Bardet-Biedl Syndrome: a disease of the cilium.
Bardet-Biedl Syndrome (BBS) patients suffer from retinal degeneration (upper left), kidney malformations (lower right), obesity and polydactyly (upper right). A proteomics and cell biological analysis of BBS has led to the discovery of a core complex of BBS proteins (the BBSome) involved in the tranpo
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 of hereditary disorders (so-called "ciliopathies") characterized by retinal degeneration, kidney cysts, brain malformations, 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.