Administrative Core

正如本提案的总体部分所述，拟议中心的总体目标是 了解和解决FMR1前突变的分子和遗传机制 疾病，重点是脆性X震颤共济失调综合征(FXTAS)和脆性X相关的原发性 卵巢功能不全(FXPOI)，并回答有关CGG角色的基本问题 在FMR1功能和功能障碍中重复。拟建的中心整合了大量的研究人才 贝勒医学院(BCM)、密歇根大学医学院(UM)和埃默里大学的小组 埃默里大学医学院。这些团体在协作互动方面有着重要的历史， 他们的共同兴趣将导致强有力的发现，将建议治疗方法的FXTAS，FXPOI 可能还有脆性X综合征(FXS)。监督所有研究的明确的领导和管理计划 努力对拟议工作的成功至关重要，并将确保中心设定的目标 调查人员得到及时和高效的会见。为了实现我们中心的目标，行政部门 CORE将为该中心的调查人员提供支持。由联席董事David Nelson博士和Peter Todd博士领导( 项目2和项目1)，并由LaTonya Beivers女士协助，行政核心将是 负责中心整体的经营管理工作。规划和协调 协同研究活动将通过这个中央枢纽整合起来。努力将由一个 执行团队，包括艾米丽·艾伦博士和斯蒂芬妮·谢尔曼博士，项目3联合绩效指标，在 执行咨询委员会，由四名外部委员会成员组成，他们将负责中心的所有业务 并帮助确保每个拟议项目的及时完成。此外，行政核心将是 负责财务和资源管理，并保持两地之间的沟通畅通 中心调查人员、项目工作人员、NIH官员和外汇研究人员。我们还将把重点放在 关于与神经科学领域更广泛的科学家和临床医生社区的沟通和接触， 遗传学、神经学、产科和儿科学，以及与公众的联系。培训和教育机会是 通过定期安排的期刊俱乐部、研究报告和一年一度的脆性X关联 混乱(FXaD)研讨会从第二年开始。这些活动将培养人们对外汇研究的更深兴趣 在新一代青年科学家中，以及鼓励和激励各级调查人员 而不是在我们的领域从事与FXADS相关的研究。我们设想BCM-密歇根-埃默里脆弱 研究X中心将是令人兴奋的科学研究、培训和临床前努力的纽带，专注于 FXADS治疗新疗法的发展。

As described in the Overall component of this proposal, the overarching goal of the proposed Center is to understand and address the molecular and genetic mechanisms underlying the FMR1 premutation disorders, focusing on Fragile X tremor ataxia syndrome (FXTAS) and Fragile X associated primary ovarian insufficiency (FXPOI), and to answer fundamental questions regarding the roles of the CGG repeats in FMR1 function and dysfunction. The proposed Center integrates the substantial talents of research groups at Baylor College of Medicine (BCM), University of Michigan School of Medicine (UM) and Emory University School of Medicine (Emory). These groups have a significant history of collaborative interaction, and their common interests will lead to robust findings that will suggest therapeutic approaches to FXTAS, FXPOI and possibly fragile X syndrome (FXS). A well-defined leadership and management plan overseeing all research endeavors is critical for the success of the proposed work and will ensure that goals set by the Center Investigators are met in a timely and efficient manner. To accomplish the goals of our Center, the Administrative Core will support the Center's Investigators. Led by co-Directors Drs. David Nelson and Peter Todd (leaders of Projects 2 and 1, respectively), and assisted by Ms. LaTonya Beavers, the Administrative Core will be responsible for the management and administration of the overall Center. The planning and coordination of the synergistic research activities will be integrated through this central hub. Efforts will be conducted by an Executive Team, including Drs. Emily Allen and Stephanie Sherman, Project 3 Co-PIs, with the guidance of an Executive Advisory Board, composed of four external committee members who will address all Center operations and help to ensure the timely completion of each proposed project. In addition, the Administrative Core will be responsible for fiscal and resource management, as well as maintaining open lines of communication between Center Investigators, Project Staff, NIH officials, and FX researchers. A significant emphasis will also be placed on communication and engagement with the broader community of scientists and clinicians in neuroscience, genetics, neurology, obstetrics and pediatrics, and with the public. Training and educational opportunities are provided through regularly scheduled journal clubs, research presentations, and an annual Fragile X-Associated Disorders (FXaDs) Symposium beginning in year 2. These activities will foster a deeper interest in FX research in the new generation of young scientists, as well as encourage and stimulate investigators at all levels who may not be in our field to pursue studies related to FXaDs. We envision that the BCM-Michigan-Emory Fragile Research X Center will be a nexus of exciting scientific research, training and preclinical endeavors focused on development of novel therapeutics for FXaDs.