Craniofacial Anomalies Team
The craniofacial anomalies team is an interdisciplinary clinical team comprised of Genetics, Plastic Surgery, Physical Therapy, Speech Pathology, Audiology, Dentistry, Psychiatry, Neurosurgery, Otolaryngology and Nursing. Our primary goal is to improve the health outcomes for patients with craniofacial abnormalities, such as cleft lip and palate. We held our first Cincinnati Children’s Craniofacial Research Symposium on January 26, 2012. This symposium brought together researchers in the Divisions of Biomedical Informatics, Developmental Biology, Human Genetics, Plastic Surgery, and clinicians in the Cincinnati Children's Craniofacial Anomalies Team.
Neonatal Skin Development
Marty Visscher, PhD, is currently studying premature infants who lack vernix caseosa, have an incompetent skin barrier and who are predisposed to infection. She studies ontogeny of stratum corneum barrier development in premature infants as a function of gestational age, over time, and compared to full term infants. To do this, Visscher uses quantitative measures of barrier integrity, hydration, pH, and collection of skin surface samples to determine lipid composition, stratum corneum structural proteins and specific cytokines. Visscher collaborates with researchers from Johns Hopkins University on a parallel study on the effect of topical massage oils on neonatal skin integrity.
Quantitative Skin Imaging and Analysis
Visscher studies multiple imaging modalities to characterize the disease/healing processes and treatment for skin conditions including hemangiomas, pressure ulcers and burn scars. Affected sites are evaluated with high resolution color imaging, thermal imaging (static, dynamic), three dimensional surface scans (3dMD Medical Imaging System), and biomechanical properties and compared with clinical assessments. We continue to investigate causes and evaluate interventions to reduce skin compromise.
Research Projects and Collaborations
Samantha Brugmann, PhD, studies the function of primary cilia in craniofacial development. Using both avian and murine model systems, her laboratory is examining how loss of ciliary proteins affects neural crest cell development. This work is supported by an R00 from the National Institute of Dental and Craniofacial Research (NIDCR) and a Trustees grant from Cincinnati Children’s.
The lab interest in cilia has also extended into a more translational direction. Working with the laboratory of Rolf Stottmann, PhD, in the Division of Human Genetics, the Brugmann lab uses next generation sequencing technology to identify genetic variants in three families with ciliopathic features here at Cincinnati Children’s. The goal of this project is to identify novel, ciliary genes responsible for human disease. This work is funded by a Pilot grant from Cincinnati Children’s.
Brugmann collaborates with Jim Wells, PhD, Division of Developmental Biology, on a project designed to engineer human intestinal organoids innervated with a neural crest-derived enteric nervous system. This work is funded by a U18 grant from the National Center for Advancing Translational Sciences.
Brugmann welcomed post-doctoral fellow Ching-Fang Chang to the lab in March 2012.
Christopher Gordon, MD, and visiting research scientist Armando Uribe-Rivera, in collaboration with Bruce Aronow, PhD, are investigating the role of microRNAs as master controllers of craniofacial development.
