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RCMI Center for Genomics in Health Disparities and Rare Diseases


The long-term goal of the Center for Genomics in Health Disparities and Rare Diseases (CGHDRD) is to provide the critical environment that will enable high quality translational and biomedical research in pharmacogenomics, human genetics and genomics, molecular biology. We aim to develop and strengthen a collaborative research environment by providing research infrastructure that supports the focal areas of research at the University of Puerto Rico Medical Sciences Campus (UPR-MSC), which encompass common diseases such as cancer, neurological and cardiovascular disorders as well as rare disorders, by improving the human and physical resources. The Center focuses these initiatives on externally funded, interdisciplinary, collaborative projects which enhance the quality of translational, biomedical and clinical research at the Medical Sciences Campus linked to health disparities and rare disorders in Puerto Rico and nationally. Collaborations with researchers at institutions outside of Puerto Rico or other RCMI institutions, as well as other academic units in the island and in the UPR system are encouraged.

The Center provides the necessary expertise to apply high throughput genotyping, expression profiling and sequencing technologies at the UPR-MSC. Specialized technical staff trains researchers at different levels of their scientific careers in supported technologies. Novel DNA and RNA isolation methodologies are applied to a diverse group of organisms and biological samples for nucleic acids sequence analysis in general.




  • ABI StepOnePlus real-time PCR system ( Real-time PCR machine )

    Upgraded to 96-well model Room A-624, RISE program. "The StepOne™ Real-Time PCR System is a 48-well, low-throughput, Real-Time PCR instrument perfect for both first-time and experienced users. The StepOne™ Real-Time PCR System can be setup in a variety of configurations and comes ready to use, out of the box, with intuitive data analysis and instrument control software. Utilizing robust LED based 3-color optical recording, the StepOne™ Real-Time PCR System is designed to deliver precise, quantitative Real-Time PCR results for a variety of genomic research applications."

  • Affymetrix GeneChip Fluidics Station 450 ( Fluidics station )

    "The GeneChip® Fluidics Station 450 is used for the wash and stain operation of Affymetrix GeneChip® arrays. The instrument includes design advancements to provide improved ease of use and true walk-away freedom dramatically improving efficiency in your genetic analysis."

  • Affymetrix GeneChip Hybridization Oven 640 ( Hybridization oven )

    "The GeneChip® Hybridization Oven 640 automates your hybridization process for GeneChip brand probe arrays. The oven provides precise temperature control to ensure successful hybridization, and cartridge rotation to provide continuous mixing. Up to 64 arrays can be processed at one time. The digital speed control display provides you with the option of selecting specific rotation speeds and to visually monitor the speed during the cycle."

  • Affymetrix GeneChip Scanner 3000 7G ( Gene chip scanner )

    "The GeneChip® Scanner 3000 7G is an extension of the GeneChip® Scanner 3000 (GCS 3000) series that allows you to scan next-generation higher-density arrays, including SNP arrays with up to 900,000 SNPs, tiling arrays for transcription and all-exon arrays for whole-genome analysis.

    The GCS 3000 7G combines space-saving and other design improvements with speed, superior performance and lower scanner-to-scanner variation to dramatically improve throughput and efficiency in your genetic analysis. The GCS 3000 7G also provides enhanced auto-focus and more consistent scanner-to-scanner biological performance to improve data integrity and data sharing between researchers."

  • Agilent Bioanalyzer 2100 ( Microfluidics platform )

    "The Agilent 2100 Bioanalyzer is a microfluidics-based platform for sizing, quantification and quality control of DNA, RNA, proteins and cells on a single platform. Results are delivered within 30-40 minutes in automated, high quality digital data."

  • Applied Biosystems Veriti 96 well thermal cycler ( Thermal cycler )

  • Bio Rad Mini MJ cycler ( Thermal cycler )

  • DHPLC mutagenesis analyzer ( Denaturing high-performance liquid chromatography instrument )

    DHPLC instrument with the Transgenomic patented separation DNASep® Cartridges for mutation detection.

  • Eppendorf AG 5810R centrifuge ( Centrifuge )

  • Eppendorf AG epMotion 5070 pipetting system ( Electronic repeater pipette )

    Room A-624, RISE program

  • Forma Scientific 1100 laminar flow hood ( Laminar flow hood )

  • Ion Proton System ( DNA sequencer )

    "The Ion Proton™ System offers a complete workflow from sample through analysis, and variant calling or RNA analysis. It is used with the Ion Chef™ System to enable automated, high-throughput template preparation and reproducible chip loading for users of any experience level."

  • Lab Net International Hybridization oven ( Hybridization oven )

  • Liquid nitrogen cell storage tank ( Cell storage device )

    2 Liquid nitrogen cell storage tanks

  • Market Forge Sterilmatic Autoclave ( Autoclave )

  • MJ thermal cycler PTC-100 ( Thermal cycler )

    The facility counts with two thermal cyclers.

  • Mouse pod animal imaging chamber ( Small-animal image acquisition device )

    Room A-624, RISE program.

  • New Brunswick Scientific BioFlo 110 fermentor & bioreactor ( Fermentor )

  • NuAire Biological hood ( Biological safety cabinet )

  • NuAire US AutoFlow cell incubator ( Incubator )

  • Odyssey imaging system ( Gel imaging system )

    Room A-624, RISE program.

  • Perkin Elmer LS55 Fluorescence spectrometer ( Fluorescence spectrometer )

    Room A-624, RISE program

  • Pipetting system ( Electronic repeater pipette )

  • QIAGEN Qiacube DNA purification instrument ( DNA extraction/purification instrument )

  • Savant speed vac ( Vacuum centrifuge concentrator )

  • Shaking incubator ( Incubator shaker )

  • Shaking incubator ( Incubator shaker )

  • Transgenomic WAVE DHPLC mutagenesis machine ( Denaturing high-performance liquid chromatography instrument )



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Last updated: 2017-04-13T06:37:39.907-05:00

Copyright © 2016 by the President and Fellows of Harvard College
The eagle-i Consortium is supported by NIH Grant #5U24RR029825-02 / Copyright 2016