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: 9136241
• 负责人: ALICA M GOLDMAN
• 金额: $ 15.32万
• 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/9136241
• 关键词: Algorithms; Autopsy; Basic Science; CLIA certified; Cardiac Myocytes; Cell physiology; Cessation of life; Chad; Childhood; Clinical; Clinical Investigator; Collaborations; Communication; Communities; Core Facility; DNA; DNA Sequence; DNA Sequence Analysis; DNA analysis; Data; Detection; Diagnosis; Diagnostic Services; Electrophysiology (science); Epilepsy; Faculty; Family; Forensic Medicine; Fostering; Genes; Genetic; Genetic Counseling; Genetic Risk; Genomics; Goals; Health; 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 information; genetic variant; genomic data; high risk; human DNA; induced pluripotent stem cell; molecular diagnostics; novel; patient advocacy group; predictive marker; repository; risk variant; sudden unexpected death in epilepsy; 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.