Identification of Rare Variants for Orofacial Clefts Using Publicly Available Datasets

Orofacial clefts (OFCs) are the most common birth defects affecting the head and neck. Families with OFCs face significant financial, educational, medical, psychological, and cultural challenges, including instances of infanticide due to stigmatization and a lack of sociocultural support. This proposal focuses on two key aims: (1) identifying craniofacial genes with rare non-synonymous deleterious variants, and (2) identifying craniofacial enhancers with rare deleterious variants. By identifying rare deleterious variants in craniofacial genes and enhancers, these aims will advance our understanding of the genetic and molecular mechanisms underlying oral clefts (OFCs), significantly contributing to the improvement of treatment, prevention, and overall quality of life for affected individuals and families. Project Number: 1R03DE035068-01 | Fiscal Year: 2025 | NIH Institute/Center: National Institute of Dental and Craniofacial Research (NIDCR) | Principal Investigator: Azeez Butali | Institution: UNIVERSITY OF IOWA, IOWA CITY, IA | Award Amount: $295,856 | Activity Code: R03 | Study Section: National Institute of Dental and Craniofacial Research Special Grants Review Committee[DSR] View on NIH RePORTER: https://reporter.nih.gov/project-details/11201849