Caspary Lab | Emory School of Medicine

Research Interests

Studying cilia-dependent signaling in mammalian development and homeostasis

Cilia have sparked huge interest in the past several decades, as the realization that their presence on virtually all vertebrate cells reflects their importance in cell communication. Cilia are microtubule-based projections templated by the basal body, a modified centrosome. Signaling components shuttle dynamically within cilia in response to stimuli. Defects in cilia-associated proteins lead to ciliopathies, a class of human disease that impact multiple organ systems exhibiting the critical role cilia play in human biology.

The Caspary lab uses mouse genetics to unravel the role of cilia-associated proteins in a variety of biological contexts. Starting with forward genetic screens for recessive mutations disrupting embryo morphology, we identified a cohort of mutants -- most of which impact cilia-associated proteins. Using these mutants as an entry point, we combine molecular biology, biochemistry, reverse genetics and imaging to uncover the mechanisms through which the proteins act within and outside of cilia.

Our work focuses on several big picture questions. First, what is the role of cilia and cilia-dependent signaling in specific organs and cell types? This work reveals that cilia are context dependent and show cell type and age specific behavior. Related to this, we ask what makes cilia distinct in different tissues at different times? Finally, we ask how specific cilia-associated proteins function at the mechanistic level within specific signaling pathways in individual tissues. Throughout this work, we are learning about the common and distinct features of cilia-dependent signaling.

Cilia Resource

An Excel-based tool (download file here) that compiles primary cilia-associated genes, their corresponding mouse and zebrafish alleles, and phenotypic data to help researchers identify and prioritize genes for study.