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Genome Program in Human and Animal Health


  • Carlos Robello
  • Hugo Naya


In the recent years the substantial progress in sequencing capabilities is glimpsing a near future where genomics will play an increasingly important role in human and animal health. The enormous reduction in costs is due to the introduction of new highly performing technologies will allow a sudden change in the way we sees medical treatments nowadays. In this context the IPM has established the Genome Program in Human and Animal Health (GPHAH), with the goal of strengthen the human and technical capabilities of Uruguay in the shortest time possible, reducing the gap between industrialized nations and the third world. The objective of the present project is to develop local capacities for analysis of genomic sequences, both in basic research and support and scientific development of new products and technologies.

The GPHAH is focused in two major areas:

1- Human Genome Project

We will establish a human sequencing program in different populations of Uruguay, aiming at developing “genomic medicine” and establishing correlations between disease prevalence with genomic features.  In particular, the program will focus in strengthening human capacities and developing the basic infrastructure to support the analysis of complex data. To attain these objectives a scientific project is under current execution, involving a first phase of anthropological biology of African and Amerindian admixture in Uruguay, together with a second Medical Genomics phase related to hard diagnosis cases and rare diseases. The advantages of Uruguay of having a small rather admixed population of 3.28 million people, a universal health care system covering 90% of the entire population and booming intellectual capacities in genomics and bioinformatics will allow to reduce the risks of the present project.

2- Functional Genomics of host-pathogen interactions in human and animal health

The pathogens sequencing program, aim to develop deep and fast methods for monitoring of virulence, drug resistance, epidemiological vigilance and new typing methods for high throughput screening and characterization of pathogens. On the one hand, the existing collaborations between IPM and the Faculty of Medicine and the Ministry of Public Health will maximize efforts to impact in human health policies; and the existing collaborations with INIA and DILAVE will allow prioritizing problems of interest at the productive sector. Simultaneously RNA-seq of the host-pathogen interaction will help in the development of new strategies of treatment, diagnostics and prevention of infectious diseases.


The Institut Pasteur de Montevideo (IP Montevideo) has created two Technological Platforms in the year 2006 aiming at developing technologies, providing services and training personnel in the areas of experimental genomics and in bioinformatics analysis (Molecular Biology Unit and Bioinformatics Unit). Related to those platforms, the Microarray Technology (2008) and the Next Generation Sequencing Technology (2011) where introduced in Uruguay for the first time.


General Objective

Consolidation of the Genome Program in Human and Animal Health, in order to develop local capacities for analysis of genomic and transcriptomic data both in basic research and scientific development of new products and technologies. Consolidation of a network including the different institutions working in R+D, under the concept: “One Health, One World”.

Specific Objectives

1) Establish, through the Genome Program in Human and Animal Health of two flag projects: Uruguayan Human Genome-Sequencing Project, and a Functional Genomics of host-pathogen interactions in human and animal Project.

2) Creation of a multidisciplinary core working in genomics and functional genomics, with different points of view and expertise, as well as with experts coming from different institutions.

3) Establish an intensive program of training human resources, integrating the training offered locally with a large specific training program abroad.

4) Create and develop technological capabilities necessary to support a national program of genomics, both in regard to “hardware” and scientific equipment and in relation to “software”.

5) Promote the inter-institutional integration in the field of genomics.


“Human Genome Tour 2016”. March 14 – April 1, 2016. Institut Pasteur de Montevideo.

“Hands-on course on High-Throughput Sequencing data analysis”. December 1-14, 2014. Institut Pasteur de Montevideo. (InterAmerican Development Bank ATN/KK-14584-UR “Strengthening Technical and Human Capacities for Genomics Services Exports” INNOVA II Uruguay)

Generation of libraries for next generation sequencing” International Course (2012) UNU-Biolac

Functional Genomics in biomedicine: 1st Edition (2009). International Course. Institut Pasteur International Network

Functional Genomics in biomedicine: 2nd Edition (2011). International Course. Institut Pasteur International Network

Functional Genomics in biomedicine: 3rd Edition (2011). International Course. Institut Pasteur International Network


  1. – Lasserre M, Berná L, Greif G, Díaz-Viraqué F, Iraola G, Naya H, Castro-Ramos M, Juambeltz A, Robello C. Whole-Genome Sequences of Mycobacterium bovis Strain MbURU-001, Isolated from Fresh Bovine Infected Samples. Genome Announc. 2015 Nov 5;3(6).- Greif G, Rodriguez M, Reyna-Bello A, Robello C, Alvarez-Valin F. Kinetoplast adaptations in American strains from Trypanosoma vivax. Mutat Res. 2015 ;773:69-82.
    – Gutiérrez V, Rego N, Naya H, García G. First complete mitochondrial genome of the South American annual fish Austrolebias charrua (Cyprinodontiformes: Rivulidae): peculiar features among cyprinodontiforms mitogenomes. BMC Genomics. 2015 Oct 28;16(1):879  – Gianola D, de los Campos G, Toro MA, Naya H, Schön CC, Sorensen D. Do Molecular Markers Inform About Pleiotropy? Genetics. 2015 Sep;201(1):23-9.- Fernandez-Calero T, Garcia-Silva R, Pena A, Robello C, Persson H, Rovira C, Naya H, Cayota A. Profiling of small RNA cargo of extracellular vesicles shed by Trypanosoma cruzi reveals a specific extracellular signature. Mol Biochem Parasitol. 2015;199(1-2):19-28.- Berná L, Iraola G, Greif G, Coitinho C, Rivas CM, Naya H, Robello C. Whole-Genome Sequencing of an Isoniazid-Resistant Clinical Isolate of Mycobacterium tuberculosis Strain MtURU-002 from Uruguay. Genome Announc. 2014;2(4)- Chiribao ML, Libisch, G, Parodi‐Talice, A, Robello, C. Early Trypanosoma cruzi infection reprograms human epithelial cells., Biomed Res Int. 2014;2014:439501- Greif G, Ponce de Leon M, Lamolle G, Rodriguez M, Piñeyro D, Tavares-Marques LM, Reyna-Bello A, Robello C, Alvarez-Valin F. Transcriptome analysis of the bloodstream stage from the parasite Trypanosoma vivax. BMC Genomics. 2013 Mar 5;14:149.- Greif G, Iraola G, Berná L, Coitinho C, Rivas CM, Naya H, Robello C. Complete Genome Sequence of Mycobacterium tuberculosis Strain MtURU-001, Isolated from a Rapidly Progressing Outbreak in Uruguay. Genome Announc. 2014 Jan 23;2(1).- Iraola G, Pérez R, Naya H, Paolicchi F, Pastor E, Valenzuela S, Calleros L, Velilla A, Hernández M, Morsella C. Genomic evidence for the emergence and evolution of pathogenicity and niche preferences in the genus Campylobacter.Genome Biol Evol. 2014 Sep 4;6(9):2392-405. – Zych J, Spangenberg L, Stimamiglio MA, Abud AP, Shigunov P, Marchini FK, Kuligovski C, Cofré AR, Schittini AV, Aguiar AM, Senegaglia A, Brofman PR, Goldenberg S, Dallagiovanna B, Naya H, Correa A. Polysome profiling shows the identity of human adipose-derived stromal/stem cells in detail and clearly distinguishes them from dermal fibroblasts. Stem Cells Dev. 2014 Nov 15;23(22):2791-802 – Tosar JP, Rovira C, Naya H, Cayota A. Mining of public sequencing databases supports a non-dietary origin for putative foreign miRNAs: underestimated effects of contamination in NGS. RNA. 2014 Jun;20(6):754-7- Giorello FM, Berná L, Greif G, Camesasca L, Salzman V, Medina K, Robello C, Gaggero C, Aguilar PS, Carrau F. Genome Sequence of the Native Apiculate Wine Yeast Hanseniaspora vineae T02/19AF. Genome Announc. 2014 May 29;2(3).- Michelini FM, Zorrilla P, Robello C, Alché LE. Immunomodulatory activity of an anti-HSV-1 synthetic stigmastane analog. Bioorg Med Chem. 2013;21(2):560-8.- Peñagaricano F, Zorrilla P, Naya H, Robello C, Urioste JI. Gene expression analysis identifies new candidate genes associated with the development of black  skin spots in Corriedale sheep. J Appl Genet. 2012 Feb;53(1):99-106- Gascue C, Tan PL, Cardenas-Rodriguez M, Libisch G, Fernandez-Calero T, Liu YP, Astrada S, Robello C, Naya H, Katsanis N, Badano JL. Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation. J Cell Sci. 2012;125(Pt 2):362-75.

    – Sánchez AL, Urioste JI, Peñagaricano F, Neimaur K, Sienra I, Naya H, Kremer R.Genetic parameters of objectionable fibers and of their associations with fleece traits in Corriedale sheep. J Anim Sci. 2016 Jan;94(1):13-20.


– Pathogen and Host-Pathogen Genomics: Dr. Carlos Robello (

– Human Genomics: Dr. Hugo Naya (