Mechanisms of cell-cell signaling in normal development and neurodegenerative disease
Research in my lab is focused on how cells receive extra-cellular signals, organize them within the cellular space and transduce them into a downstream response. Specifically, we are interested in the biology of the primary cilium, a microtubule-based organelle that plays important chemo- and mechano-sensory roles in cells. Mutations in genes that affect the structure and function of the primary cilium cause a broad spectrum of human disease conditions, collectively termed “ciliopathies”. These include developmental defects such as cystic kidneys and livers, polydactyly and cancer. Moreover, these mutations typically result in neurodegenerative and neurocognitive defects that include mental retardation, dyslexia, obesity, microcephaly and retinal degeneration. Our work is focused on understanding how this organelle functions during normal development, and how it is affected in the disease states listed above.