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.
Bone disorders exact a considerable toll on human health in both children and adults. Dr. Long seeks to understand the fundamental mechanisms underlying both normal skeletal development and the pathophysiology of bone diseases. His current research includes studies of skeletal stem cells and progenitors, metabolic regulation of bone cells, and the integration of bone and whole-body metabolism.
Dr. Mostoufi-Moab's clinical and research program is focused on endocrine late effects after childhood cancer therapy. She has unique dual training in pediatric endocrinology and oncology with a master's degree in clinical epidemiology. The goal of her research program is to pursue a mechanistic understanding of metabolic and endocrine disorders that occur due to cancer therapy.
Scientists at Children’s Hospital of Philadelphia (CHOP) report that a drug candidate that blocks abnormal protein signals may lead to the first pharmacologic treatment for hereditary multiple exostoses (HME), a rare pediatric genetic disease.
Some summers are unforgettable. While her days were not always sunny during the summer of 2005, it is a time that remains close to Raine Talley’s heart as a cancer survivor. Toward the end of second grade, it seemed like Talley could not get rid of a terrible cold, but the illness dragging her down turned out to be acute lymphoblastic leukemia (ALL), a cancer of the bone marrow and blood.
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.
Identifying and characterizing the cellular and molecular mechanisms regulating skeletal development, growth, and morphogenesis and developing new cell- or gene-based tools to treat and correct pediatric skeletal disorders.
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.