The National Institutes of Health has awarded $11.8 million over five years to the University of Pittsburgh Center for Craniofacial and Dental Genetics
(CCDG) 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, Ph.D., a University of Pittsburgh Professor and Director of the CCDG.
Dr. 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 Dr. Marazita, CCDG widened 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.
Researchers will take ultrasound scans of participants’ mouths, lip patterns and facial surfaces and compare them to their relatives who are cleft patients 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,” says Dr. Marazita, “and from those digital images, we’re able to get very detailed measurements of the components of the face. 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 Dr. Marazita.