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: 8619646
• 负责人: KELLI K. RYCKMAN
• 金额: $ 24.2万
• 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/8619646
• 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.

项目总结