My group studies the molecular aspect of genetic diseases important for the Québec populations. Our current focus is on North American Indian childhood cirrhosis (NAIC) a form of cholestasis frequent in the Ojibway-Cri population of Abitibi. We identified the cirhin gene and the mutation responsible for the disease. Our studies now focus on animal models and in vitro function assays. The second major interest of the laboratory is congenital cardiac malformations. In a collaborative study with G.Andelfinger (Pediatrics) we used a complete genome scan with SNPs to study more than 40 multiplex families. The aim is to identify candidate genes responsible for left ventricular outflow track obstruction (LVOTO). The genes identified will then be studied with animal models.