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. Pacifici's biomedical research spans three decades and has explored mechanisms of skeletal development and growth in fetal and postnatal life. Specifically, his focus has been on identifying the cellular and molecular mechanisms that regulate the differentiation of progenitor cells and permit assembly of distinct skeletal structures, and on aberrations of these mechanisms in pediatric skeletal disorders.
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.
Dr. Nah-Cederquist investigates solutions to clinical problems in pediatric plastic surgery. Her lab is built around the strengths of CHOP's clinical practices and basic science research. This offers the unique opportunity to directly test hypotheses born from clinical problems in the laboratory, and to take new technologies and concepts developed in the laboratory to patient care.
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.
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.
Biomedical research in the Pacifici Laboratory spans three decades and has explored mechanisms of skeletal development and growth in fetal and postnatal life. Specifically, the lab’s focus has been on identifying the cellular and molecular mechanisms that regulate the differentiation of progenitor cells and permit assembly of distinct skeletal structures, and on aberrations of these mechanisms in pediatric skeletal disorders.
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.