IRCM Researchers

The ultimate goal of the laboratory is to understand the mechanisms that regulate bone homeostasis. Throughout life, equilibrium between two opposite phenomena, bone formation and bone resorption, has to be maintained. When osteoclast activity is affected severe diseases such as osteoporosis and osteopetrosis can occur. Particularly, osteopetrosis is observed when osteoclast cells are deficient or absent, thereby causing an excess of bone mass and a severe reduction of the bone marrow cavity, leading to a deficit in the hematopoietic system and increased susceptibility to infections. In humans and mice, the most severe form of this disease is associated with mutations in the Ostm1 gene.

To gain insights into osteopetrosis, the team studies the grey-lethal Ostm1 null mouse model that reproduces the human infantile and most severe form of this disorder. In addition to its role in bone tissue, we have been able to demonstrate that the Ostm1 gene is essential to the immune system and the central nervous system including the retina. Using complementary genetic engineering, biochemistry and proteomics approaches, we want to characterize the molecular and cellular mechanisms involved in tissue interactions to identify therapeutic targets.