Pitt Researcher to Codirect National Consortium on Facial Birth Defects

Researchers at the University of Pittsburgh and the University of Iowa will lead a $9 million, five-year initiative to study the cause of facial birth defects. The FaceBase Consortium will create an encyclopedic database of how the faces of children develop and what goes wrong to cause malformations.

FaceBase will build a list of the genes and proteins that drive embryonic cell differentiation around the forming mouth. These cells become bone, cartilage, ligament, nerve, and soft tissue, which are visible as the developing face in the first sonogram of a fetus. However, questions remain about how this development occurs.

“FaceBase will bring together data that have never before been in the same location,” said Mary Marazita, coprincipal investigator of the FaceBase Management and Coordination Hub and director of the Center for Craniofacial and Dental Genetics at the University of Pittsburgh School of Dental Medicine. “The hope is that this database will help us to piece together the information needed to intervene when facial development starts to go wrong—or prevent it from going wrong in the first place.”

Marazita and colleague, Seth Weinberg, a research assistant professor in the Pitt School of Dental Medicine, also have received one of 10 independent FaceBase research and technology grants. This $1.5 million, five-year research grant will focus on acquiring 3D facial images and a large number of genetic markers from participants in Pittsburgh, Seattle, and Houston. The resulting data will be available through FaceBase and will allow discovery of genes related to facial features.

Jeff Murray, a professor at the University of Iowa Carver College of Medicine, will serve as coprincipal investigator of the FaceBase Management and Coordination Hub.

“It’s an exciting challenge to help produce a database that brings together biochemical, molecular, genetic, and imaging findings related to human facial and skull development,” Murray said. “FaceBase will essentially create a ‘how-to’ manual of all the instructions that are needed to properly develop the mid-face, which includes the nose, upper lip, and palate, or roof of the mouth.”

Development of the FaceBase portal and database will be in collaboration with coinvestigator Michael Becich, chair of the Pitt Department of Biomedical Informatics. A prototype is expected to be ready within the next year followed by a fully functioning portal and database soon thereafter. FaceBase will be free and publicly accessible to the scientific community.

FaceBase is funded by the National Institute of Dental and Craniofacial Research, part of the National Institutes of Health.