Michael Waterfield, MD, PhD

Assoc Professor In Residence
M_PEDS-RHEUMATOLOGY
+1 415 353-7337

Autoimmune disease affects up to 5% of the population and can cause significant morbidity and mortality. Our labs main focus is to understand the basic mechanisms by which immune tolerance is broken in order to identify novel therapeutic targets for the treatment of autoimmune diseases. We utilize a variety of mouse models to study both central tolerance and peripheral tolerance. Central tolerance is the process by which autoreactive T cells are deleted in the thymus through negative selection. We are currently utilizing a variety of novel conditional knockout mice to study the roles of specific proteins in thymic tolerance.

A second area of active research in the lab is the role of effector T cells in autoimmune disease. One subtype of CD4+ effector T cell, termed T helper 17 (Th17) cells have been found to be important in the pathogenesis of multiple autoimmune diseases and Th17 cells have been targeted therapeutically for treatment. We have identified the activating transcription factor 7 interacting protein (ATF7ip) as a novel regulator of Th17 cell differentiation and are currently studying its mechanism of action in Th17 cells and other immune cells.

Publications

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.

Nature genetics

Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C, Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK