Integrated Genomic and Metabolomic Profiles in Newborn Infants

项目总结 候选人：凯利·莱克曼博士，卡佛医学院博士后研究员 爱荷华大学。她的主要研究重点是复杂生殖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升她的能力 了解新生儿复杂生殖和围产期疾病的遗传学知识，并获得更多 掌握阐明复杂疾病风险的分析方法和技术。她的长期目标是 成为遗传学、统计学和流行病学领域的有资助的独立科学家，作为终身教职 大学里的教员。她的研究计划在结合基因组和新陈代谢图谱方面具有创新性 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)，那里有丰富的表型、环境和遗传成分资源。这 研究有可能确定与新生儿疾病有关的新的生物途径，并直接 对全民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。他是爱荷华大学资金雄厚的全职教授，有25年的 培养成功的研究生和博士后的经验。玛丽·马拉齐塔博士，该领域的专家 统计遗传学教授将担任该奖项的共同导师。斯坦顿·伯伯里奇博士和克里斯蒂·博洛夫斯基博士将 作为这个项目的顾问，提供临床和统计遗传专业知识。萨拉·科普兰博士， 约翰·达格尔和乔纳森·海恩斯将担任外部顾问成员，并将与 评估瑞克曼博士在整个获奖期间的进展，并在以下方面拥有互补的专业知识 新生儿生化环境代谢组学、早产并发症及基因组分析。 环境：爱荷华大学以成功培养研究生和 博士后，特别是研究和临床领域的博士后。该大学提供一系列的学习和 发展研讨会以及其他以职业发展和晋升为重点的方案 尤其受益于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：莱克曼博士计划定期与她会面 导师、顾问和外部顾问成员，以获得获得职业生涯所需的知识 和研究目标，以及参加教程、课程、研讨会和相关会议。研究 研究：这项研究的重点是使用爱荷华州的新生儿筛查数据作为研究 新生儿的代谢和基因组图谱，并将这些图谱与人类疾病，特别是 早产及其并发症。

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.