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Bardet-Biedl Syndrome (BBS): a disease of the cilium.
BBS patients suffer from a variety of symptoms including 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 cellular organelle projecting at the surface of the cell that is required for the transduction of Hedgehog and planar cell polarity signals and concentrates many signaling receptors. Fascinatingly, molecular defects in cilium biogenesis lead to a group of hereditary disorders (ciliopathies) characterized by obesity and skeletal malformations. 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.
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