Our lab is aiming to understand the genetic basis and molecular mechanisms underlying ciliopathies. Ciliopathies are a heterogeneous group of human genetic diseases including Bardet-Biedl syndrome (BBS), Meckel-Gruber syndrome (MKS), Nephronophthisis (NPHP), Joubert syndrome (JS), polycystic kidney disease (PKD) and retinitis pigmentosa (RP) and they often possess pleiotropic and overlapping phenotypes (such as liver cysts, skeletal defects, polydactyly, brain anomalies, retinal degeneration, cysts in the kidney and cognitive impairment).
Double staining: Cilia labelling could be observed for IFT57 (Red, CHE-13) in the ciliated sensory PHA/PHB neurons.Marker labelled in red is a ciliary marker. A new ciliary gene (Green) co-localized with IFT57 (Red).
Ciliopathies are caused by defects in the cilia structure or function. Cilia are highly conserved microtubule-based organelles. For this reason, we employ the nematode C. elegans to characterise the roles of ciliopathy-associated genes. We have been using CRISPR/Cas9 gene editing technology to model human diseases in C. elegans . With the help of CRISPR, we have recently generated our first CRISPR mutant and are currently performing functional analysis of a novel ciliary gene