Epilepsy Multiplatform Variant Prediction (EpiMVP) - Admin Core
癫痫多平台变异预测 (EpiMVP) - 管理核心
基本信息
- 批准号:10670354
- 负责人:
- 金额:$ 22.38万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 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:
- 关键词:Advisory CommitteesCaliforniaCaregiversClinicalCollaborationsCommunicationCommunitiesComputational BiologyDevelopmentElectrophysiology (science)EpilepsyEthicsFacultyFamilyFundingGenesGeneticGrantGuidelinesHealth ProfessionalHumanIndividualInformation DisseminationInfrastructureInstitutionInternationalJournalsLeadershipLegalLinkMedicineMentorsMentorshipMichiganMissionNational Institute of Neurological Disorders and StrokeNeurologyNeurosciencesOther GeneticsOutcomeParentsPatientsPharmacologyPostdoctoral FellowPrincipal InvestigatorProductivityPublicationsPublishingReportingResearchResearch PersonnelResourcesSan FranciscoScienceScientistTrainingUnderrepresented PopulationsUnited StatesUnited States National Institutes of HealthUniversitiesVariantWashingtonWomanWorkclinical caredata sharingdiversity and inclusionepileptic encephalopathiesgenetic variantgraduate studentmedical schoolsmeetingsmembernext generationoutreachpatient advocacy groupprogramssuccesssymposiumtoolweb site
项目摘要
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.
癫痫多层面变体预测(EPIMVP)行政核心的总体任务是监督
并协调没有墙壁(CWOW)的EPIMVP中心的活动,包括基因的工作和
变体策划核心(GVCC),人类癫痫工具核心(HETC),三个科学项目以及
与计划宪章,出版物,数据共享,与科学的通信有关的中心范围的事项
和外行社区以及道德/法律问题。行政核心的主要调查员(PIS)/董事,
博士。洛里·伊索姆(Lori Isom)和杰克·普尔(Jack Parent)
调查人员简单地进行多个项目,并传播研究结果,将提供
在拟议中心的五年中,EPIMVP的总体领导能力。博士。 Isom和父母也会
担任EPIMVP指导委员会的联合主席,该委员会将由所有EPIMVP PI和Core组成
董事(Ross博士,Wang博士,Carvill博士和Uhler博士),对战略方向负责
整个中心的运营活动。 EPIMVP计划以密歇根大学为中心
到坎山弗朗西斯科大学,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,神经科学,神经科学专家组成
药理学和电生理学,他们在癫痫研究的最前沿具有广泛的专业知识
研究与发育和癫痫性脑病和其他遗传性癫痫有关的基因变异。
许多调查人员之间进行了长期,正在进行的合作。增加了三名调查员
到癫痫领域,罗斯博士,施内尔博士和拜博士,强调了CWOW,并带来了新的视角
癫痫研究中的已知问题。强大的机构支持,由大学提供给小组
MI医学院和密歇根大学药理学和神经病学系的形式
行政基础设施,计划赠款资金和受训者的支持,进一步确保了这一成功
提议。 EPIMVP行政核心试图完成以下里程碑:1。
EPIMVP计划,开发,协调和整体管理的领导和专业知识。 2。
监督其成员和Ninds中的CWOW活动的报告,并传播信息
从科学家到临床医生再到患者和家庭的EPIMVP调查结果。 3
帮助培训和指导下一代科学家,以提高对通用的理解和治疗
情节。 EPIMVP行政核心的预期结果是:1)有效,
富有成效和协作的多机构CWOW; 2)EPIMVP成员之间的有效沟通
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)对下一代癫痫研究人员的培训和心理。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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Lori L. Isom其他文献
I. Cellular and molecular biology of sodium channel beta-subunits: therapeutic implications for pain?
I. 钠通道 β 亚基的细胞和分子生物学:对疼痛的治疗意义?
- DOI:
- 发表时间:
2000 - 期刊:
- 影响因子:0
- 作者:
Lori L. Isom - 通讯作者:
Lori L. Isom
Dlg1 gene expression and sexual dimorphism in regulation of heart rate and its variability in a murine model
- DOI:
10.1016/j.bpj.2023.11.2358 - 发表时间:
2024-02-08 - 期刊:
- 影响因子:
- 作者:
Danyal Raza;Shoaib Siddiqui;Ivan Kalla;Roberto Mondragon;Oluwadamola Olaiya;Erika Anderson;Lori L. Isom;Omer Berenfeld;Justus M. Anumonwo - 通讯作者:
Justus M. Anumonwo
Modulation of Kv1 Voltage-Gated Potassium Channels by Sodium Channel Beta Subunits
- DOI:
10.1016/j.bpj.2011.11.3733 - 发表时间:
2012-01-31 - 期刊:
- 影响因子:
- 作者:
Hai M. Nguyen;Jeffrey D. Calhoun;Lori L. Isom;Alan L. Goldin;George K. Chandy - 通讯作者:
George K. Chandy
Dramatic Improvement in Seizures With Phenytoin Treatment in an Individual With Refractory Epilepsy and a <em>SCN1B</em> Variant
- DOI:
10.1016/j.pediatrneurol.2020.03.012 - 发表时间:
2020-07-01 - 期刊:
- 影响因子:
- 作者:
Louis T. Dang;Shane C. Quinonez;Bridget R. Becka;Lori L. Isom;Sucheta M. Joshi - 通讯作者:
Sucheta M. Joshi
Lori L. Isom的其他文献
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{{ truncateString('Lori L. Isom', 18)}}的其他基金
Development and Validation of a Transgenic Rabbit Model of Dravet Syndrome
Dravet 综合征转基因兔模型的开发和验证
- 批准号:
10574719 - 财政年份:2023
- 资助金额:
$ 22.38万 - 项目类别:
Interdepartmental Training in Pharmacological Sciences
药理学科学跨部门培训
- 批准号:
10616678 - 财政年份:2021
- 资助金额:
$ 22.38万 - 项目类别:
Interdepartmental Training in Pharmacological Sciences
药理学科学跨部门培训
- 批准号:
10397983 - 财政年份:2021
- 资助金额:
$ 22.38万 - 项目类别:
Cardiac Mechanisms of Sudden Unexpected Death in Epilepsy
癫痫猝死的心脏机制
- 批准号:
10454393 - 财政年份:2020
- 资助金额:
$ 22.38万 - 项目类别:
Development of a Rabbit Model of SCN1A-linked Dravet Syndrome
SCN1A 相关 Dravet 综合征兔模型的开发
- 批准号:
10062010 - 财政年份:2020
- 资助金额:
$ 22.38万 - 项目类别:
Cardiac Mechanisms of Sudden Unexpected Death in Epilepsy
癫痫猝死的心脏机制
- 批准号:
10661021 - 财政年份:2020
- 资助金额:
$ 22.38万 - 项目类别:
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