Bardet-Biedl Syndrome: a disease of the cilium.
The Nachury Lab is part of the department of Molecular and Cellular Physiology at Stanford University School of Medicine.
Our lab is interested in using a combination of interdisciplinary approaches encompassing protein biochemistry, cell biology, in vitro assays, digital microscopy and mammalian cell engineering to study the molecular etiology of complex hereditary human diseases.
A major focus of the lab is the study of the primary cilium, a once-obscure cellular organelle that has recently been "re-discovered" for its role in a number of signaling pathways (Hedgehog, Planar Cell Polarity, PDGF,..). Most fascinatingly, molecular defects in cilium biogenesis lead to a variety hereditary disorders (so-called "ciliopathies") characterized by retinal degeneration, kidney cysts, obesity, polydactyly, randomization of left-right asymmetry, etc. Our goal is to characterize these ciliopathies at the molecular and cellular levels using state-of-the art proteomics and microscopy. This approach has already proven successful in the case of Bardet-Biedl Syndrome (see figure) and led to the discovery of a protein complex involved in vesicular transport to the primary cilium.