Integrated Genomic and Metabolomic Profiles in Newborn Infants

新生儿的综合基因组和代谢组图谱

• 批准号: 8582157
• 负责人: KELLI K. RYCKMAN
• 金额: $ 24.9万
• 依托单位: UNIVERSITY OF IOWA
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-08-20 至 2016-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8582157
• 关键词: Affect; Antibodies; Area; Award; Biochemical; Biological; Biological Assay; Biological Markers; Blood; Clinical; Clinical Sciences; Collection; Communicable Diseases; Complex; Consult; Coronary heart disease; Cystic Fibrosis; DNA; Data; Data Storage and Retrieval; Databases; Development; Development Plans; Disease; Dizygotic Twins; Elements; Environment; Environmental Risk Factor; Enzymes; Epidemiology; Etiology; Faculty; Fluorescence; Funding; Gender; Genetic; Genetic Polymorphism; Genomics; Genotype; Gestational Age; Goals; Hemoglobinopathies; Hereditary Disease; Heritability; Inborn Errors of Metabolism; Inborn Genetic Diseases; Individual; Infant; Institutes; Iowa; Knowledge; Learning; Lipids; Low Birth Weight Infant; Mass Spectrum Analysis; Measurement; Medicine; Mentors; Metabolic; Modeling; Monozygotic Twinning; Monozygotic twins; Neonatal; Neonatal Screening; Newborn Infant; Outcome Measure; Pathway interactions; Perinatal; Perinatal Disorder; Phase; Premature Birth; Public Health; Research; Resources; Risk; Scientist; Screening Result; Spottings; Students; Study models; Subjects Selections; Techniques; Testing; Training; Translational Research; Twin Multiple Birth; Universities; Variant; Work; analytical method; career; career development; college; cytokine; disorder risk; endophenotype; experience; genetic epidemiology; genetic variant; genome wide association study; human disease; innovation; meetings; member; metabolomics; premature; professor; programs; repository; reproductive; research study; screening; skills; statistics; symposium; tandem mass spectrometry; tool

PROJECT SUMMARY Candidate: Dr. Kelli Ryckman is a Postdoctoral Research Fellow for the Carver College of Medicine at the University of Iowa. Her primary research focus is on the genetics and epidemiology of complex reproductive disorders including preterm birth and related complications. Her short-term career goals are to enhance her knowledge of the genetics of complex reproductive and perinatal conditions in newborns and to gain additional skills in analytical methods and techniques for elucidating risks of complex diseases. Her long-term goals are to become a funded independent scientist in the fields of genetics, statistics and epidemiology as tenure-track faculty at a University. Her research plan is innovative in combining genomic and metabolomic profiles to understand complex disease risks. This research will utilize the Iowa Newborn Metabolic Screening Program (INMSP) where a deep resource of phenotypic, environmental and genetic components is available. This research has the potential to identify new biological pathways involved in neonatal disease and to have direct clinical impact on universal newborn screening programs. Mentors and Consultants: Dr. Jeff Murray will serve as primary mentor on this award. He is a well-funded full professor at the University of Iowa with 25 years of experience in training successful graduate and postdoctoral students. Dr. Mary Marazita, an expert in the field of statistical genetics, will serve as co-mentor of this award. Drs. Stanton Berberich and Kristi Borowski will serve as consultants on this project by providing clinical and statistical genetic expertise. Drs. Sara Copeland, John Dagle and Jonathan Haines will serve as external advisory members and will consult with, advise and evaluate the progress of Dr. Ryckman throughout the award period and have complementary expertise in the metabolomics of the neonatal biochemical milieu, the complications of preterm birth and genomic analysis. Environment: The University of Iowa has an established reputation for the successful training of graduate and postdoctoral students, particularly in research and clinical areas. The University offers a range of learning and development seminars as well as other programs focused on career development and advancement and particularly benefits from training opportunities deriving from its ICTS (Institute for Clinical and Translational Sciences) support by a CTSA award. Career Development Plan: Dr. Ryckman plans to meet regularly with her mentors, consultants and external advisory members to gain the knowledge necessary to obtain her career and research goals as well as attending tutorials, courses, seminars and relevant conferences. Research Study: The focus of this study is to use the Iowa newborn screening data as a model for studying the metabolomic and genomic profiles of newborns and relate the profiles to human disease, particularly prematurity and its complications.

项目摘要 候选人：Kelli Ryckman博士是卡弗医学院的博士后研究员， 爱荷华州大学。她的主要研究重点是复杂生殖系统疾病的遗传学和流行病学。 包括早产和相关并发症在内的疾病。她的短期职业目标是提高她的 了解新生儿复杂的生殖和围产期疾病的遗传学知识，并获得额外的 掌握分析方法和技术，以阐明复杂疾病的风险。她的长期目标是 成为遗传学，统计学和流行病学领域的独立科学家， 在一所大学任教。她的研究计划在结合基因组学和代谢组学方面具有创新性， 了解复杂的疾病风险。这项研究将利用爱荷华州新生儿代谢筛查计划 （INMSP），其中表型，环境和遗传成分的深层资源可用。这 研究有可能确定新生儿疾病所涉及的新的生物学途径， 对普遍新生儿筛查计划的临床影响。导师和顾问：杰夫·默里博士将担任 作为这个奖项的主要导师他是爱荷华州大学资金充足的正教授， 培养成功的研究生和博士后学生的经验。玛丽玛拉兹塔博士，这方面的专家 统计遗传学博士将担任该奖项的共同导师。Stanton Berberich博士和Kristi Borowski博士将 通过提供临床和统计遗传学专业知识，担任该项目的顾问。莎拉·科普兰医生 John Dagle和Jonathan Haines将担任外部顾问成员，并将与 在整个授予期间评估Ryckman博士的进展，并在 新生儿生化环境的代谢组学、早产并发症和基因组分析。 环境：爱荷华州大学在成功培养研究生和 博士后学生，特别是在研究和临床领域。大学提供一系列的学习和 发展研讨会以及其他侧重于职业发展和进步的方案， 特别受益于ICTS（临床和翻译研究所）提供的培训机会 科学）由CTSA奖支持。职业发展计划：Ryckman博士计划定期与她会面 导师，顾问和外部咨询成员，以获得必要的知识，以获得她的职业生涯 和研究目标，以及参加辅导，课程，研讨会和相关会议。研究 研究：本研究的重点是使用爱荷华州的新生儿筛查数据作为研究 新生儿的代谢组学和基因组谱，并将谱与人类疾病，特别是 早产及其并发症。