Craniosynostosis Research Program
Isolated craniosynostosis (premature fusion of the skull bones) occurs in approximately 1 out of 2500 births. The sutures of the skull are the areas of expansion during normal brain growth. Premature suture fusion results in abnormalities in head shape due to restriction of growth in the region of a fused suture. These changes of head shape can be associated with increased intracranial pressure (pressure within the skull) that can result in permanent brain injury.
In addition to the risks of brain injury, craniosynostosis is often associated with alteration of craniofacial growth leading to mid-facial hypoplasia, dental malocclusion, and orbital deformation. The combination of craniosynostosis and its associated facial malformations leads to significant health problems. Patients with craniosynostosis require one or more reconstructive surgeries to correct the functional deficits associated with their malformations.
Craniosynostosis remains a significant medical and dental health issue deserving of aggressive scientific investigation. The Cunningham Laboratory and members of the Children’s Craniofacial Center use both basic science and clinical science to answer important questions about the etiology, diagnosis, treatment, and prevention of craniosynostosis.
Dr. Cunningham and his lab group use bone cell lines and animal models to study the molecular and developmental causes of human malformations. Their primary interest is a condition called craniosynostosis. Their research is focused on the molecular and developmental causes of several hereditary craniosynostosis syndromes including Apert, Crouzon, Saethre-Chotzen, and Muenke syndromes. These conditions are caused by mutations in members of the fibroblast growth factor receptor family (FGFRs) or TWIST.
In addition to these relatively rare forms of synostosis, the Cunningham lab investigates the molecular and developmental causes of isolated single suture craniosynostosis. Through the use of modern techniques of molecular biology, mutational analysis, expression analysis, and cell biology the Cunningham lab investigates the normal development of the human skull and pathogenesis of craniosynostosis as a mechanism to identify alternative treatment and prevention strategies.