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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.

The Center organizes a series of seminars and training workshops focused on pharmacogenomics, genetic diseases and molecular biology to further advance the expertise of our scientists, and to strengthen collaborations among basic and clinical scientists both locally and internationally.

The specific aims of the Center for Genomics in Health Disparities and Rare Diseases are:

  1. To develop a multidisciplinary collaborative research program that supports local, national and international scientists working in pharmacogenomics, human genomics and molecular biology by providing efficient and specialized core laboratory services, including technical support, consulting, training and DNA banking capabilities.
  2. To develop a structured training program in translational research by providing training activities and support for the development of young scientists as well as established basic and clinical researchers in pharmacogenomics, human genetics and genomics and molecular biology.
  3. To develop a Translational Genomics Network that stimulates new scientists, both clinical and basic, to become actively engaged in projects that employ pharmacogenomics, human genetics and genomics and molecular biology approaches in order to leverage on local and national resources such as the PRCTRC, and the RTRN.



Carmen L. Cadilla, Ph.D.
Director - Human Genetics
Telephone: (787) 758-2525
Ext. 1638, 1372

José R. Rodríguez-Medina, Ph.D.
Director - Molecular Biology
Telephone: (787) 758-2525
Ext. 1633, 2299


Department of Biochemistry, 6th Floor
Labs. A-621, A‐639
UPR Medical Sciences Campus


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    Contact us!
    Emma Fernández-Repollet,Ph.D.
    Principal Investigator
    RCMI Program
    Room B621-A, 6th floor
    Guillermo Arbona Building
    Medical Sciences Campus
    GPO Box 365067
    San Juan, PR 00936-5067
    Voice (787) 763-9401
    FAX (787) 758-5206