Clinical Research Support Core

项目摘要 在未诊断疾病网络（UDN）中建立的临床和生物医学研究文化， 未诊断疾病计划（UDP）导致了机构内部和机构之间的合作， 诊断成功和生物学理解。为了让更广泛的人参与这一进程， 患者数量，在UDN和UDP中开发的个性化转化研究过程必须 缩放。数据管理协调的临床研究支持核心的总体目标 卓越诊断中心（DCoE）的DMCC中心正在扩展这一模式。这将是 通过实施预测诊断可能性的计算模型， 与国家和国际配对网络，并扩大成员的未确诊和 罕见疾病生态系统包括以前代表不足和无人代表的实体。为了实现这一目标， 临床研究支持核心将专注于以下三个具体目标：1）建立和管理案例 审查委员会会议并加快申请人评估，2）通过以下方式加快诊断成功 在其他匹配方面，扩大DCoE和UDP调查人员和临床医生与专家顾问的接触 网络不受地理或机构限制，并通过自动化和标准化案例状态更新，以及 3)向DCoE和/或其合作者提供子奖项，以促进现场协调、数据共享， 试点研究项目，并记录DMCC总体目标的进展情况。

PROJECT SUMMARY The clinical and biomedical research culture established in the Undiagnosed Diseases Network (UDN) and the Undiagnosed Diseases Program (UDP) led to collaborations within and across institutions that advanced diagnostic success and biological understandings. In order to provide access to this process for a broader number of patients, the individualized translational research process developed in the UDN and UDP must be scaled. The overarching goal of the Clinical Research Support Core of the Data Management Coordinating Center (DMCC) for Diagnostic Centers of Excellence (DCoEs) is to expand this model. This will be accomplished through implementation of computational models that predict likelihood of diagnosis, integration with national and international matchmaking networks, and expanding membership in the undiagnosed and rare disease ecosystem to include previously under- and unrepresented entities. To achieve this goal, the Clinical Research Support Core will focus on the following three specific aims: 1) Establish and manage Case Review Committee meetings and accelerate applicant evaluations, 2) Accelerate diagnostic success by expanding access of DCoE and UDP investigators and clinicians to expert consultants in other matchmaking networks unlimited by geography or institution and by automating and standardizing case status updates, and 3) Provide subawards to DCoEs and/or their collaborators to facilitate on-site coordination, data sharing, and pilot research projects and document progress toward overall DMCC goals.