Education:
PhD, Cellular Biology, University of Georgia, Athens, GA
Postdoctoral Fellowship, Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA
Clinical/Research Interests:
Primary cilia project from nearly every human cell, functioning as cellular antennas that receive and interpret signals, allowing cells to respond to their environment. These minuscule projections represent ~1/10,000th of a cell’s volume. Long thought to be vestigial organelles, we now know that loss of cilia is incompatible with human life. Dysfunctional cilia give rise to ciliopathy disorders, which exhibit overlapping clinical features, including developmental delay, intellectual disability, polydactyly, retinal dystrophy, and progressive involvement of the kidney and liver. While individually rare, ciliopathies combined affect 1/500 individuals. Most of our understanding of ciliary biology comes from model systems, such as the unicellular algae Chlamydomonas reinhardtii, as the structure of these organelles is remarkably conserved. We are interested in understanding how the complex machinery of cilia functions through the lens of cell biology and human genetics, using human cells and Chlamydomonas as models. We use ciliopathies as a platform to understand normal ciliary function and dysfunction in disease by studying 1) the function of newly identified disease-related proteins and their role in pathophysiology, 2) the underlying cellular dysfunction of ciliopathies, and 3) ciliary signaling and cascade missteps in disease. We use microscopy, proteomics, human genetics, genome engineering, and signaling pathway analysis to gain new insights into cilia biology and the mechanisms underlying disease.