Mark S. Anderson, M.D., Ph.D.

Research

Our group is broadly interested in understanding how immune tolerance is controlled and its relationship to autoimmune diseases. The main research interest of our laboratory group is to examine the genetic control of autoimmune disease to gain a better understanding of the mechanisms by which immune tolerance is broken. Recently, we generated a mouse model of a human autoimmune disease called APECED, which is classically manifested by an autoimmune attack directed at multiple endocrine organs. This disease is inherited in a monogenic autosomal recessive fashion and the causative gene was identified and is called Aire (for autoimmune regulator). Aire knockout mice, like their human counterparts, develop an autoimmune disease that is targeted to multiple organs. Interestingly, we can ascribe one of the primary defects in these mice to the thymus gland. Specifically, it appears that Aire helps protect against autoimmunity by helping direct the ectopic transcription of multiple self-antigens in thymic medullary epithelial cells. Studies in our laboratory are ongoing on this interesting model of autoimmune disease looking in greater detail how this defect results in the breaking of immune tolerance and what genes may interact with the Aire gene to protect against or worsen autoimmunity.