Epilepsy Multiplatform Variant Prediction (EpiMVP) - Admin Core

癫痫多平台变异预测 (EpiMVP) - 管理核心

• 批准号: 10265440
• 负责人: Lori L. Isom
• 金额: $ 22.84万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-09-15 至 2025-07-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10265440
• 关键词: Advisory Committees; California; Clinical; Collaborations; Communication; Communities; Community Healthcare; Computational Biology; Development; Electrophysiology (science); Epilepsy; Ethics; Faculty; Family; Family Caregiver; Funding; Genetic; Grant; Guidelines; Health Professional; Human; Individual; Information Dissemination; Infrastructure; Institution; International; Journals; Leadership; Legal; Link; Medicine; Mentors; Mentorship; Michigan; Mission; National Institute of Neurological Disorders and Stroke; Neurology; Neurosciences; Other Genetics; Outcome; Parents; Patients; Pharmacology; Postdoctoral Fellow; Principal Investigator; Publications; Publishing; Reporting; Research; Research Personnel; Resources; San Francisco; Science; Scientist; Training; Underrepresented Populations; United States; United States National Institutes of Health; Universities; Variant; Washington; Woman; Work; clinical care; data sharing; diversity and inclusion; epileptic encephalopathies; genetic variant; graduate student; medical schools; meetings; member; next generation; outreach; patient advocacy group; programs; success; symposium; tool; web site

The overall mission of the Epilepsy Multiplatform Variant Prediction (EpiMVP) Administrative Core is to oversee and coordinate the activities of the EpiMVP Center Without Walls (CWOW), including the work of the Gene and Variant Curation Core (GVCC), the Human Epilepsy Tools Core (HETC), the three Scientific Projects, as well as center-wide matters related to the program charter, publications, data sharing, communications with the scientific and lay communities, and ethical/legal issues. The Administrative Core’s Principal Investigators (PIs)/Directors, Drs. Lori Isom and Jack Parent, who have a successful track record of working together, coordinating groups of investigators, conducting multiple projects simultaneously, and disseminating research findings, will provide overall leadership to EpiMVP throughout the five years of the proposed Center. Drs. Isom and Parent will also serve as Co-Chairs of the EpiMVP Steering Committee, which will be composed of all EpiMVP PIs and Core Directors (Dr. Ross, Dr. Wang, Dr. Carvill, and Dr. Uhler) and have responsibility for the strategic direction and operational activities of the entire Center. The EpiMVP Program, centered at the University of MI and reaching out to the University of CA-San Francisco, Northwestern University, the University of WA, and Weill Cornell Medicine, is composed of international experts in genetics, clinical care, computational biology, neuroscience, pharmacology, and electrophysiology who are at the forefront of epilepsy research with broad expertise in the study of gene variants linked to developmental and epileptic encephalopathies and other genetic epilepsies. Long-term, on-going collaborations are in place between many investigators. The addition of three investigators to the epilepsy field, Dr. Ross, Dr. Schnell, and Dr. Bai, strengthens the CWOW and brings a fresh perspective to known problems in epilepsy research. Strong institutional support, provided to the group by the University of MI Medical School and the University of MI Departments of Pharmacology and Neurology in the form of administrative infrastructure, planning grant funding, and trainee support, further insures the success of this proposal. The EpiMVP Administrative Core seeks to accomplish the following Milestones: 1. To provide leadership and expertise for the planning, development, coordination, and overall administration of EpiMVP. 2. To oversee reporting of CWOW activities within its membership and to NINDS and to disseminate information regarding EpiMVP findings to a broad constituency, from scientists to clinicians to patients and families. 3. To help train and mentor the next generation of scientists to advance the understanding and treatment of genetic epilepsies. The expected outcomes of the EpiMVP Administrative Core are: 1) Leadership of an efficient, productive, and collaborative multi-institutional CWOW; 2) Effective communication between EpiMVP members and NINDS, as well as rapid dissemination of results to the research community, healthcare professionals, and patients/families, 3) Training and mentoring of the next generation of epilepsy researchers.

癫痫多平台变异预测 (EpiMVP) 管理核心的总体使命是监督 协调 EpiMVP Center Without Walls (CWOW) 的活动，包括 Gene 和 变异管理核心 (GVCC)、人类癫痫工具核心 (HETC)、三个科学项目以及 与计划章程、出版物、数据共享、与科学界沟通有关的中心范围事务 以及非专业社区和道德/法律问题，以及行政核心的首席研究员 (PI)/董事， Lori Isom 博士和 Jack Parent 博士在合作、协调小组方面有着成功的记录。 研究人员同时开展多个项目并传播研究成果，将提供 Isom 和 Parent 博士还将在拟议中心的五年内全面领导 EpiMVP。 担任 EpiMVP 指导委员会的联合主席，该委员会将由所有 EpiMVP PI 和核心人员组成 董事（Ross 博士、Wang 博士、Carvill 博士和 Uhler 博士）负责战略方向和 EpiMVP 项目以密歇根大学为中心并覆盖整个中心的运营活动。 前往加州大学旧金山分校、西北大学、华盛顿大学和威尔康奈尔大学 医学，由遗传学、临床护理、计算生物学、神经科学、 药理学和电生理学，他们处于癫痫研究的前沿，在该领域拥有广泛的专业知识 研究与发育性脑病和癫痫性脑病以及其他遗传性癫痫相关的基因变异。 许多研究人员之间存在长期、持续的合作。 Ross博士、Schnell博士和Bai博士为癫痫领域强化了CWOW并带来了全新的视角 癫痫研究中的已知问题由大学向该小组提供了强有力的机构支持。 密歇根州医学院和密歇根大学药理学和神经病学系 行政基础设施、规划赠款资金和实习生支持进一步确保了这一项目的成功 EpiMVP 管理核心力求实现以下里程碑： 1. 提供 EpiMVP 2 的规划、开发、协调和整体管理的领导力和专业知识。 监督其成员内部以及向 NINDS 报告 CWOW 活动并传播信息 向广泛的支持者（从科学家到战士到患者和家庭）介绍 EpiMVP 的发现。 3. 帮助培训和指导下一代科学家，以促进对遗传性疾病的理解和治疗 EpiMVP 行政核心的预期成果是： 1) 高效、 2）EpiMVP成员之间的有效沟通 和 NINDS，以及将结果快速传播给研究界、医疗保健专业人员和 患者/家庭，3) 培训和指导下一代癫痫研究人员。