CLINICAL GENETICS RESEARCH PROGRAM

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Enhanced knowledge of the phenotypes associated with a variety of congenital anomalies and other genetic conditions, and the development of a resource for the study of phenotype:genotype correlations. Specific goals are 1) careful documentation of phenotypes associated with various congenital and genetic conditions, 2) creation and maintenance of a database of phenotypic information, and 3) collection, processing and storage of DNA samples and other biological matericals linked to phenotypic information, for utilization in studies of phenotype:genotype correlations. The study procedures for phenotypic evaluation consist of gathering of medical records, physical examination, anthropometric measurements, ultrasound evaluations, radiological examinations, karyotyping, and other standard clinical tests that pose minimal risk to individuals. DNA samples will be obtained from peripheral blood and/or buccal swabs, hair follicles, or skin fibroblasts. Stored biological material consists of extracted DNA, "immortal" transformed lymphocytes, and, on occasion, other material, such as skin fibroblasts.