CENTER FOR CRANIOFACIAL DEVELOPMENT AND DISORDERS

  • Richtsmeier, Joan Therese (PI)
  • Mooney, Mark (PI)
  • Gridley, Thomas (PI)
  • Slifer, Keith J. (PI)
  • Davisson, Muriel (PI)
  • Roman, Laura (PI)
  • Semenza, Gregg (PI)
  • vander Kolk, Craig (PI)
  • Scott, Alan (PI)
  • Beaty, Terri (PI)
  • Jabs, Ethylin Wang (PI)

Project: Research project

Description

The goal of the Center for Craniofacial Development and Disorders is to increase our understanding of normal and abnormal craniofacial development, promote prevention of craniofacial disease, and improve diagnosis and treatment of craniofacial disorders, including oral and dental conditions. Craniofacial abnormalities compose a large and heterogeneous group of human malformations. Of the over 5000 known human genetic syndromes, over 700 have craniofacial abnormalities. Oral clefting and craniosynostosis are among the most common malformations in humans and present a major health issue because of their associated medical, surgical, and psychological implications. To advance our knowledge, the Center will study the normal process of craniofacial development and the pathogenesis of craniosynostosis, oral clefting, and other craniofacial disorders in zebrafish, mice, rabbits, and humans from the phenotypic to the molecular level using a multi-disciplinary interactive approach. The Center will include the Administrative, Clinical, Animal, Molecular/Technology, Biostatistical, and Education/Informatics Cores which will support eight projects encompassing: 1) basic science, 2) clinical research, 3) behavioral and social sciences and health services, 4) environmental sciences, 5) technology development and liaison with industry, 6) demonstration and outreach programs, and 7) education and training for scientists, health care professionals, patients, and the public. Projects I and II will use zebrafish as a model organisms to study retinoic and ethanol effects of the morphogenesis of cranial neural crest cells, and mouse as a model organism to study the molecular pathogenesis of ethanol-induced craniofacial malformations and cell death. Projects III, IV, V, and VI will study morphologic aspects of the facial tissues, skull, and brain, developmental processes, molecular biology, genetics, and treatment of craniosynostosis in rabbits, mice, and humans. Projects VII and VIII will identify susceptibility genes for oral clefting and will analyze behavioral aspects and quantify of life for patients with non-syndromic oral clefting and craniosynostosis. The Center will be based at Johns Hopkins University with collaborative ties both nationally and internationally, with participants in 14 states and seven other countries.
StatusFinished
Effective start/end date8/1/997/31/05

Funding

  • National Institutes of Health
  • National Institutes of Health
  • National Institutes of Health
  • National Institutes of Health
  • National Institutes of Health

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Craniosynostoses
Mutation
Phenotype
Reconstructive Surgical Procedures
Craniofacial Dysostosis
Synostosis
Three-Dimensional Imaging
Intracranial Pressure
Genetic Association Studies
Sutures
Genes
Public Health
Head
Demography
Skin