From biological mechanisms to interventional and corrective therapies for common craniofacial malformations
Associate Professor, Laurel Endowed Chair in Pediatric Craniofacial Research
Pediatrics, University of Washington
January 15, 2015
Foege N130A, Wallace H. Coulter Seminar Room
Every year, three times more children are born with craniofacial malformations, such as cleft lip/palate and craniofacial microsomia, than all diagnosed childhood cancers combined. These conditions have a devastating impact from the moment the child is born, and the stigma associated with facial deformity lasts a lifetime. Most craniofacial conditions typically require multiple expensive corrective surgeries and involvement of a multidisciplinary clinical team for long-term management. While the surgical repair itself is impressive, the outcomes are still highly variable, likely because of our limited knowledge of the underlying embryonic mechanisms causing the conditions and a crude understanding of the timing of changes in, and factors affecting, postnatal cranioskeletal growth. My lab employs molecular genetic and developmental biology approaches and a combination of model organisms (chick, mouse and human), quantitative multidimensional imaging and cell-based assays to better understand the contribution of genetic and environmental / nutritional factors to embryonic and postnatal craniofacial development. Knowledge of an individual’s genetic risk and the epigenetic factors impacting presentation of the malformation should not only facilitate development of more effective treatment options but also the exciting possibility of low-cost interventional or preventative therapies accessible to the global community.
Dr. Timothy Cox is currently an Associate Professor in the Department of Pediatrics, and the Laurel Endowed Chair in Pediatric Craniofacial Research at the University of Washington. He received his Ph.D. in Molecular Genetics from the University of Adelaide, South Australia in 1993 and completed post-doctoral training at Baylor College of Medicine, as well as the University of Queensland, and the University of Adelaide. The focus of his lab’s research is on understanding the molecular, cellular, and developmental mechanisms underlying common craniofacial malformations, including cleft lip, craniofacial microsomia, and midface hypoplasia. Over the past 7 years Dr. Cox has also invested considerable effort in developing 3D quantitative phenotyping for his craniofacial studies, using micro-computed tomography (for the craniofacial skeleton) and optical projection tomography (for soft tissue morphology). He currently directs the Small ANimal Tomographic Analysis (SANTA) Facility that serves the 3D imaging needs of the Seattle and broader national research communities. Dr. Cox works closely with dentists, surgeons and pediatricians in different Craniofacial Centers and has taught and collaborated with faculty from various departments in the Schools of Medicine (Pediatrics and Pathology) and Dentistry (Oral Health Science, Orthodontics and Endodontics) as well as from the College of Engineering (Computer Science & Engineering and Mechanical Engineering).