CLINICAL GENETICS RESEARCH PROGRAM

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。所列机构为中心，不一定是研究者所在机构。临床遗传学研究项目（CGRP）是我科于1999年1月设立的一个新项目。CGRP的使命是提供基础设施，以收集、组织和维护关于具有各种遗传条件的个体的表型信息的大型数据库。在可能的情况下，这些信息与从受影响的个人及其家庭成员收集的DNA和其他生物样本库相关联。这些样本可供批准的研究者用于假设驱动的研究，特别是那些旨在了解基因型-表型关系的研究。 CGRP的临床和行政空间位于综合临床研究中心（GCRC）的校园内。这使得CGRP能够提供设施（例如，检查室）和对工作人员的访问进行补贴（例如，抽血师）和选定的核心实验室服务（例如，DNA提取）。CGRP雇用了3名研究协调员，他们可以提供后勤支持（例如，联系家人，安排探视等）和行政支持（例如，IRB方案的编制）。CGRP还提供工作人员和资源，进行有限数量的基本实验室检查，包括细胞遗传学研究和基因分型。接受临床项目校外支持的研究者预计会？毕业生？从该计划，并寻求独立的支持，或在可行的情况下，可以继续使用CGRP是财政支持的CGRP工作人员提供。 具体而言，CGRP的目标是：1。收集并储存在提供正常临床服务过程中遇到的新表型和家族的数据2。生成初步数据，用于为假设驱动的研究征求校外资金3。促进与其他机构的临床科学家的合作，特别是当当地研究者的工作重点是仅从几个研究受试者中收集数据时

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