Bardet-Biedl Syndrome (BBS): a disease of the cilium.
BBS patients suffer from retinal degeneration (upper left), kidney malformations (lower right), obesity and polydactyly (upper right). Recently, we discovered that a core complex of BBS proteins (the BBSome) coordinates vesicular transport to the primary cilium (lower left).
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 approaches encompassing biochemistry, cell biology and in vitro reconstitution to study the molecular basis 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,..). Fascinatingly, molecular defects in cilium biogenesis lead to a variety of hereditary disorders (so-called "ciliopathies") characterized by retinal degeneration, kidney cysts, brain malformations, obesity, polydactyly, randomization of left-right asymmetry, etc. Our major goal is to characterize these ciliopathies at the molecular and cellular levels to gain insight into the basic mechanisms of primary cilium biogenesis and to discover novel ciliary signaling pathways.