Timothy Cox, Ph.D. is Professor and Laurel Endowed Chair in Pediatric Craniofacial Research in the University of Washington's Department of Pediatrics (Division of Craniofacial Medicine) and the Center for Developmental Biology and Regenerative Medicine at Seattle Children's Research Institute. His research employs animal models to understand the genetic and epigenetic contributions to craniofacial development and dysmorphology.
Perspectives and challenges in advancing research into craniofacial anomalies
Article first published online: 18 OCT 2013
© 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Craniofacial Anomalies: Models, Mechanisms, and Management
Volume 163, Issue 4, pages 213–217, November 2013
How to Cite
2013. Perspectives and challenges in advancing research into craniofacial anomalies. Am J Med Genet Part C Semin Med Genet 163C:213–217., , .
- Issue published online: 24 OCT 2013
- Article first published online: 18 OCT 2013
Development of the craniofacial region is a remarkably complex and tightly orchestrated process. It is therefore not surprising that genetic and environmental insults frequently result in craniofacial anomalies. Nonetheless, our knowledge of their etiology and pathogenesis is still scarce, limiting our efforts at prevention. Furthermore, few standardized protocols have been developed to guide clinical and surgical interventions. In this Issue of the Seminars, reviews on the most recent research advances on craniofacial conditions, from genomics and epigenetics to ontology and medical care are discussed with emphasis on the most common anomalies of the craniofacial region: orofacial clefts, craniosynostosis, craniofacial microsomia, facial dysostosis, Robin sequence, jaw and dentition anomalies, and anterior neural tube defects. Phenotypic variability and the importance of detailed characterization using standardized terminology to better distinguish between phenotypes, new technologies (and their limitations) for genetic diagnosis, and the use of mouse models to study these conditions in both their complex phenotypic and genetic aspects are highlighted. © 2013 Wiley Periodicals, Inc.