Genetic and Environmental Risks for Oral Clefts in Puerto Rican Hispanics

描述（由申请人提供）：Carmen Buxo博士是一名非终身助理教授，也是波多黎各大学（UPR）牙科医学院国家牙科和颅面研究所（NIDCR）多样性补充接受者。她的主要研究兴趣是包括唇裂在内的颅面疾病的遗传和环境流行病学。Buxo博士的短期职业目标是扩展她在颅面遗传学方面的知识，以了解复杂的病因学和颅面裂的亚临床表型特征，并发展她在颅面成像、分子技术、母体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的研究者，在颅面遗传流行病学和口腔健康领域获得成功的资助，并在一所领先的研究型大学担任终身教职。她的研究计划是创新的，利用三维成像、分子遗传技术和母亲生物标志物来研究波多黎各人口腔唇裂的遗传和环境病因，以了解西班牙裔少数民族人口的这些复杂特征。本研究将使用通过爱荷华大学和普遍定期审议目前资助的多样性补充收集的样本。提出的研究有可能确定与波多黎各西班牙裔口腔唇裂相关的相关候选基因和突变。这将为该人群的亚临床裂表型及其与先前全基因组关联研究（GWAS）中发现的显著多态性的相关性提供新的信息。本研究为了解唇腭裂的生物学途径和母体营养生物标志物提供了新的思路。那些与唇裂风险相关的母体营养生物标志物可能对波多黎各等少数民族今后预防唇裂有直接的临床影响。导师和顾问：Jose Cordero博士将担任该奖项的主要导师。Cordero博士是一名资金充足的正教授和普遍定期审查公共卫生学院院长，在研究出生缺陷和培养成功的研究生和博士后学生方面拥有35年的经验。Jeffrey Murray博士担任Buxo博士的Diversity Supplement oral clefts研究两年的导师，是颅面遗传学专家，并将继续以这种身份指导她。该项目的共同导师Mary Marazita博士和顾问Manika Govil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顾问。Drs。Lydia Lopez和George Wehby将担任外部咨询成员和顾问，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：普遍定期审议医学院校区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，特别是在临床和转化研究方面享有盛誉。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，以及其他专注于职业发展的研究项目。它通过其少数民族机构研究中心（RCMI）和波多黎各临床和转化研究中心（PRCTRC）提供临床研究环境，这些研究中心由美国国立卫生研究院（NIH）支持。职业发展计划：Dr. Buxo计划定期与她的导师、顾问和外部顾问成员会面，通过参加相关的研讨会、课程、辅导和会议来实现她的职业和研究目标，以获得职业发展所需的知识。研究研究：本研究的目的是通过识别遗传变异和遗传变异，了解遗传混合人群中唇裂的遗传和环境病因

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.