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Building a Genetic and Genomic Knowledge Base in Dental and Craniofacial Conditions and Diseases

Translational Genomics Research Branch
Division of Extramural Research

To encourage research in dental and craniofacial conditions and diseases that will identify promising areas of the genome and/or characterize and elucidate the function of genetic variants that affect disease risk in humans, with the goal of driving development of effective diagnostic, therapeutic, and preventive approaches.

Progress is being made in understanding genes involved in oral clefts in humans. While many other dental and craniofacial conditions cluster in families and show evidence of a genetic predisposition, little is known about specific genetic risk factors or the interaction between genetic and non-genetic risk factors for many common and rarer dental and craniofacial conditions and diseases. Understanding genetic risk factors may provide targets for developing effective treatment, diagnostic, and prevention approaches, or improved prediction models, and help realize the potential of personalized medicine. 

Genome-wide association studies have yielded significant insights into the genetic contribution to many common diseases, but this approach has not been widely adopted to study dental and craniofacial conditions or diseases such as oral cancer, periodontal disease, Sjögren’s syndrome, or temporomandibular joint disorder. Genome-wide association studies identify areas of the genome that are likely to contain genes that affect disease risk. After the initial genome-wide association study, confirmatory studies and further follow-up studies are needed to identify and characterize relevant genes and genetic variants. Thus the additional studies play a critical role in gaining insights from genome-wide association studies; examples include replication, fine-mapping, sequencing, and functional studies. 

Genome-wide association studies are less useful for rarer conditions, such as the ectodermal dysplasias, because current SNP genotyping arrays are designed to capture common variation and the variants involved in rarer conditions are not likely to be common. Through family studies, investigators have discovered genes for rare conditions, and genes/rare variants related to more common conditions. In addition, candidate gene studies can play an important role in understanding the role of identified genes/genetic variants, and interactions among genes and environmental factors. 




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This page last updated: February 26, 2014