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About Us: Overview

Craniofacial abnormalities comprise a large and heterogeneous group of disorders. Of the approximately 5,000 known human inherited conditions, over 700 have craniofacial abnormalities. Two major categories of common craniofacial disorders are oral clefting and craniosynostosis (the premature fusion of skull bones). These conditions represent a major health issue because they can require significant medical and surgical treatment. Affected individuals may have psychological and social problems because society, unfortunately, places high value on appearance.

The Center for Craniofacial Development and Disorders was established at The Johns Hopkins University to provide a comprehensive program in craniofacial research, education, and clinical care. The Center is multidisciplinary and multi-institutional with collaborative ties to universities, research institutions, hospitals, and patient support groups in fourteen states and seven countries.

The Center is currently conducting studies to understand the normal process of craniofacial development and the pathogenesis of genetic and teratogen-induced facial malformations, craniosynostosis, and oral clefting in humans, as well as in the model organisms zebrafish, mice, and rabbits. Researchers and clinicians of the Center are making scientific and technologic advances in craniofacial biology and medical treatment by utilizing computer visualization, informatics, biostatistical analysis, developmental biology, and molecular genetics. Through coordinated efforts among Center experts the mechanisms underlying craniofacial development are being revealed from the basic level of the genes to the morphologic and behavioral levels of facial appearance and psychosocial well being.

The Center has had many successes in isolating genes responsible for craniosynostosis, creating and characterizing animal models for oral clefting and abnormal skull development, demonstrating the association of maternal smoking and certain genes with an increased risk for oral clefting and craniosynostosis in newborns, and developing molecular diagnostic tests for craniosynostosis. This research has led to demonstration and outreach programs and to technology development that has fostered liaisons with industry. The Center has been instrumental in providing excellence in educating and training scientists, health care professionals, students, and the public, while providing the knowledge and tools needed for improved patient care.

Authors: Director, Center for Craniofacial Development and Disorders: Ethylin Wang Jabs, M.D.

Last Updated: 3/3/06

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