Genetic and Environmental Risks for Oral Clefts in Puerto Rican Hispanics

项目总结 候选人：卡门·布克索博士是波多黎各大学终身教职助理教授 牙科医学院。她的职业目标是进行颅面和遗传流行病学的研究。 在多民族人群中，口腔裂隙的发病率。该研究计划使用3D成像、分子遗传学技术和 母体生物标记物用于研究波多黎各人口裂的遗传和环境病因 了解西班牙裔人口中的这些复杂特征。这项研究有可能确定相关的 与口腔裂隙相关的候选基因和变异。这将为亚临床唇裂提供新的信息。 这一群体的表型及其与先前GWAs中确定的显著多态的相关性。 顾问：顾问将继续担任颅面遗传学、口腔裂表型方面的专家 波多黎各不同人口、出生缺陷和早产、遗传学分析和母婴 营养生物标记物。环境：普遍定期审议是一所享有盛誉的高等教育机构 在加勒比地区成功地培训研究生和博士后，特别是临床和博士后 翻译研究。职业发展计划：Buxo博士计划定期与顾问会面 通过继续参加相关研讨会，实现她的职业和研究目标。研究报告： 这项R00研究的目的是了解口腔裂的遗传和环境病因学。 确定遗传变异和母体营养生物标志物的遗传混合群体 促进波多黎各拉美裔口裂风险，并将研究结果与预防策略和公众联系起来 健康教育以减轻这些疾病的负担。R00将继续招聘AIMS 1-2，开始AIM 3、收集用于基因分型/测序的样本、母体营养生物标志物的血液、表型数据、 产妇问卷，分析样本和产妇暴露情况。行政副刊：COVID- 19紧急情况影响了该岛的健康、获得护理的机会和经济。我们收到了一份行政命令 从飓风伊尔玛和玛丽亚对新设施基础设施的影响中恢复 可用于R00‘S研究的实施和完成。目前，我们仍在使用现有的 空间，这降低了充分完成R00活动的能力，特别是在新冠肺炎期间 紧急情况；限制工作能力以确保物理距离。新冠肺炎的封锁导致了 以前行政部门要求的改建和翻新(A&R)过程的延误 副刊。本补编的目的是为先前提出的受影响的A&R提供保险 由于目前新冠肺炎紧急情况。这一新的行政副刊将使我们的机构能够完成 A&R流程，用于完成提议的设施和R00活动。

PROJECT SUMMARY Candidate: Dr. Carmen Buxo is a tenure-track Assistant Professor at the University of Puerto Rico (UPR) School of Dental Medicine. Her career goals are to perform research in craniofacial and genetic epidemiology of oral clefts in multiethnic populations. The research plan uses 3D 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 population. The study has the potential of identifying relevant candidate genes and variants associated with oral clefts. It will provide new information on the sub-clinical cleft phenotypes of this population and its correlation with significant polymorphisms identified in previous GWAS. Consultants: Consultants will continue to serve as experts in craniofacial genetics, oral clefts phenotypes of different populations, birth defects and preterm birth in Puerto Ricans, analyses of genetics, and maternal nutritional biomarkers. Environment: The UPR 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. Career Development Plan: Dr. Buxo plans to meet periodically with consultants for the achievement of her career and research goals by continuing to attend to relevant seminars. Research Study: The purpose of this R00 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. R00 will continue recruitment of Aims 1-2, start Aim 3, collect samples for genotyping/sequencing, blood for maternal nutritional biomarkers, phenotype data, maternal questionnaires, analyze samples and maternal exposures. Administrative Supplement: The COVID- 19 emergency has affected the island’s health, access to care and economy. We received an administrative supplement to recover from the impact of Hurricanes Irma and Maria to the infrastructure of new facilities available for the R00’s study implementation and completion. Currently, we are still working in our existing space, which reduces the capability to complete R00 activities adequately, especially during COVID-19 emergency; limiting the working capacity to ensure physical distancing. The COVID-19 lockdown has caused delays to the processes for the alterations and renovations (A & R) requested in previous administrative supplement. The objective of this supplement is to cover for the A&R proposed previously that were affected due to current COVID-19 emergency. This new administrative supplement will allow our Institution to finish the A&R processes for the completion of proposed facilities and R00 activities.