NIH Demystifying Medicine: Somatic Mutations in “Benign” Diseases – Somatic Mutations in Rheumatologic Diseases: VEXAS And Beyo

Somatic mutations are alterations in DNA that occurs after conception in any of our cells except the germ cells (sperm and egg) and thus not passed on to children. As these acquired mutations accumulate, they can cause disease.

Neal Young leads the Cell Biology Section in the National Heart, Lung, and Blood Institute (NHLBI). His lab spans the basic sciences, clinical trials, and epidemiology, and his research has transformed the understanding and treatment of bone marrow failure. Moreover, Young has mentored a multitude of trainees who now head departments of hematology worldwide.

Young will talk on the role of acquired mutations in diseases other than cancer. The title of his presentation is “Somatic Mutations in ‘Benign’ Diseases.”

Peter Grayson is a tenure-track investigator who leads the Vasculitis Translational Research Program in the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). His lab, established in 2013, seeks to identify factors that cause vasculitis, which is characterized by an inflammation of blood vessels. Grayson hopes to find biomarkers that can predict clinical outcomes and guide patient-specific therapeutic decisions.

The title of his presentation is “Somatic Mutations in Rheumatologic Diseases: VEXAS and Beyond.” Spoiler alert: The S in VEXAS stands for somatic.

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