Dr. Lefebvre investigates the genetic mechanisms that generate the diversity of cell types composing the body. Her emphasis is on deciphering how proteins called SOX transcription factors specify stem cells and highly specialized cells in the skeleton, how changes in these factors cause skeletal diseases, and how these factors also control other processes, including brain development and intellectual disability diseases.
Understanding the mechanisms by which the skeleton forms and grows in healthy babies and children and using this information to uncover the pathogenesis of rare and common musculoskeletal disorders by working with animal models of the diseases.
The Lefebvre Lab advances the understanding of skeletal and neurodevelopmental syndromes. To this end, the team is decrypting mechanisms controlling the identity and activities of stem cells and differentiated cells governing these processes. A main focus is on SOX transcription factors, proteins with master roles in driving cell type-specific genetic programs, and alterations that cause skeletal, neurodevelopmental, and other diseases.