Pilot and Feasibility Core

试点和可行性核心-摘要/项目摘要 糖基化联合体(FCGDC‘s)先天疾病的前沿试点和可行性核心 采用双管齐下的策略来改善CDG患者护理。一方面，核心将认识到和 资助由研究人员提出的以CDG为重点的尖端研究，这些研究对CDG领域是新的。的目标是 这是为了向他们提供支持(患者、样本、技术资源和资金)，以产生初步的 联邦应用程序的数据。这将使我们能够培养和保持一支充满活力的科学和临床工作队伍。 它的重点是改善CDG患者的护理。同时，我们认识到CDG是一种罕见的疾病， 孤立地工作(即没有患者或临床环境)可能不会产生临床上有用的结果。因此，我们将 还将开发一个以CDG为重点的国家级年度研讨会，将患者、CDG临床医生、 CDG科学专家和FCDGC试点和可行性奖获得者。这样做的目标是提供一个单一的 讨论患者问题并将其转化为可靠研究的平台，其结果可能 改善CDG患者护理。我们认为，实施上述两项战略不仅将确保 充满活力的临床和科学队伍专注于CDG患者的护理，但也加速了研究成果 为CDG患者提供实用的临床护理解决方案。

PILOT & FEASIBILITY CORE- ABSTRACT/PROJECT SUMMARY The Frontiers in Congenital Disorders of Glycosylation Consortium's (FCGDC's) Pilot and Feasibility Core employs a dual pronged strategy for improving CDG patient care. On one hand, the core will recognize and fund cutting-edge CDG-focused research proposed by investigators that are new to the CDG field. The goal for this is to provide them with support (patients, samples, technical resources and funds) to generate preliminary data for a federal application. This will allow us to train and maintain a vibrant scientific and clinical workforce which is focused on improving CDG patient care. In parallel, we recognize that CDG is a rare disease and working in isolation (i.e. without patient or clinical context) may not yield clinically useful results. Hence, we will also develop a national level CDG-focused annual symposium that will bring together patients, CDG clinicians, CDG scientific experts and FCDGC pilot and feasibility awardees. The goal for this is to provide a singular platform where patient issues are discussed and morphed into sound research studies whose results could improve CDG patient care. We believe that implementing both of the above strategies will not only ensure a vibrant clinical and scientific workforce focused on CDG patient care but also accelerate the research findings into practical clinical care solutions for CDG patients.