Dr. Azeez Butali has received a new research grant from the National Institute of Dental and Craniofacial Research (NIDCR) to study rare genetic variants in African populations that may play a key role in orofacial clefts. These common birth defects, which affect the lip and palate, can result in significant health, emotional, and financial challenges for children and families around the world.

Although many common genetic factors have already been identified, they account for only a small portion of overall risk. Dr. Butali’s project focuses on uncovering rare genetic changes that may help explain why orofacial clefts develop, particularly among populations that have historically been underrepresented in genetic research.

Using whole genome sequencing data from 625 individuals with orofacial clefts from Africa and whole genome dataset from 7215 African Americans in the All of Us (AoU) database, Dr. Butali and his team will investigate two major areas. First, they will look for the burden of rare, harmful changes in genes that are involved in craniofacial development. Second, they will study the burden of rare harmful changes in non-coding regions of the genome, especially enhancer regions that help control when and where these genes are turned on during early development. Identifying genes and enhancers with a higher burden of rare variants could help fill important gaps in understanding how clefts form and why they occur in some individuals and not others.

The long-term goal of this research is to improve outcomes for individuals affected by clefts. The knowledge gained could help inform future genetic screening tools, improve early diagnosis, and guide the development of targeted therapies or preventive interventions. For communities where access to care is limited or stigma remains high, such advances can have far-reaching implications for both health and quality of life.

“Our work is not just about science towards prevention,” said Dr. Butali. “It is also about giving children born with clefts and their families a better chance at health and dignity, no matter where they live.”

Dr. Butali is the Gilbert E. Lilly Professor of Diagnostic Sciences at the University of Iowa and the world’s foremost expert in the genetics of orofacial clefts among African populations. 

Research reported on this website is being supported by the NIDCR/NIH under Award Number R03 DE035068-01. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.