Our Research
Cilia are tiny, hair-like structures that extend from the surface of nearly every cell in our body. Though small, they perform critical functions—acting as cellular antennae that sense the environment and, in some cases, generating important fluid flows within our bodies. When cilia don't work properly, the consequences can be devastating. Ciliopathies—genetic disorders affecting cilia structure or function—can cause birth defects, blindness, intellectual disability, kidney failure, and infertility. While we know hundreds of genes are involved in building and maintaining cilia, we understand surprisingly little about how specific genes control different ciliary functions across the diverse array of cell types in our bodies.
Our lab combines cutting-edge genetics with advanced molecular and cellular biology to answer fundamental questions:
How do cells build the basic machinery needed for cilia to function?
How is this core program adapted for specialized tasks in different cell types, like the coordinated beating of cilia in our airways?
What can gene variants causing human disease teach us about how cilia work?
Can we use "genome surgery" to fix broken genes—and are ciliopathies reversible?
Our Approach
Discovering new genes: We use powerful genetic screens—both forward genetics in animal and cell-based models—to identify genes essential for cilia function and understand what happens when they fail.
Understanding human disease: Working closely with clinical genetics partners, we identify disease-causing changes in the DNA of ciliopathy patients. Using CRISPR genome editing, we recreate these variants in the lab to understand exactly how they disrupt cilia function. By integrating advanced microscopy, transcriptomics, and proteomics, we're building a comprehensive picture of disease mechanisms—knowledge that could lead to better clinical care and potential treatments.
Seeing cilia in action: Cilia are tiny and dynamic, making them challenging to study. We're developing innovative imaging approaches using confocal, super-resolution, and electron microscopy to capture ciliary events with unprecedented detail across time and space.
Developing genome-based therapies: We're pioneering methods to understand how different cells respond to genome editing—a crucial step toward using this technology therapeutically. Our novel genome editing reporters track editing events in real time, helping us optimize strategies for correcting genetic diseases like ciliopathies directly in patients.
Through this multifaceted approach, we're working toward a future where ciliopathies can be not only managed, but potentially cured.