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. The Clinical Genetics Research Program (CGRP) is a novel program established in the Department of Pediatrics in January of 1999. The mission of the CGRP is to provide infrastructure to collect, organize, and maintain a large database of phenotypic information about individuals with various genetic conditions. When possible, this information is linked to a bank of DNA and other biological samples collected from affected individuals and their family members. These samples are made available to approved investigators for use in hypothesis-driven research, particularly those studies aimed at understanding genotype-phenotype relationships. The clinical and administrative space of the CGRP is located on the campus of the General Clinical Research Center (GCRC). This enables the CGRP to provide facilities (e.g., exam rooms) and to subsidize access to staff (e.g., phlebotomists) and selected core laboratory services (e.g., DNA extraction). The CGRP employs 3 studies coordinators who are available to provide logistical support (e.g., contacting families, scheduling visits, etc.) and administrative support (e.g., preparation of IRB protocols). The CGRP also makes available staff and resources to perform a limited number of basic laboratory tests including cytogenetic studies and genotyping. Investigators who receive extramural support for a clinical project are expected to either ?graduate? from the program and seek independent support or, if feasible, may continue to use the CGRP is financial support for the CGRP staff is provided. Specifically, the aims of the CGRP are to: 1. Collect and bank data on novel phenotypes and families encountered during the course of providing normal clinical services 2. Generate preliminary data that will be used to solicit extramural funds for hypothesis-driven research 3. Foster collaborations with clinical scientists at other institutions, particularly when the efforts of the local investigator are focused on collecting data from only several study subjects