Hereditary ciliopathies

We are actively investigating novel genes that may be associated with the genetic condition primary ciliary dyskinesia. The primary goal is to characterize the functional, ultrastructural and genetic defects of respiratory cilia in children with suspected primary ciliary dyskinesia. The function of novel proteins identified are then investigated as part of the overall motile cilia assembly and function.

Motile cilia assembly

Motile cilia are unique evolutionary conserved structures. In unicellular organisms, the cilia (also called flagella) are used to propel the organism. In mammals, motile cilia are abundant in the airways, brain ventricles, sinuses, sperm and fallopian tubes.

One focus of the lab is how cilia are assembled and what happens when mutations occur. We employ microscopy and genetic manipulation models to “dissect” the different steps required for assembly.

Transcriptional regulation of airway cells

Multiciliated airway cells are complex and need to undergo a multistep differentiation process, which may be perturbed during disease. Our lab used advanced tools, including single cell RNA sequencing tools, to evaluate the transcriptional profile of multicilaited airway cells during normal differentiation and as the result of disease.