Cellular and Molecular Biology, Physiology and Biotechnology Branch
Division of Basic and Translational Sciences
We are seeking Concept Clearance for a Request for Proposals (RFP). It is envisioned that the registries and repository will stimulate and facilitate research efforts on oral and craniofacial genetic disorders by providing high quality material from well-characterized patient populations, thus encouraging research projects using human cells by investigators who would not otherwise have access to these materials. The main aims of this initiative are:
- to establish one or more research registries for families with oral and craniofacial genetic disorders in the United States and abroad;
- to establish uniformly accepted clinical diagnostic criteria for oral and craniofacial genetic disorders that provide a detailed characterization of the phenotype including variations;
- to establish a repository that will collect both genomic samples (i.e., DNA, RNA ) and affected tissue samples from patients with oral and craniofacial genetic disorders. Such a repository will help to establish and characterize cell lines, and to distribute DNA and cell lines derived from these samples to researchers in the U.S. and abroad.
The registries and repository are expected to serve as a national and international resource by: 1) establishing standardized diagnostic criteria and phenotypic characterization of genetic craniofacial disorders, including detailed information on individual variation; 2) standardizing protocols for the collection and storage of tissue samples, and for the establishment and characterization of cell lines; 3) managing patient and tissue data records in a comprehensive computerized database that will facilitate data sharing and collaboration at an international level; 4) providing information on the prevalence of the disorder in the general population and in population subgroups including males, females, racial and ethnic groups; 5) facilitating genetic studies by providing access to a resource of individuals with a consistent phenotype and making available high quality cell lines and DNA samples; 6) developing a web-based catalog that lists available cell lines and DNA samples including clinical data such as phenotypic characterization, pedigree diagrams, and cell lines and DNA available from family members; 7) publicizing this collection through articles in scientific journals and presentations at scientific meetings; and 8) providing links to related databases.
The registries and repository will serve as important resources for encouraging and facilitating national and/or international collaborative research projects including basic studies, gene discovery, epidemiology, and clinical trials for genetic disorders affecting craniofacial, oral and dental tissues. These registries and cell repository will be coordinated with efforts by other Federal agencies so as to extend existing coverage of oral and craniofacial genetic disorders while minimizing overlap.