CENTRIOLE-CILIA-Cytoskeleton

Microtubules play a central role in nearly every cellular process, from cell division and structural organization to intracellular transport and signaling. Our lab focuses on two specialized, microtubule-based structures: centrioles and cilia.

Centrioles are essential for centrosome assembly, organizing the cytoskeleton and mitotic spindles, ensuring accurate cell division and polarity. Cilia, on the other hand, are dynamic, antenna-like projections that are vital for both cellular signaling and motility across tissues. Disruption of either centrioles or cilia can have broad consequences, leading to a range of syndromic disorders, including congenital heart defects (CHD), primary ciliary dyskinesia (PCD), and neurodevelopmental diseases such as microcephaly and autism.

We study how centrioles and cilia are assembled, maintained, and regenerated using Xenopus multiciliated cells as our primary model. We combine CRISPR genome engineering, quantitative live imaging, electron microscopy, and mathematical modeling to uncover the molecular rules governing organelle biogenesis. This fundamental science program is the mechanistic foundation for everything else we do.

RARE DISEASE Genomic

Genetic sequencing can identify variants. It cannot always tell you what they mean. For families facing a rare disease diagnosis, a "variant of uncertain significance" is not an answer; it is a question mark that can follow them for years.

We take on that question. Using a multi-tier functional platform, including Xenopus organism-based screening, human cell validation, and AI-driven structural analysis like AlphaFold modeling and machine learning, we systematically test patient variants to determine whether they are disease-causing or benign. Computational predictions help prioritize which variants to test; experimental results improve our models. Our work covers both motile and sensory ciliopathies, addressing a wide range of diseases caused by cilia dysfunction.

This approach has already led to new disease gene discoveries, reclassified variants that confused diagnostic labs, and revealed how the same gene can cause different clinical outcomes in different tissues.

If you want to work at the intersection of cell biology, human genetics, and precision medicine, where your experiments directly impact patient diagnoses, this is the place.