Translational Research Program in Pediatric Orthopaedics

Researchers in the Translational Research Program in Pediatric Orthopaedics at Children's Hospital of Philadelphia investigate the mechanisms that control skeletal development and growth, morphogenesis, and homeostasis in fetal and postnatal life. Their focus is on how skeletal elements and joints acquire their distinct organization and structure; how the skeletal tissues maintain their function and homeostasis over age; how bones and joints interact with muscles, tendons, and ligaments to sustain normal skeletal mobility; and how all these mechanisms and processes are regulated at the cellular, biochemical, and molecular levels.

Data and insights gained from fundamental studies help us to envision what may be the pathogenic mechanisms of pediatric and adolescent musculoskeletal diseases, including growth deficiencies, synovial joint defects, metabolic bone diseases, Hajdu Cheney syndrome, Hereditary Multiple Exostoses, Lamb-Shaffer syndrome, and Fibrodysplasia Ossificans Progressiva. Researchers explore those predictions by working with animal models of disease.

Some additional research topics in the program are temporomandibular joint roles of SOX8 and SOX9 (SOXE proteins), chondrodysplasias, dwarfism, osteoarthritis, roles of SOX4 and SOX11 (SOXC proteins), skeletal dysplasias, cleft palate, congenital skeletal conditions, translational medicine therapies, and heterotopic ossification.

The ultimate goal is to create novel and effective biologic treatment strategies — that could be used solely or in combination with surgical interventions — to provide effective, safe, and long-lasting treatments and possibly a cure for those diseases.

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