Genetic and Environmental Risks for Oral Clefts in Puerto Rican Hispanics

描述（由申请人提供）：卡门Buxo博士是一个非终身助理教授，是牙科和颅面研究（NIDCR）的国家研究所多样性补充剂在波多黎各（UPR）牙科医学院的大学。她的主要研究兴趣是颅面疾病的遗传和环境流行病学，包括口裂。Buxo博士的短期职业目标是扩大她对颅面遗传学的了解，以了解口面裂的复杂病因学和亚临床表型特征，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调查员，在颅面遗传流行病学和口腔健康领域获得成功的资助，成为一所领先的研究型大学的终身教职。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志物来调查波多黎各人口裂的遗传和环境病因，以了解西班牙裔少数民族人口中这些复杂的特征。这项研究将使用通过目前资助的多样性补充与爱荷华州大学和普遍定期审议收集的样本。这项拟议的研究有可能确定与波多黎各西班牙裔人口腔裂相关的相关候选基因和突变。它将提供关于该人群亚临床裂缝表型及其与先前全基因组关联研究（GWAS）中鉴定的显著多态性的相关性的新信息。这项研究可以提供深入了解这些生物学途径和母亲的营养生物标志物参与口裂。这些母亲的营养生物标志物确定和相关的口裂的风险可能有一个直接的临床影响，在未来的预防口裂的少数民族，如波多黎各人。导师和顾问：Jose Cordero博士将担任该奖项的主要导师。Cordero博士是一位资金充足的全职教授，也是UPR公共卫生学院的院长，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。杰弗里·默里博士两年来一直是Buxo博士多样性补充口腔裂研究的导师，他是一位颅面遗传学专家，并将继续以这种身份指导她。玛丽Marazita博士，共同导师，和Manika Govil博士，顾问，对拟议的项目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。莉迪亚洛佩斯和乔治韦比博士将作为外部咨询成员和顾问提供建议和评估博士Buxo的职业发展和研究进展，因为他们在孕产妇和婴儿口腔健康，颅面流行病学，牙科和基因组分析互补的专业知识。工作环境：普遍定期审议医学科学校园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学生方面享有盛誉，特别是在临床和转化研究方面。普遍定期审议及其校园提供广泛的继续教育和研究开发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）和美国国立卫生研究院（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，顾问和外部咨询成员会面，以实现她的职业和研究目标，通过参加相关研讨会，课程，教程和会议/会议来获得她职业发展所需的知识。研究报告：本研究的目的是通过识别遗传变异和遗传环境，了解混合人群中唇腭裂的遗传和环境病因。 母亲的营养生物标志物有助于口唇腭裂的风险在波多黎各西班牙裔和相关的研究结果，以预防战略和公共卫生教育，以减少这些疾病的负担。

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.