Anthropologist receives $1.84 Million to study craniofacial malformations

Penn State will receive $1.84 million over five years as a subcontract on a National Institutes of Health grant through the Icahn School of Medicine at Mount Sinai Hospital, New York, N.Y., to explore craniosynostosis, a birth defect that includes facial and cranial dysmorphology.

The grant, from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, is part of a larger grant to Mt. Sinai for $7 million over five years. Joan T. Richtsmeier, distinguished professor of anthropology, is one of three principal investigators on this multiple investigator project. She is working with Reuben Kraft, Shuman Assistant Professor of Mechanical Engineering and Patrick Drew, assistant professor of engineering science and mechanics and neurosurgery.

Craniosynostosis occurs in about 1 in 2,500 live births and typically imposes significant surgical, medical, psychosocial and financial burden on patients and their families. Richtsmeier's group has shown that craniosynostosis involves problems with the global development of the bones of the skull and other cranial tissues that result in early closing of the sutures between bone plates of the skull and face, cranial dysmorphology and increased pressure within the skull. The specific birth defect that Richtsmeier and her team will investigate is coronal nonsyndromic craniosynostosis, early closure of the coronal suture located across the top of the skull and the second most common form of craniosynostosis. This defect can be inherited but the responsible genes are not fully known.

The overall project consists of three projects that build on each other and two core components. Penn State's project will look at the relationship between skull shape and bone cell activity and use these components to build a predictive computational model of head growth in craniosynostosis. The other two projects represent a genomic approach and a systems biology approach to understanding the genetic basis and causes of this common craniofacial condition. The combined goal is to identify new genes and networks that cause for nonsyndromic craniosynostosis and to further define the mechanisms that drive dysmorphogenesis of the skull. The subprojects will interact with each other, supplying additional data to inform the computational model of head growth.

As part of the molecular and analytical core, Richtsmeier's group will receive DNA and CT scans from 12 institutes, including Penn State Hershey Medical Center, for this project.

Provided by Pennsylvania State University