The Molecular Basis of Ciliopathies
The Nachury lab studies Bardet-Biedl Syndrome (BBS), a hereditary disease characterized by retinal degeneration, obesity, polydactyly, and polycystic kidneys. The root cause of Bardet-Biedl Syndrome is dysfunction of the primary cilium, a surface-exposed organelle required for vision, olfaction and developmental signaling. Pioneering biochemical and imaging studies by Dr. Nachury’s team have revealed that a complex of BBS proteins traffics signaling receptors out of cilia. The Nachury lab is now identifying the regulation of trafficking out of cilia by BBS proteins. A second research direction is aimed at cilia-derived extracellular vesicles (EVs). Ciliary signaling receptors that fail conventional exit are packaged into ciliary EVs. By dissecting the mechanisms of ciliary EV biogenesis, Nachury and colleagues will gain insight into the roles of these extracellular parcels in cell-cell communication.
Research in the Nachury lab is funded by the National Institute of General Medical Sciences (NIGMS), the National Eye Institute (NEI), Research to Prevent Blindness (RPB) and the America Diabetes Association (ADA). Dr. Nachury is the recipient of multiple awards including the 2020 Cogan award from the Association for Research in Vision and Ophthalmology (ARVO).
To Learn More:
Retinitis Pigmentosa or Retinal Degenerations, Cilia, Ciliopathies
Learn more about UCSF Ophthalmology faculty research.