Pilot and Feasibility Core

试点和可行性核心-摘要/项目总结 先天性糖基化疾病前沿联盟（FCGDC）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， 资助由CDG领域的新研究人员提出的以CDG为重点的前沿研究。的目标 这是为他们提供支持（患者，样本，技术资源和资金），以产生初步的 联邦申请的数据。这将使我们能够培养和维持一支充满活力的科学和临床工作队伍 致力于改善CDG患者的护理同时，我们认识到CDG是一种罕见疾病， 单独工作（即没有患者或临床背景）可能不会产生临床有用的结果。因此，我们将 还制定了一个国家级的CDG为重点的年度研讨会，将汇集患者，CDG临床医生， CDG科学专家和FCDGC试点和可行性获奖者。这样做的目的是提供一个单一的 讨论患者问题并将其转化为合理研究的平台，其结果可以 改善CDG患者护理。我们认为，实施上述两项战略不仅可以确保 充满活力的临床和科学工作人员专注于CDG患者护理，但也加速了研究结果 转化为CDG患者的实用临床护理解决方案。

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.