his medical degree from the Medical University of South Carolina in 2004, and a masters in science from Boston University in 2008. Dr Grayson served as a chief resident in internal medicine at Boston Medical Center and completed an additional 2-year vasculitis fellowship with the Vasculitis Clinical Research Consortium.

Currently, an Earl Stadtman Investigator at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), Dr Grayson’s research focuses on clinical and translational research across many forms of systemic vasculitis. Specifically, his work has focused on biomarker discovery/development, the use of advanced molecular imaging, molecular classification of disease, clinical trials, and genetics/genomics of vasculitis. Dr Grayson’s group has clinically defined the use of advanced molecular imaging as a surrogate marker of vascular inflammation in large vessel vasculitis. His group has conducted some of the only translational work related to relapsing polychondritis, including the identification of somatic mutations in UBA1 as a driver of disease in a subset of these patients. Translational work by his group has also defined novel pathways of neutrophil-mediated inflammation in monogenic vasculitis and drug-induced vasculitis, and it has identified novel biomarkers of disease activity in many forms of vasculitis that suggest novel therapeutic targets.

Dr Grayson has a strong commitment to mentoring young investigators in rare disease research. He serves as the associate program director for the NIAMS Rheumatology Fellowship Program and he is the recipient of numerous teaching awards. He is actively involved in leadership roles within the American College of Rheumatology (ACR) and was a recipient of the ACR’s Distinguished Fellow Award in 2011. Dr Grayson has served on the editorial board for Arthritis & Rheumatology and The Journal of Rheumatology. He currently serves on the board of directors of the Vasculitis Foundation and is a steering committee member of the Vasculitis Clinical Research Consortium.