Faculty ProfilesMark Anderson, MD, PhD
MD: MD, PhD, University of Chicago, 1994
Residency: University of Minnesota, MD, Internal Medicine, 1994-1997
Chief Resident, University of Minnesota 1997-1998
Fellowship: Massachusetts General Hospital, Adult Endocrinology, 1998-2001
Board Certification: Endocrinology and Metabolism, 2001, Renewed 2012
The main research interest of our laboratory group is to examine the genetic control of autoimmune diseases to gain a better understanding of the mechanisms by which immune tolerance is broken. A major focus of our lab group is a human autoimmune syndrome called Autoimmune Polyglandular Syndrome Type 1 (APS1 or 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 defective gene has been 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. Through the use of the mouse model we, along with others, have determined that Aire plays an important role in immune tolerance by promoting the expression of many self proteins in specialized antigen presenting cells in the thymus called medullary epithelial cells (mTEC's).
Recently, we have determined that this process is not only critical in the thymus, but also in peripheral lymphoid organs. Current studies in the lab are directed at further understanding the relative contribution of specialized Aire-expressing cells to immune tolerance in multiple autoimmune disease models. In addition to these ongoing studies, our laboratory is also interested the pathogenesis of autoimmune diabetes and in developing other models of autoimmune disease by using transgenic, knockout, and knock-in approaches.
Type 1 diabetes and associated autoimmune disorders
Awards and Honors
American Association of Physicians, 2016
Byers Award in Basic Science, UCSF, 2012
Robert B. Friend and Michelle M. Friend Endowed Chair in Diabetes Research, 2009
American Society of Clinical Investigation, 2009
Pew Scholar, 2004
Recent Articles (10)
Simeonov DR, Gowen BG, Boontanrart M, Roth TL, Gagnon JD, Mumbach MR, Satpathy AT, Lee Y, Bray NL, Chan AY, Lituiev DS, Nguyen ML, Gate RE, Subramaniam M, Li Z, Woo JM, Mitros T, Ray GJ, Curie GL, Naddaf N, Chu JS, Ma H, Boyer E, Van Gool F, Huang H, Liu R, Tobin VR, Schumann K, Daly MJ, Farh KK, Ansel KM, Ye CJ, Greenleaf WJ, Anderson MS, Bluestone JA, Chang HY, Corn JE, Marson A. Discovery of stimulation-responsive immune enhancers with CRISPR activation. Nature. 2017 Aug 30.
Caro L, de Hoon J, Depré M, Cilissen C, Miller J, Gao W, Panebianco D, Guo Z, Troemel SL, Anderson MS, Uemura N, Butterton J, Wagner J, Wright DH. Single-Dose and Multiple-Dose Pharmacokinetics of Vaniprevir in Healthy Men. Clin Transl Sci. 2017 Aug 10.
Li D, Streeten EA, Chan A, Lwin W, Tian L, Pellegrino da Silva R, Kim CE, Anderson MS, Hakonarson H, Levine MA. Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism. J Clin Endocrinol Metab. 2017 May 01; 102(5):1726-1733.
Sagan SA, Winger RC, Cruz-Herranz A, Nelson PA, Hagberg S, Miller CN, Spencer CM, Ho PP, Bennett JL, Levy M, Levin MH, Verkman AS, Steinman L, Green AJ, Anderson MS, Sobel RA, Zamvil SS. Tolerance checkpoint bypass permits emergence of pathogenic T cells to neuromyelitis optica autoantigen aquaporin-4. Proc Natl Acad Sci U S A. 2016 Dec 20; 113(51):14781-14786.
Proekt I, Miller CN, Jeanne M, Fasano KJ, Moon JJ, Lowell CA, Gould DB, Anderson MS, DeFranco AL. LYN- and AIRE-mediated tolerance checkpoint defects synergize to trigger organ-specific autoimmunity. J Clin Invest. 2016 Oct 03; 126(10):3758-3771.
Landegren N, Sharon D, Freyhult E, Hallgren Å, Eriksson D, Edqvist PH, Bensing S, Wahlberg J, Nelson LM, Gustafsson J, Husebye ES, Anderson MS, Snyder M, Kämpe O. Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1. Sci Rep. 2016; 6:20104.
Malhotra D, Linehan JL, Dileepan T, Lee YJ, Purtha WE, Lu JV, Nelson RW, Fife BT, Orr HT, Anderson MS, Hogquist KA, Jenkins MK. Tolerance is established in polyclonal CD4(+) T cells by distinct mechanisms, according to self-peptide expression patterns. Nat Immunol. 2016 Feb; 17(2):187-95.
LaFlam TN, Seumois G, Miller CN, Lwin W, Fasano KJ, Waterfield M, Proekt I, Vijayanand P, Anderson MS. Identification of a novel cis-regulatory element essential for immune tolerance. J Exp Med. 2015 Nov 16; 212(12):1993-2002.