Seth Weinberg, assistant professor at the University of Pittsburgh School of Dental Medicine, looks at a three-dimensional image of his head. He is involved in genetic research into clefting.
PITTSBURGH | Cleft lips and palates in newborns can frighten parents at first, while at the same time the cause of such dramatic impacts on function and appearance has long mystified doctors and scientists.
Those factors led Mary Marazita, who holds a doctoral degree in genetics, to begin researching the genetic causes of clefts in the 1980s.
Since then her research team has widened its focus to include many physical and health impacts that blood relatives of people with clefts can experience from shared gene variants.
While the cleft lip is the most obvious consequence of those variants, Marazita and her team at the Center for Craniofacial and Dental Genetics at the University of Pittsburgh School of Dental Medicine have been working to understand the genetic causes of the more hidden physical and health impacts.
Such abnormalities can include alterations and weaknesses in facial structure and tissue, with a higher risk of developing problems such as poor wound healing and even ovarian, breast and prostate cancers, among others.
A 2011 study she led and published in Nature described it this way:
Studies into the cause of clefts "may well enhance our understanding of other common, complex traits and allow us to move beyond the attitude that cleft lip and palate are only a structural birth defect," the study stated. "Instead, it is a lifelong disorder for which therapies and prevention can promise a fuller and healthier lifespan."
The U.S. Centers for Disease Control and Prevention reports that clefts affect 1 in every 940 live births, about two-thirds of whom are boys, with 8,000 American children born each year with the defect.
The condition occurs in utero when the upper lip and jaw and palate tissue from both sides of the face fail to come together fully during the first trimester, said Weinberg, a research assistant professor at the center.