Epilepsy Multiplatform Variant Prediction (EpiMVP) - Admin Core

癫痫多平台变异预测 (EpiMVP) - 管理核心

• 批准号: 10670354
• 负责人: Lori L. Isom
• 金额: $ 22.38万
• 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/10670354
• 关键词: Advisory Committees; California; Caregivers; Clinical; Collaborations; Communication; Communities; Computational Biology; Development; Electrophysiology (science); Epilepsy; Ethics; Faculty; Family; Funding; Genes; 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; Productivity; 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 并协调EpiMVP无墙中心（CWOW）的活动，包括基因和 变异治疗核心（GVCC），人类癫痫工具核心（HETC），三个科学项目，以及 与项目章程、出版物、数据共享、与科学家的沟通有关的中心范围内的事项 以及伦理/法律的问题。行政核心的主要研究者（PI）/主任， Drs.洛里·伊森和杰克·帕伦特在合作、协调 研究人员同时进行多个项目，并传播研究成果，将提供 全面领导EpiMVP在整个五年的拟议中心。Isom博士和Parent博士也将 担任EpiMVP指导委员会的联合主席，该委员会将由所有EpiMVP PI和核心组成 董事（Ross博士、Wang博士、Carvill博士和Uhler博士）负责战略方向， 整个中心的业务活动。EpiMVP计划以密歇根大学为中心， 加州大学旧金山弗朗西斯科、西北大学、华盛顿大学和威尔康奈尔大学 医学，是由遗传学，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， 研究与发育性和癫痫性脑病及其他遗传性癫痫有关的基因变异。 许多研究人员之间有着长期、持续的合作。增加三名调查员 Ross博士、Schnell博士和Bai博士在癫痫领域加强了CWOW，并带来了新的视角 癫痫研究中的已知问题。香港大学为该小组提供了强有力的机构支持。 MI医学院和MI大学药理学和神经病学系以 行政基础设施、规划拨款和培训人员支持，进一步确保了这一目标的成功。 提议EpiMVP管理核心旨在实现以下目标：1.提供 领导和专业知识的规划，发展，协调和整体管理的EpiMVP。2. 监督在其成员范围内和向国家土著和民族问题研究所报告妇女中心的活动，并传播信息 关于EpiMVP的研究结果，从科学家到临床医生，再到患者和家属。3.到 帮助培训和指导下一代科学家，以促进对遗传病的理解和治疗。 癫痫EpiMVP行政核心的预期成果是：1）领导一个高效， 高效、协作的多机构CWOW; 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， 患者/家庭，3）培训和指导下一代癫痫研究人员。