# Genetic and Environmental Risks for Oral Clefts in Puerto Rican Hispanics

> **NIH NIH R00** · UNIVERSITY OF PUERTO RICO MED SCIENCES · 2021 · $75,000

## Abstract

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 act...

## Key facts

- **NIH application ID:** 10439017
- **Project number:** 3R00DE024571-05S1
- **Recipient organization:** UNIVERSITY OF PUERTO RICO MED SCIENCES
- **Principal Investigator:** Carmen J. Buxo
- **Activity code:** R00 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $75,000
- **Award type:** 3
- **Project period:** 2021-08-01 → 2023-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10439017

## Citation

> US National Institutes of Health, RePORTER application 10439017, Genetic and Environmental Risks for Oral Clefts in Puerto Rican Hispanics (3R00DE024571-05S1). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10439017. Licensed CC0.

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