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
|