Primary cilia are filamentous projections that are highly conserved across eukaryotes and present on the surface of most human cells. Following their discovery in the mid-19th century, primary cilia have been largely dismissed by researchers as “vestigial” cellular appendages until the early 2000s. It was then that the signaling function of the primary cilia was extensively demonstrated. Now we know that primary cilia mediate transduction of all major signaling pathways and are essential for development and tissue homeostasis in vertebrates including humans.
Due to the key role of cilia in signal transduction and their nearly ubiquitous presence on human cells, cilia dysfunction results in pleiotropic genetic disorders called ciliopathies that affect most organ systems and tissues. Although considerable progress has been made in cataloging structural constituents of primary cilia, much remains to be discovered about the signaling mechanisms that modulate different aspects of cilia biology. Our research is centered around the following questions that are critically relevant to human health:
1. What are the signaling mechanisms that regulate cilia assembly and function in neurons?
2. What are the molecular mechanisms of cilia membrane biogenesis?
3. How does the cilium interact with other cellular compartments to shape neuronal properties under normal physiological conditions and in the context of neurodevelopmental disorders?
To address these research questions, we use the power of genetics afforded by C. elegans and D. melanogaster. One key advantage of using these organisms for cilia research is the fact that only a subset of sensory neurons is ciliated in worms and flies. As a result, unlike in mammals, cilia genes are not required for viability in C. elegans or D. melanogaster making them excellent in vivo systems for investigations into cilia biology.