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.
Puerto Ricans are the second largest Hispanic minority group in US with a birth prevalence of oral clefts that is higher than those reported in most populations at 15.9 per 10,000. The focus of this study will be to use samples from an admixed population of Puerto Ricans collected in the candidate's Diversity Supplement and increase its sample size as a model to examine the genetic variation, sub-clinical phenotypes, and maternal nutritional biomarkers in oral cleft risk in Hispanic populations. This research may impact the prevention of oral clefts in Puerto Rican children and has the potential to identify genetic and phenotypic variants, and maternal nutritional biomarkers such as those associated with folate and vitamin deficiencies during pregnancy.
|Shaffer, John R; LeClair, Jessica; Carlson, Jenna C et al. (2018) Association of low-frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts. Am J Med Genet A :|
|Carlson, Jenna C; Nidey, Nichole L; Butali, Azeez et al. (2018) Genome-wide interaction studies identify sex-specific risk alleles for nonsyndromic orofacial clefts. Genet Epidemiol 42:664-672|
|Chernus, Jonathan; Roosenboom, Jasmien; Ford, Matthew et al. (2018) GWAS reveals loci associated with velopharyngeal dysfunction. Sci Rep 8:8470|
|Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R et al. (2017) Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. Hum Genet 136:275-286|
|Carlson, Jenna C; Standley, Jennifer; Petrin, Aline et al. (2017) Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes. Genet Epidemiol 41:887-897|
|Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R et al. (2017) Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate. Am J Med Genet A 173:1531-1538|
|Gowans, L J J; Adeyemo, W L; Eshete, M et al. (2016) Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations. J Dent Res 95:1245-56|
|Leslie, Elizabeth J; Liu, Huan; Carlson, Jenna C et al. (2016) A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. Am J Hum Genet 98:744-54|
|Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R et al. (2016) A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13. Hum Mol Genet 25:2862-2872|