UI researchers investigate genetic causes and solutions for patients with cleft palate and lip

Two researchers from the University of Iowa are studying the genetic causes of cleft lip and palate among different populations, including African populations and twins.


Researchers at the University of Iowa are studying the genetics of cleft lip and palate to alleviate the financial and mental stressors of the disease in patients and their families.

Clefts develop early in pregnancy and often require multiple surgeries to repair, with medical costs of at least $5,000.

Azeez Butali, an associate professor of user interface in the College of Dentistry, studies people with clefts in African populations. He said research among this population has been essentially non-existent in recent decades.

Butali immigrated to the United States from Nigeria and said most of the studies he had seen in cleft research focused primarily on Asian and European children. He said the African genome allows researchers to learn a lot about the genetic factors that contribute to cleft.

“Believe it or not, I’m the main slot researcher for Africa,” Butali said. “Most of the genetic research, a significant number, over 95% of the publications from the continent come from my laboratory. We pushed and brought data and value to the table. »

He said his research focuses first on understanding the genetic causes of clefts, which is made more complicated by syndromic or non-syndromic cases of cleft palate and lip.

“The syndromic could be Mendelian, just a gene or two,” Butali said. “For non-syndromics, it’s polygenic, that is to say there are several genes [affected]. If you say you want to look at a single gene to prevent cleft, that might be a challenge. »

Butali said the goal of his research is ultimately cleft prevention, but that can take some time. He was reluctant to provide a specific date, but said an increase in research has provided the field with valuable developments.

“We are better than where we were so many decades ago,” Butali said. “What we know now over the past 10 years is even more than what we [learned] over the past 30 years. This tells you that we are getting closer to prevention because we have the tools to interrogate the genome.

Another aspect with little research in the area, Butali said, is how easing the financial and physical burden of clefts can help the mental health of patients’ mothers.

“Mothers of children with clefts have been shown to have mental health issues like anxiety and depression,” he said. “No one else has really looked into it, but we know there are mental health issues.”

Butali said he decided to research clefts in general because, after training as a dentist in Nigeria, the first patient he prepared for surgery was a child with a cleft. Once at graduate school in Scotland, Butali saw a request for research on clefts.

“For me, it’s a personal story that turned out to be a journey of a lifetime,” Butali said. “Before I started this, only about 100 cases were being treated in [Nigeria]. Today, in collaboration with the non-profit organization SmileTrain, over 100,000 people have been treated in Africa and over 20,000 in Nigeria.

Aline Petrin, an assistant professor at Carver College of Medicine, has worked with clefts for 18 years. His research focuses on twins with clefts and attempts to combine genetics and epigenetics to uncover what factors influence cleft epidemiology.

“By understanding [the genetics], we have a better chance of ultimately helping, ideally, to prevent cleft,” Petrin said. “We can also use this information to improve the results of the treatment that these patients have to follow. These cleft patients, they undergo many types of surgeries and treatments throughout their lives.

Petrin said she had always been fascinated by genetics and worked at a hospital in Brazil, which is the largest facility in South America that treats patients with facial differences. She said that approximately one in 700 people will have a cleft and it is very important and relevant to help this population.

“It’s something that impacts the lives of many people,” Petrin said. “We want to find out more and more so we can help these patients.”

The different lines of genetic research around clefts, she said, can be brought together to help parents and patients in different ways.

“By combining data from different research areas, we gain more insight into how [a] slot is growing,” Petrin said. “This will allow us to give [parents] a better prediction of the risk of their child having a cleft or not.

Christine E. Phillips