Identification of Rare Variants for Orofacial Clefts Using Publicly Available Datasets
Full Description
PROJECT SUMMARY
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.
Grant Number: 1R03DE035068-01
NIH Institute/Center: NIH
Principal Investigator: Azeez Butali
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