Cellular and Molecular Biology, Physiology and Biotechnology Branch
Division of Basic and Translational Sciences
We are seeking Concept Clearance for a Request for Applications (RFA) that will enhance support for clinical genetics research on the genes and environmental factors that cause or modify susceptibility to craniofacial, oral and dental disorders and diseases. The completion of the Human Genome Project and the development of microarray and proteomic approaches provide important new tools for facilitating progress in clinical genetics studies of craniofacial disorders. In order to take advantage of these new approaches, there are several obstacles that must be overcome to accelerate the rate of research progress in craniofacial disorders.
A major hindrance to progress in clinical genetics research has been the variation that currently exists between individuals with the same craniofacial disorder and the lack of consensus in the clinical community regarding phenotypic definitions. The primary goal of this initiative is to develop well-characterized patient populations with specific craniofacial disorders by fostering unique partnerships between clinicians and basic scientists to develop rigorous diagnostic criteria. Support is needed for collaborative studies to refine clinical phenotypic characterization and to develop standardized and comprehensive phenotypic definitions that include detailed craniofacial morphometric analyses that extend to sub-phenotypes and associated anomalies beyond the head and neck. In addition, the natural history and prognosis of patients with many craniofacial disorders are not well understood. Long-term studies defining the natural history of craniofacial disorders are needed as well as studies identifying diagnostic biomarkers.
This initiative will support clinical research efforts to accrue patient populations with craniofacial disorders for accurate and comprehensive clinical, genetic, molecular, and biochemical assessment. Such efforts are essential in order to make genetic analyses feasible for many craniofacial disorders that are currently gap areas.