SUDEP Research Alliance: Systems Medicine Core, Application 3 of 7

SUDEP 研究联盟：系统医学核心，应用 3（共 7）

• 批准号: 8819638
• 负责人: John William Belmont
• 金额: $ 15.73万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-09-30 至 2019-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8819638
• 关键词: Algorithms; Autopsy; Basic Science; Biological Markers; Cardiac Myocytes; Cell physiology; Cessation of life; Chad; Childhood; Clinical; Clinical Data; Clinical Investigator; Collaborations; Communication; Communities; Core Facility; DNA; DNA Sequence; DNA Sequence Analysis; DNA analysis; Data; Detection; Diagnosis; Diagnostic; Diagnostic Services; Epilepsy; Faculty; Family; Forensic Medicine; Fostering; Genes; Genetic; Genetic Counseling; Genetic Risk; Genomics; Goals; Heart Diseases; Human; Human Resources; Individual; Knowledge; Laboratories; Life; Link; Medical Ethics; Medicine; Mission; Molecular; Monitor; Mutation; National Institute of Neurological Disorders and Stroke; Neurons; Parents; Patients; Phenotype; Physicians; Premature Mortality; Preparation; Prevention; Process; Protocols documentation; Quality Control; Research; Research Personnel; Resources; Risk; Risk Assessment; Sampling; Secure; Specimen; Stem cells; Structure; Syndrome; System; Testing; Translating; Translational Research; United States National Institutes of Health; Variant; Work; clinical phenotype; clinical practice; clinical risk; cohort; data exchange; data integration; data sharing; density; experience; gene discovery; genetic variant; high risk; human DNA; induced pluripotent stem cell; novel; patient advocacy group; public health relevance; repository; risk variant; web based interface

 DESCRIPTION (provided by applicant): This core will support data integration and DNA analysis needs of the SRA projects by delivering high density genetic variant profiling of human DNA samples submitted from Project 1 (human forensic SUDEP cases and EMU monitored epilepsy patients with high risk clinical phenotypes). Project 3 will also submit samples of Dravet Syndrome patient-derived IPSCs for analysis of clonal integrity in stem cell-induced neurons and cardiac myocytes. A major benefit of this core is the professional and scientific expertise of the faculty involved. The Director, Dr. John Belmont, has long experience in handling large scale genomic pipeline analysis of pediatric cardiac disease. The bioinformatician and statistician Dr. Chad Shaw has excellent research expertise in variant profiling and curation of personal genomics as well as general statistical knowledge for handling and integration of quantitative physiology and cellular phenotype data. Dr. Amy McGuire, is a pioneer in medical ethics of translational genomic data, and an essential aspect of the genetic information given the life or death import of the genes in this project. These personnel will be assisted in coordinating this project by Dr. Goldman and Noebels.

 描述（由申请人提供）：该核心将通过提供项目1提交的人类DNA样本的高密度遗传变异分析（人类法医SUDEP病例和EMU监测的具有高风险临床表型的癫痫患者），支持SRA项目的数据集成和DNA分析需求。项目3还将提交Dravet样品 综合征患者来源的IPSC用于分析干细胞诱导的神经元和心肌细胞中的克隆完整性。这个核心的一个主要好处是所涉教师的专业和科学知识。主任John贝尔蒙特博士在处理儿科心脏病的大规模基因组管道分析方面具有长期经验。生物信息学家和统计学家Chad Shaw博士在个人基因组学的变异分析和管理方面具有出色的研究专长，以及处理和整合定量生理学和细胞表型数据的一般统计知识。Amy McGuire博士是翻译基因组数据医学伦理学的先驱，也是遗传信息的一个重要方面，因为该项目中基因的生命或死亡进口。Goldman博士和Noebels将协助这些人员协调本项目。