Genomics Translational Services
Genomics Translational Services
The Genomics Services (GS) unit of the Center for Collaborative Research in Health Disparities (CCRHD), consists of two units: the Human Genetics and Genomics Core lab, led by Carmen L. Cadilla, Ph.D. and the Molecular Biology Core lab, led by José Rodríguez-Medina, Ph.D. Instrumentation to perform molecular genetics and genomics methods has been provided by the RCMI Program. Importantly, additional resources have been acquired through collaborations and partnerships with the Puerto Rico Science and Technology Trust (PRSTT); the Puerto Rico Clinical and Translational Research Consortium (PRCTRC) (U54MD007587-NIMHD, and the Puerto Rico IDeA Network of Biomedical Research Excellence (PR-INBRE P20GM103475-NIGMS). This consortium is known as the RCMI/PRCTRC/INBRE Genomics Translational Research Unit (GTRU).
The GTRU supports projects that contribute to the understanding of genetic disorders affecting individuals of Puerto Rican ancestry, by applying genomic technologies in the study of human diseases and therapy. The GTRU provides a range of services and expertise, including Next-Generation sequencing technologies, with Ion Proton and Ion Torrent instruments; Affymetrix microarray applications; real-time qPCR for expression analysis and Taqman Genotyping assays. Recently, the Puerto Rico IDeA Network of Biomedical Research Excellence (PRINBRE) Program approved funds to acquire a QuantStudio 6 Real Time PCR system and an Illumina iScan System, which supports high-throughput genotyping to DNA methylation analysis. The GTRU technician, Jessica Renta, is supported by RCMI funds. Dr. Cadilla serves as the Genomics Services (GS) Lead.
The Genomics Services Unit provides support to two of the CCRHD Research Projects: Upstream Regulation and Downstream effectors of c-MYC in ovarian cancer (PI: Pablo E.Vivas-Mejía), and Adopting a precision medicine paradigm in Caribbean Hispanics of Puerto Rico: measuring the utility of genomic medicine in thromboembolic disorders (PI: Jorge Duconge-Soler). Genomics services are also provided to the following projects: “Pharmacogenetic determinants of opioid addiction maintenance treatment with buprenorphine in a Caribbean Hispanic Population” (SC2DA052099, PI: Dr. Kyle Melin); “Polymorphism in neuroplasticity-related genes and its association with anxiety and depressive symptoms severity in Caribbean Hispanic patients” (P20 GM103642 pilot project PI: Dr. Bianca Torres); “Mechanisms of TWIST bHLH Transcription Factors Binding to Functional Target Regions” (SC1GM139706, PI: Dr. Carmen L. Cadilla); “Association of Gut Microbiota with Alzheimer Disease in Puerto Ricans” (Supplement to U54GM133807, PIs: Drs. Vanessa Sepulveda and Filipa Godoy); “Genetics of Diabetic Nefropathy” (PR INBRE Grant P20GM103475, PI: Dr. Juan C. Martínez Cruzado); “Host genetic susceptibility to gut microbiota-driven colorectal carcinogenesis” (K22CA226395, PI: Dr. Maria del Mar Gonzalez Pons)
Overall Goal of Genomics Translational Research
It is to function in a synergistic way to maximize the quality and productivity of the research projects proposed and the pilot projects funded, as well as link RCMI faculty and scholars with other researchers at the institution.
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Jessica Y. Renta-Torres, M.S.
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Lilliam Villanueva, M.S.
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