Juhee Jeong, PhD, assistant professor of basic science and craniofacial biology at NYU College of Dentistry, has received funding from the National Institutes of Health's National Institute of Dental and Craniofacial Research (NIDCR) to study birth defects affecting the skull. The five-year, $1.9 million grant (5R01DE026798-02) runs from April 2017 through January 2022.
Abnormalities in the calvaria, or upper part of the skull, are a major class of birth defects in humans. The calvaria comprise plates of bone and fibrous joints, and the balance between the two components is crucial. Craniosynostosis, a premature fusion of bones in the skull, occurs in one of every 2,000 births and leads to a dysmorphic skull that can affect brain and orofacial development. Current treatment of craniosynostosis often involves invasive and risky surgeries at young ages.
The goal of Dr. Jeong's research is to obtain a comprehensive understanding of the molecular genetic regulation of calvarial development, which she hopes will lead to innovative strategies to treat and prevent related birth defects. The researchers will focus on LMX1B, a human birth defect gene that the researchers hypothesize is a key factor that inhibits the formation of bone.
"The outcome of our research will provide crucial insights into the regulation of early stages of calvarial development and identify novel mechanisms and players that can contribute to the pathogenesis of craniosynostosis," Dr. Jeong said. "The knowledge gained from this project can help devise new methods for diagnosis, treatment, and prevention of the birth defects affecting the calvaria."