Current Research and Scholarly Interests
Our laboratory investigates the molecular principles of primary cilium assembly and function. Shaped like an antenna projecting out of the cell, the primary cilium exposes receptors for diverse stimuli (like platelet-derived growth factors, Hedgehog morphogens and olfactory cues) and concentrates their downstream signaling machinery to send specific molecular responses back into the cell. Despite these fascinating properties, the cilium has historically been the least studied cellular organelle and most of the fundamental questions concerning cilium biogenesis and function remain unanswered. Nowhere is our knowledge gap more striking than for the ciliopathies, a class of inherited disorders of the cilium whose central features include obesity, kidney malformations and retinal degeneration. We thus intend to uncover the molecular machines that build cilia and convey information into and out of cilia by applying proteomics, cellular imaging and in vitro reconstitution assays to entry points provided by human genetics.