Genetic and Environmental Risks for Oral Clefts in Puerto Rican Hispanics

波多黎各西班牙裔口腔裂的遗传和环境风险

• 批准号: 8893047
• 负责人: Carmen J. Buxo
• 金额: $ 12.7万
• 依托单位: UNIVERSITY OF PUERTO RICO MED SCIENCES
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-09-01 至 2018-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8893047
• 关键词: Achievement; Address; Affect; Alcohol consumption; Applications Grants; Award; Biological; Biological Markers; Birth; Blood; Candidate Disease Gene; Carbon; Caribbean region; Center for Translational Science Activities; Child; Cleaved cell; Clinical; Clinical Data; Clinical Research; Complex; Congenital Abnormality; Continuing Education; DNA; Data; Data Analyses; Dental Schools; Dentistry; Development Plans; Dietary Practices; Disease; Education; Enrollment; Environment; Environmental Epidemiology; Environmental Exposure; Environmental Risk Factor; Epidemiology; Etiology; Evaluation; Faculty; Family member; Folic Acid; Folic Acid Deficiency; Food; Frequencies; Funding; Future; Gene Mutation; Genetic; Genetic Polymorphism; Genetic Predisposition to Disease; Genetic Risk; Genetic Techniques; Genetic Variation; Genetic study; Genomics; Genotype; Goals; Guidelines; Health; Hemoglobin; Hispanics; Image; Individual; Infant; Institution; Iowa; Knowledge; Lead; Leptin; Lipids; Live Birth; Maternal Exposure; Mediating; Medical; Medicine; Mentors; Metabolic Diseases; Metabolic syndrome; Metabolism; Minority; Minority Groups; Mitochondria; Modeling; Modification; Molecular Genetics; Mothers; National Institute of Dental and Craniofacial Research; Nutrition Assessment; Nutritional; Oral health; Participant; Pathogenesis; Pathway interactions; Phase; Phenotype; Population; Population Heterogeneity; Pregnancy; Prevalence; Prevention; Prevention Guidelines; Prevention strategy; Public Health; Public Health Education; Public Health Schools; Puerto Rican; Puerto Rico; Recommendation; Relative (related person); Reporting; Research; Research Personnel; Risk; Risk Factors; Role; Sample Size; Sampling; Science; Sequence Analysis; Smoking; Students; Supplementation; Susceptibility Gene; Techniques; Three-Dimensional Imaging; Training; Translational Research; Triad Acrylic Resin; United States National Institutes of Health; Universities; Variant; Vitamin Deficiency; Vitamins; Work; career; career development; case control; clinical phenotype; craniofacial; cytokine; design; experience; gene environment interaction; genetic epidemiology; genetic variant; genome wide association study; improved; innovation; insight; interest; meetings; member; molecular imaging; novel; oral cleft; orofacial cleft; professor; programs; research and development; research study; symposium; trait

DESCRIPTION (provided by applicant): Dr. Carmen Buxo is a non-tenured track Assistant Professor and is a National Institute of Dental and Craniofacial Research (NIDCR) Diversity Supplement Recipient at the University of Puerto Rico (UPR) School of Dental Medicine. Her primary research interest is on the genetic and environmental epidemiology of craniofacial disorders including oral clefts. Dr. Buxo's short-term career goals are to expand her knowledge about craniofacial genetics to understand the complex etiology and sub-clinical phenotypic traits of orofacial clefts, and develop her experience in craniofacial imaging, molecular techniques, maternal exposure assessment, and nutritional biomarkers analysis. Her long-term career goals are to become an independent investigator with successful funding in the field of craniofacial genetic epidemiology and oral health as a tenure-track faculty at a leading research University. Her research plan is innovative, using three-dimensional imaging, molecular genetic techniques and maternal biomarkers to investigate the genetic and environmental etiology of oral clefts in Puerto Ricans to understand these complex traits in a Hispanic minority population. This research will use the samples collected through the currently funded Diversity Supplement with the University of Iowa and UPR. The proposed study has the potential of identifying relevant candidate genes and mutations associated with oral clefts in Puerto Rican Hispanics. It will provide new information on the sub- clinical cleft phenotypes of this population and its correlation with significant polymorphisms identified in previous genome wide association studies (GWAS). This study could provide insight into those biological pathways and maternal nutritional biomarkers involved in oral clefts. Those maternal nutritional biomarkers identified and associated with oral cleft risk may have a direct clinical impact on the future prevention of oral clefts in minorities such as Puerto Ricans. Mentors and Consultants: Dr. Jose Cordero will serve as primary mentor on this award. Dr. Cordero is a well-funded full professor and Dean of the UPR School of Public Health with 35 years of experience in studying birth defects and training successful graduate and postdoctoral students. Dr. Jeffrey Murray has been the mentor of Dr. Buxo's Diversity Supplement oral clefts study for two years and is a craniofacial genetics expert and will continue to mentor her in this capacity. Dr. Mary Marazita, co-mentor, and Dr. Manika Govil, consultant, on the proposed project will provide their clinical and statistical genetics expertise. Dr. Ronald Munger will serve as consultant for the analysis of maternal nutritional biomarkers. Drs. Lydia Lopez and George Wehby will serve as external advisory members and consultants providing advice and evaluation of Dr. Buxo's career development and study progress since they have complementary expertise in maternal and infant oral health, craniofacial epidemiology, dentistry and genomic analysis. Environment: The UPR Medical Sciences Campus is a higher education institution with an established reputation for training graduate and postdoctoral students successfully in the Caribbean, particularly in clinical and translational research. The UPR and its campuses offer a broad range of continued education and research development seminars as well as other research programs focused on career development. It provides a clinical research environment through its Research Centers in Minority Institutions (RCMI) and the Puerto Rico Clinical and Translational Research Center (PRCTRC) supported by the National Institutes of Health (NIH). Career Development Plan: Dr. Buxo plans to meet regularly with her mentors, consultants and external advisory members for the achievement of her career and research goals to attain the knowledge needed for her career development by attending relevant seminars, courses, tutorials and conferences/meetings. Research Study: The purpose of this study is to understand the genetic and environmental etiology of oral clefts in a genetically admixed population by identifying the genetic variants and maternal nutritional biomarkers contributing to oral cleft risk in Puerto Rican Hispanics and relate findings to prevention strategies and public health education to reduce the burden of these disorders.

描述(由申请人提供)：Carmen Buxo博士是一名非终身教授，也是波多黎各大学(UPR)牙科医学院的国家牙科和颅面研究所(NIDCR)多样性补充获得者。她的主要研究兴趣是包括口腔裂在内的头面部疾病的遗传和环境流行病学。Buxo博士的短期职业目标是扩大她关于颅面遗传学的知识，以了解口面部裂隙的复杂病因和亚临床表型特征，并发展她在颅面成像、分子技术、孕妇暴露评估和营养生物标志物分析方面的经验。她的长期职业目标是成为一名独立研究员，在一所领先的研究型大学担任终身教职，在颅面遗传流行病学和口腔健康领域获得成功的资金。她的研究计划是创新的，使用三维成像、分子遗传技术和母体生物标记物来调查波多黎各人口腔裂的遗传和环境病因，以了解拉美裔少数群体中的这些复杂特征。这项研究将使用通过目前与爱荷华大学和普遍定期审议共同资助的多样性补充计划收集的样本。这项拟议的研究有可能确定与波多黎各拉美裔口裂相关的候选基因和突变。它将提供关于该人群亚临床裂隙表型及其与先前基因组广泛关联研究(GWAS)中确定的显着多态的相关性的新信息。这项研究可以为深入了解口腔裂的生物学途径和母体营养生物标记物提供依据。那些已确定的与口腔裂风险相关的产妇营养生物标志物可能对波多黎各人等少数族裔今后预防口腔裂产生直接的临床影响。导师和顾问：何塞·科德罗博士将担任该奖项的主要导师。Cordero博士是UPR公共卫生学院资金充足的全职教授和院长，在研究出生缺陷和培养成功的研究生和博士后方面有35年的经验。杰弗里·默里博士已经担任Buxo博士的多样性补充口腔裂隙研究的导师两年了，他是一名颅面遗传学专家，并将继续以这一身份指导她。该项目的共同导师玛丽·马拉齐塔博士和顾问马尼卡·戈维尔博士将提供他们的临床和统计遗传学专业知识。罗纳德·芒格博士将担任产妇营养生物标志物分析的顾问。Lydia Lopez博士和George Wehby博士将担任外部顾问成员和顾问，为Buxo博士的职业发展和研究进展提供建议和评估，因为他们在母婴口腔健康、颅面流行病学、牙科和基因组分析方面具有互补的专业知识。环境：普遍定期审议医学学院是一所高等教育机构，在加勒比地区成功培养研究生和博士后，特别是临床和转化性研究方面享有盛誉。普遍定期审议及其校园提供广泛的继续教育和研究发展研讨会以及其他以职业发展为重点的研究方案。它通过其少数民族机构研究中心(RCMI)和由国家卫生研究院(NIH)支持的波多黎各临床和转化研究中心(PRCTRC)提供临床研究环境。职业发展计划：Buxo博士计划定期与她的导师、顾问和外部顾问成员会面，以实现她的职业和研究目标，通过参加相关的研讨会、课程、教程和会议来获得她的职业发展所需的知识。研究研究：这项研究的目的是通过鉴定遗传变异和遗传变异来了解遗传和环境因素对口腔裂隙的影响。 产妇营养生物标记物有助于波多黎各拉美裔口裂风险，并将研究结果与预防战略和公共卫生教育联系起来，以减轻这些疾病的负担。