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Physiogenomic Analysis of the Puerto Rican Population

A study of general interest with regards to genetic variation and personalized medicine, conducted by investigators at the University of Puerto Rico, Medical Sciences Campus (UPR-MSC) and Genomas Inc., was recently published by the Journal of Pharmacogenomics. The article, titled Physiogenomic Analysis of the Puerto Rican Population by Dr. Gualberto Ruaño and his collaborators, reports research aimed at determining the frequencies of single-nucleotide polymorphysyms (SNP) in key physiological, pharmacological and biochemical genes to infer population structure and ancestry in the Puerto Rican population.

Dr. Gualberto Ruaño, profesor de la UPR-RCM, y presidente de Genomas, Inc
Dr. Gualberto Ruaño, profesor de la UPR-RCM, y presidente de Genomas, Inc

Genomic DNA samples from 100 newborns were obtained from the Puerto Rico Newborn Screening Program. The Puerto Rican sample was found to be broadly heterogeneous. Three main clusters were observed in the island’s population, which may reflect historical admixture from Amerindian, African and European ancestors. Evidence for those interpretations was presented by comparing results with data from the International HapMap project1 for Asian, African and European populations. The study, first of its kind in Puerto Rico provided valuable information which could improve precision in prescribing medications and reduce healthcare industry costs, while increasing the overall quality of patient care and eliminating the trial and error method.

Dr. Gualberto Ruaño professor at UPR-MSC, President and CEO of biomedical Company Genomas, is the Principal Investigator of this research effort, which is the result of a partnership between Genomas Inc, the Puerto Rico Development Bank, UPR-MSC and PRIDCO. At this initial phase the research under the leadership of Dr. Ruaño, is focused in the use of personalized medication to treat such conditions as cardiovascular disease, diabetes and eventually mental illness.

Coauthors of the publication are Gualberto Ruaño, Andreas Windemuth, Mohan Kocherla, and David Villagra from Genomas, Inc; Jorge Duconge from the UPR Medical Sciences Campus School of Pharmacy; Carmen L Cadilla, Jessica Renta and Pedro J Santiago-Borrero from the UPR Medical Sciences Campus School of Medicine, and Theodore Holford, from Yale School of Medicine

More information regarding this research is available at:

1 The International HapMap Project is a partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to develop a public resource that will help researchers find genes associated with human disease and response to pharmaceuticals.

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