Genetic and Environmental Risks for Oral Clefts in Puerto Rican Hispanics

项目总结

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.