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Health, Science & Tech

Pitt Snags $11.8 Million To Study Cleft Lips And Palates

The National Institutes of Health has awarded $11.8 million over five years to the University of Pittsburgh to study the hereditary roots of cleft lips and palates.

Orofacial clefts are small gaps in the lip or palate that form in a baby’s mouth when the child doesn’t develop properly in the womb. These occur in one of every 700 births around the world, according to Mary Marazita, a Pitt professor and director of the Center for Craniofacial and Dental Genetics.

Marazita and her team will use the grant to study the genetic differences and similarities in more than 6,000 individuals from more than 1,500 families with a history of cleft lip or cleft palate from Columbia, Nigeria, the Philippines and Pennsylvania, as well as 2,000 people with no history of the birth defects.

The sampling locations might seem random, but according to Marazita, the center needed to widen its search to better understand the different cleft-causing genes that exist in dissimilar ethnic groups.

She said those of Asian or Native American descents have the highest rate for the birth defect, while Caucasians are known to have an intermediate risk. Those of African descent have the lowest risk.

“We’re also looking at the relatives in the families because we believe that there are features we can measure that reflect carrying the gene even if you don’t actually have the birth defect,” Marazita said.

Researchers will take ultrasound scans of participants’ mouths, lip patterns and facial surfaces and compare them to their relative cleft patient to determine if their family members exhibit minor defects in their mouth muscles or facial structures.

“We’re getting 3-dimensional images of their faces,” Marazita said, “and from those digital images, we’re able to get very detailed measurements of the components of the face and we’ve identified certain measurements that are different in unaffected relatives of people with the birth defects.”

Identifying the cleft-carrying genes in different ethnic groups could lead to more enhanced, personalized cleft lip and palate treatment, according to Marazita.

“It’s a very common approach to look at the breakdowns in the developmental process to better understand even normal developments of the face,” she said.