$2.3 million NIH grant supports research on midface and diseases

UNIVERSITY PARK, Pa. -- A team of researchers headed by Penn State anthropologist Joan Richtsmeier will use genetically engineered mice and 3D imaging technology to study the development of the human midface – upper jaw, cheekbones, and eye sockets – and how diseases and abnormalities of the head affect the growth and shape of the face. The work is being funded by a new $2.3 million five-year grant from the National Institute of Dental and Craniofacial Research, which is part of the prestigious National Institutes of Health.

The researchers will measure facial tissues and spaces, using specialized 3D images to learn more about these defects in human patients, and will use genetically engineered mouse models to guide investigations of these human diseases. Also leading the team is Ethylin Wang Jabs of Mount Sinai Medical Institutions, New York City.

“These combined approaches will lead to the discovery of the underlying molecular, cellular and developmental basis of these disorders, which include the craniosynostosis syndromes, like Apert and Crouzon syndromes,” said Richtsmeier, professor of anthropology in the College of the Liberal Arts at Penn State. “We hope our work will eventually lead to the improvement of care for patients with these conditions.“

Craniosynostosis is a condition where the fibrous tissues uniting the bones of the skull close too early, causing problems with normal brain and skull growth. Premature closure of these tissues surrounding the brain is often associated with changes in facial bones, commonly called midface hypoplasia. Many diseases of the head share the common feature of midface hypoplasia, a medical condition in which the person’s upper jaw, cheekbones and eye sockets are smaller than normal.

Craniosynostosis syndromes are caused by genetic mutations and  Richtsmeier's team aims to broaden the understanding of the role of these genes in development by studying how these mutations affect growth of the face.

For a decade, Richtsmeier has been teaching and conducting cutting-edge research in genetics and development biology, specifically the genetic bases of craniosynostosis syndromes and Down syndrome and other craniofacial abnormalities. She has published important findings contributing to our understanding of the evolution and development of the shape of the brain and the part of the skull that encloses it. This new grant will enable her to expand her research to study prenatal development of organs, spaces and skeletal elements of the face.

Her laboratory teams include undergraduate students, graduate students and post-doctoral fellows from the College of the Liberal Arts and across the University. One example is John M. Starbuck, a recent doctoral graduate in anthropology. Starbuck conducted research on 3D facial images to understand how the faces of individuals with Down syndrome differ from their siblings and from typically developing sibling pairs. His dissertation research was an offshoot of a collaborative project between Richtsmeier and Roger Reeves, funded by the NIH to Reeves, at Johns Hopkins University School of Medicine in Baltimore. With additional support from alumni and the National Science Foundation, Starbuck was able to recruit nearly 800 individuals from Pennsylvanian families and other states into his dissertation study, which used morphometric techniques to determine developmental factors that contribute to the facial characteristics of people with Down syndrome.

The goal of Starbuck’s published findings is to lay a foundation for future studies seeking to alleviate health problems associated with facial characteristics, such as sleep apnea or respiratory problems, by understanding the genetic and developmental bases of craniofacial variation. Starbuck now holds a post-doctoral research position in the Department of Orthodontics and Oral Facial Genetics at the Indiana University School of Dentistry in Indianapolis, Ind., where he continues to use advanced techniques that he learned in graduate school to investigate variation in facial morphology.

Last Updated November 15, 2012