About Skeletal Health and Diseases RAG



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The human skeleton is integral to whole-body physiology with a multitude of functions beyond mechanical support and locomotion including support of hematopoiesis, endocrine regulation of mineral metabolism and, potentially, other physiological processes. Formation of the skeleton begins in the embryo, but skeletal development and maturation continue after birth and last into the second decade of postnatal life in humans.

Skeletal diseases in children and adolescents occur in myriad forms, including congenital skeletal dysplasia, rare genetic diseases, bone tumors, and disruption of mineral or energy metabolism that increases bone fracture risks. At the cellular level, the large spectrum of skeletal diseases invariably involves disruption of the normal formation and/or function of cartilage and bone cells.

Skeletal research at Children's Hospital of Philadelphia varies widely from fundamental or translational studies in cell and animal models to therapeutic or surgical treatments of pediatric skeletal diseases in patients. The technical expertise is equally diverse, ranging from state-of-the-art tissue imaging to single cell omics.