Projects

Hereditary ciliopathies

The primary goal of this project is to characterize the functional, ultrastructural, and genetic defects of respiratory cilia in children with suspected primary ciliary dyskinesia.


Motile cilia assembly

Motile cilia are essential for lung defense, as evidenced by primary ciliary dyskinesia (PCD), a genetic disease of childhood. PCD is characterized by impaired motile cilia resulting in respiratory distress at birth, followed by sinopulmonary disease and bronchiectasis, which can lead to respiratory failure. We have identified individuals with PCD harboring mutations in genes encoding cytoplasmic proteins that belong to a newly recognized set of “cilia preassembly proteins”. The goal of this project is to identify regulatory pathways used to assemble motile cilia including those for preassembly and satellite protein-associated trafficking and intraciliary motor docking.


Control of ciliogenesis in airway epithelial cells.

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