1. Biogenesis of Primary Cilia Primary cilia are microtubule-based organelles essential for early development and tissue homeostasis. They form from the mother centriole through a process called ciliogenesis, which involves a series of intracellular trafficking events. Our laboratory uses biochemical and molecular biology approaches, including state-of-the-art fluorescence microscopy, to identify novel regulators of cilia assembly.

2. Ciliopathy: Bardet-Biedl Syndrome Dysfunction of primary cilia leads to ciliopathies, such as Bardet-Biedl syndrome, characterized by developmental delays, skeletal anomalies, heart defects, and kidney cysts. We are interested on identifying new genes and genetic variants associated with ciliopathies using a CRISPR-Cas9-based cell line disease models and patient-derived cells models to investigate disease pathogenesis and to explore potential rescue therapy.