Genomics Services

The Genomics Services (GS) unit of the Center for Collaborative Research in Health Disparities (CCRHD), consists of two units: the Molecular Biology Core lab, led by José Rodríguez-Medina, PhD, and the Human Genetics Core lab, led by Carmen L. Cadilla, PhD. Original instrumentation to perform molecular genetics methods, and to provide custom synthesis of molecular biology reagents such as oligonucleotides and peptides was provided by the RCMI Program. However, additional resources have since 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 (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. The GTRU technician, Jessica Renta, is supported by RCMI funds. Dr. Cadilla serves as the Genomics Services (GS) Lead.

 

The General 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: Neuroprotection of the cembranoid 4R compound against stroke (subproject: U54NS083924); Center for Neuroplasticity at the University of Puerto Rico (P20GM10364); PKMZeta involvement in cocaine sensitization (SC1GM084854); Prefrontal-amygdala interactions in fear conditioning (R37MH058883); Neuro-circuitry of OCD (subproject: Cingulate/prelimbic nodes mediating persistent avoidance, P50MH106435); Targeting monocyte/macrophage cathepsin B in HIV1 neurocognitive disorders (SC1GM113691), and Mitochondrial permeability transition as a target for cardioprotection in the heart (SC1HL118669).

 

 

Jessica Y. Renta-Torres

Human Genetics Lab
E-mail: jessicca.renta@upr.edu