The focus of our research is to understand how genetic and environmental factors interact to cause birth defects. We are particularly interested in craniofacial malformations like cleft lip and palate and holoprosencephaly because of their prevalence and serious consequences for affected individuals and their families. Effective prevention strategies for these birth defects are not yet available because our understanding of how they are caused is inadequate. We use in vitro and in vivo animal model systems that recapitulate normal and abnormal development to identify genetic and environmental factors and to understand how they interact and contribute to causing these birth defects.
Our mission is to solve the gene-environment puzzle to prevent birth defects. Birth defects affect 3% of newborns and cause tremendous individual, familial, and societal burden. For most birth defects, development of targeted prevention strategies has been stymied by biological and etiological complexity. In fact, an estimated 75% are caused by the interaction of multiple, yet-to-be-identified predisposing genetic mutations and environmental influences. The goal of our research is to develop prevention strategies by identifying genetic and environmental factors that interact to cause birth defects. The focus of our research approach is clefts of the lip and palate and holoprosencephaly, birth defects that exemplify the difficulty and importance of solving the gene-environment puzzle.
Cleft lip and palate: Every year, approximately 7,000 children are born with orofacial clefts in the United States. Around the world, the number is greater than 200,000. When comprehensive care is available, children are evaluated and treated by a team of care providers with clinical specialties including plastic, reconstructive, and dental surgery, speech and language pathology, audiology, otolaryngology, and feeding and occupational therapy. In many regions of the world, where primary and specialty care is scarce, the consequences of these defects can be even more profound.
More information on cleft lip and palate can be found here:
American cleft palate and craniofacial association: http://acpa-cpf.org/
Holoprosencephaly: HPE is a birth defect involving the forebrain and face. HPE is thought to be one of the most common developmental abnormalities in human conceptuses. HPE in surviving individuals is associated with intellectual disability and learning, behavior, and motor impairment. Like OFCs, HPE is etiologically complex and most cases are thought to result from an interaction of predisposing genetic mutations and environmental influences.
More information on holoprosencephaly can be found here:
National Human Genome Research Institute: https://www.genome.gov/12512735