{"id":292,"date":"2021-03-18T12:40:01","date_gmt":"2021-03-18T12:40:01","guid":{"rendered":"http:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/?page_id=292"},"modified":"2021-03-18T12:40:01","modified_gmt":"2021-03-18T12:40:01","slug":"genetic-variation-and-disease","status":"publish","type":"page","link":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/genetic-variation-and-disease\/","title":{"rendered":"Genetic variation and disease"},"content":{"rendered":"

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Genetic variation and disease<\/h1>\n<\/div>\n
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PRINCIPAL INVESTIGATOR<\/h4>\n\n\n\n
<\/td>\nCarlos Flores Infante, PhD<\/strong><\/p>\n

Contracted Investigator SCS\/FIISC, Research Unit HUNSC and Genomic Unit of the Technological and Renewable Energies Institute<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

POSTDOCTORAL RESEARCHERS:<\/h4>\n
    \n
  • Itahisa Marcelino Rodr\u00edguez, PhD (Postdoctoral investigator, SCS\/FIISC, Research Unit HUNSC)<\/li>\n
  • Laura Ciuffreda, PhD (Postdoctoral investigator, SCS\/FIISC, Research Unit HUNSC)<\/li>\n<\/ul>\n

    EXTERNAL POSTDOCTORAL COLLABORATORS:<\/h4>\n
      \n
    • Rafaela Gonz\u00e1lez Montelongo, PhD (Junior Researcher, Genomics Division of the Technological and Renewable Energies Institute)<\/li>\n
    • V\u00edctor Garc\u00eda Olivares, PhD (Postdoctoral Researcher, Genomics Division of the Technological and Renewable Energies Institute)<\/li>\n<\/ul>\n

      PHD STUDENTS AND TRAINEES:<\/h4>\n
        \n
      • Beatriz Guill\u00e9n Gu\u00edo (The Canary Islands Agency of Research, Innovation and Information Sciences, ACIISI, The Canary Islands Government, TESIS2015010057, 2016-2019)<\/li>\n
      • Natalia Hern\u00e1ndez Pacheco (PFIS FI16\/00136, ISCIII, 2017-2020)<\/li>\n
      • Ana D\u00edaz de Usera (FPU 16\/01435, Ministry of Education, Culture and Sport, 2017-2020)<\/li>\n
      • Tamara Hern\u00e1ndez Beeftink (PFIS FI17\/00177, ISCIII, 2018-2021)<\/li>\n
      • H\u00e9ctor Rodr\u00edguez P\u00e9rez (PFIS FI18\/00230, ISCIII, 2019-2022)<\/li>\n
      • Alejandro Mendoza \u00c1lvarez (CajaSiete ULL, 2018-2021)<\/li>\n
      • Adri\u00e1n Mu\u00f1oz Barrera (Massive Genomics Data Analysis Service, CGIEU0000219140. Regional Goverment of Tenerife, Genomics Division of the Technological and Renewable Energies Institute)<\/li>\n
      • Luis Alberto Rubio Rodr\u00edguez (Massive Genomics Data Analysis Service, CGIEU0000219140. Regional Goverment of Tenerife, Genomics Division of the Technological and Renewable Energies Institute)<\/li>\n
      • David J\u00e1spez Toledo (UDIGEN project, Spanish Ministry of Science, Innovation and Universities, RTC-2017-6471-1)<\/li>\n
      • Jos\u00e9 M. Lorenzo-Salazar (Area coordinator, Genomics Division of the Technological and Renewable Energies Institute)<\/li>\n<\/ul>\n

        TECHNICAL AND ADMINISTRATIVE STAFF:<\/h4>\n
          \n
        • Almudena Corrales Moreno (Technician, SCS\/FIISC, Research Unit HUNSC)<\/li>\n
        • Antonio \u00cd\u00f1igo Campos (Technician, Genomics Division of the Technological and Renewable Energies Institute)<\/li>\n<\/ul>\n

          RESEARCH LINES:<\/h4>\n
            \n
          • Genetics underlying the development and progression of prevalent (allergies, respiratory, infectious, immunological, etc.) and non-prevalent (mainly respiratory and immunological) diseases (\u201cGen\u00e9tica involucrada en el desarrollo y progresi\u00f3n de enfermedades prevalentes (al\u00e9rgicas, respiratorias, infecciosas, inmunol\u00f3gicas, etc.) y no prevalentes (principalmente respiratorias e inmunol\u00f3gicas\u201d).<\/li>\n
          • Population dynamics, evolution and disease in The Canary Islands (\u201cDin\u00e1mica poblacional, evoluci\u00f3n y enfermedad en Canarias\u201d).<\/li>\n
          • Biomarkers of prognosis in critically ill patients (methylome, transcriptome, microbiome, etc.) (\u201cBiomarcadores de pron\u00f3stico en enfermos cr\u00edticos (metiloma, transcriptoma, microbioma, etc.).<\/li>\n
          • Clinical sequencing: development of bioinformatics tools and applications based on massive sequencing (\u201cSecuenciaci\u00f3n cl\u00ednica, Desarrollo de herramientas bioinform\u00e1ticas y aplicaciones basadas en secuenciaci\u00f3n masiva\u201d).<\/li>\n<\/ul>\n

            FUNDED PROJECTS:<\/h4>\n
              \n
            • Generation of a Genomic Diagnostic Unit (UDIGEN, RTC-2017-6471-1 \u2013 \u201cDesarrollo de una Unidad de Diagn\u00f3stico Gen\u00f3mico\u201d). PI: Carlos Flores. Ministry of Science, Innovation and Universities (2018-2021, 904,828.99 \u20ac).<\/li>\n
            • Multiomics identification of genetic predictors of survival in sepsis patients (PI17\/00610 \u2013 \u201cMulti\u00f3mica para la identificaci\u00f3n de predictores gen\u00e9ticos de supervivencia en pacientes con sepsis\u201d). PI: Carlos Flores. Institute of Health Carlos III (2018-2020, 99,220 \u20ac).<\/li>\n
            • Pulmonary dysbiosis and early prognosis in patients with sepsis: towards a real- time assessment (PIFUN48\/18). PI: Carlos Flores. The Canary Islands Health Research Institute Foundation (2019-2020, 21,863.50 \u20ac).<\/li>\n
            • Genomic ancestry in human populations of the Canary Islands: African mixture, adaptation to the environment and health implications (2018PATRI20 – \u201cAscendencia gen\u00f3mica en las poblaciones humanas de Canarias: mezcla africana, adaptaci\u00f3n al ambiente e implicaciones en salud\u201d). PI: Carlos Flores. CajaCanarias Foundation (2019-2022, 29,475 \u20ac).<\/li>\n
            • Facility for the Massive Analysis of Genomic Data (Tenerife Council, CGIEU0000219140). Contract: 2,700,000 \u20ac (2018-2022). PI: Carlos Flores Infante.<\/li>\n<\/ul>\n

              PUBLICATIONS 2019:<\/h4>\n
                \n
              • Hernandez-Pacheco N, Farzan N, Francis B, Karimi L, Repnik K, Vijverberg SJ, Soares P, Schieck M, Gorenjak M, Forno E, Eng C, Oh SS, P\u00e9rez-M\u00e9ndez L, Berce V, Tavendale R, Samedy LA, Hunstman S, Hu D, Meade K, Farber HJ, Avila PC, Serebrisky D, Thyne SM, Brigino-Buenaventura E, Rodriguez-Cintron W, Sen S, Kumar R, Lenoir M, Rodriguez-Santana JR, Celed\u00f3n JC, Mukhopadhyay S, Poto\u010dnik U, Pirmohamed M, Verhamme KM, Kabesch M, Palmer CNA, Hawcutt DB, Flores C, Maitland-van der Zee AH, Burchard EG, Pino-Yanes M. Genome-wide association study of inhaled corticosteroid response in admixed children with asthma. Clin Exp Allergy. 2019 Jun;49(6):789-798. doi: 10.1111\/cea.13354<\/li>\n
              • Hernandez-Pacheco N, Pino-Yanes M, Flores C. Genomic Predictors of Asthma Phenotypes and Treatment Response. Front Pediatr. 2019 Feb 5;7:6. doi: 10.3389\/fped.2019.00006<\/li>\n
              • Herrera-Luis E, Hernandez-Pacheco N, Vijverberg SJ, Flores C, Pino-Yanes M. Role of genomics in asthma exacerbations. 2019 Current Opinion in pulmonary Medicine 25(1), pp. 101-112. doi: 10.1097\/MCP.0000000000000533<\/li>\n
              • Rodr\u00edguez-P\u00e9rez H, Hern\u00e1ndez-Beeftink, Lorenzo-Salazar JM, Roda-Garc\u00eda JL, P\u00e9rez-Gonz\u00e1lez CJ, Colebrook M, Flores C. NanoDJ: a Dockerized Jupyter notebook for interactive Oxford Nanopore MinION sequence manipulation and genome assembly. BMC Bioinformatics. 2019 May 9;20(1):234. doi: 10.1186\/s12859-019-2860-z<\/li>\n
              • Perkins JR, Acosta-Herrera M, Plaza-Ser\u00f3n MC, Jurado-Escobar R, Do\u00f1a I, Garc\u00eda-Mart\u00edn E, Isidoro-Garc\u00eda M, Bartra J, Ribas-Perez D, Mayorga C, Torres MJ, Flores C, Cornejo-Garc\u00eda JA. Polymorphisms in CEP68 gene associated with risk of immediate selective reactions to non-steroidal anti-inflammatory drugs. Pharmacogenomics J. 2019 Apr;19(2):191-199. doi: 10.1038\/s41397-018-0038-0<\/li>\n
              • Fregel R, Ord\u00f3\u00f1ez AC, Santana-Cabrera J, Cabrera VM, Velasco-V\u00e1zquez J, Alberto V, Moreno-Ben\u00edtez MA, Delgado-Darias T, Rodr\u00edguez-Rodr\u00edguez A, Hern\u00e1ndez JC, Pais J, Gonz\u00e1lez-Montelongo R, Lorenzo-Salazar JM, Flores C, Cruz-de-Mercadal MC, \u00c1lvarez-Rodr\u00edguez N, Shapiro B, Arnay M, Bustamante CD. Mitogenomes illuminate the origin and migration patterns of the indigenous people of the Canary Islands. PLoS One. 2019 Mar 20;14(3):e0209125. doi: 10.1371\/journal.pone.0209125<\/li>\n
              • Mendoza-Alvarez A, Guillen-Guio B, Baez-Ortega A, Hernandez-Perez C, Lakhwani-Lakhwani S, Maeso MD, Lorenzo-Salazar JM, Morales M, Flores C. Whole-Exome Sequencing Identifies Somatic Mutations Associated With Mortality in Metastatic Clear Cell Kidney Carcinoma. Front Genet. 2019 May 15;10:439. doi: 10.3389\/fgene.2019.00439<\/li>\n
              • Espuela-Ortiz A, Lorenzo-Diaz F, Baez-Ortega A, Eng C, Hernandez-Pacheco N, Oh SS, Lenoir M, Burchard EG, Flores C, Pino-Yanes M. Bacterial salivary microbiome associates with asthma among african american children and young adults. Pediatr Pulmonol. 2019 Dec;54(12):1948-1956. doi: 10.1002\/ppul.24504<\/li>\n
              • Hern\u00e1ndez-Beeftink T,Guillen-Guio B,Villar J,Flores C. Genomics and the acute respiratory distress syndrome: Current and future directions. Int J Mol Sci. 2019 Aug 16;20(16). pii: E4004. doi: 10.3390\/ijms20164004<\/li>\n
              • Marcelino-Rodriguez I,Callero A,Mendoza-Alvarez A,Perez-Rodriguez E,Barrios-Recio J,Garcia-Robaina JC, Flores C. Bradykinin-mediated angioedema: An update of the genetic causes and the impact of genomics. Front Genet. 2019 Sep 27;10:900. doi: 10.3389\/fgene.2019.00900<\/li>\n
              • Lorenzo-Salazar JM, Ma SF, Jou J, Hou PC, Guillen-Guio B, Allen RJ, Jenkins RG, Wain LV, Oldham JM, Noth I, Flores C. Novel idiopathic pulmonary fibrosis susceptibility variants revealed by deep sequencing (2019). European Respiratory Journal Open Research ERJ Open Res. 2019 Jun 10;5(2). pii: 00071-2019. doi: 10.1183\/23120541.00071-2019<\/li>\n
              • Serrano-S\u00e1nchez JA, Fern\u00e1ndez-Rodr\u00edguez MJ, Sanchis-Moysi J, Rodr\u00edguez-P\u00e9rez MDC, Marcelino-Rodr\u00edguez I, Cabrera de Le\u00f3n A. Domain and intensity of physical activity are associated with metabolic syndrome: A population-based study. PLoS One. 2019 Jul 17;14(7):e0219798. doi: 10.1371\/journal.pone.0219798<\/li>\n
              • Mate Redondo C, Rodr\u00edguez-P\u00e9rez MC, Dom\u00ednguez Coello S, Pedrero Garc\u00eda AJ, Marcelino Rodr\u00edguez I, Cuevas Fern\u00e1ndez FJ, Almeida Gonz\u00e1lez D, Brito D\u00edaz B, Rodr\u00edguez Esteban M, Cabrera de Le\u00f3n A. Hospital Mortality in 415 798 AMI Patients: 4 Years Earlier in the Canary Islands Than in the Rest of Spain [Mortalidad hospitalaria de 415.798 pacientes con IAM: 4 a\u00f1os antes en Canarias que en el conjunto de Espa\u00f1a]. Rev Esp Cardiol (Engl Ed). 2019 Jun;72(6):466-472. doi:10.1016\/j.rec.2018.06.023<\/li>\n<\/ul>\n

                OTHER SELECTED PUBLICATIONS FROM THE LAST 10 YEARS:<\/h4>\n
                  \n
                • Botigu\u00e9 LR, Henn BM, Corona E, Gignoux CR, Gravel S, Atzmon G, Burns E, Ostrer H, Flores C, Bertranpetit J, Comas D, Bustamante CD. Gene flow from North Africa contributes to differential human genetic diversity in Southern Europe. Proc Natl Acad Sci USA. 2013 Jul 16;110(29):11791-6. doi: 10.1073\/pnas.1306223110<\/li>\n
                • Noth I, Zhang Y, Ma SF, Flores C, Barber M, Huang Y, Broderick SM, Wade M, Hysi P, Sciurba JD, Richards T, Juan-Guardela BM, Vij R, Han ML, Martinez FJ, Kossen K, Seiwert SD, Christie JD, Nicolae D, Kaminksi N, Garcia JGN. Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. Lancet Respiratory Medicine. 2013 Jun;1(4):309-317. doi: 10.1016\/S2213-2600(13)70045-6<\/li>\n
                • Baez-Ortega A, Lorenzo-Diaz F, Hernandez M, Gonzalez-Vila CI, Roda-Garcia JL, Colebrook M, Flores C. IonGAP: Integrative bacterial genome analysis for Ion Torrent sequence data. Bioinformatics. 2015 Sep 1;31(17):2870-3. doi: 10.1093\/bioinformatics\/btv283<\/li>\n
                • Barreto-Luis A, Pino-Yanes M, Corrales A, Campo P, Callero A, Acosta-Herrera M, Cumplido J, Ma SF, Martinez-Tadeo J, Villar J, Garcia JGN, Carrillo T, Carracedo A, Blanca M, Flores C. Genome-wide association study in Spanish identifies ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), as a novel asthma susceptibility Journal of Allergy and Clinical Immunology. 2016Mar;137(3):964-6. doi: 10.1016\/j.jaci.2015.09.051<\/li>\n
                • Guillen-Guio B, Lorenzo-Salazar JM, Gonz\u00e1lez-Montelongo R, D\u00edaz-de Usera A, Marcelino-Rodr\u00edguez I, Corrales A, Cabrera de Le\u00f3n A, Alonso S, Flores C. Genomic analyses of human European diversity at the southwestern edge: isolation, African influence and disease associations in the Canary Islands. Molecular Biology and Evolution. Dec 1;35(12):3010-3026. doi: 10.1093\/molbev\/msy190<\/li>\n<\/ul>\n<\/div>\n
                  \n
                  \n
                  <\/div>\n<\/div>\n<\/div>\n

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                  [vc_row][vc_column][vc_column_text] Genetic variation and disease PRINCIPAL INVESTIGATOR Carlos Flores Infante, PhD Contracted Investigator SCS\/FIISC, Research Unit HUNSC and Genomic Unit of the Technological and Renewable Energies Institute POSTDOCTORAL RESEARCHERS: Itahisa Marcelino Rodr\u00edguez, PhD (Postdoctoral investigator, SCS\/FIISC, Research Unit HUNSC) Laura Ciuffreda, PhD (Postdoctoral investigator, SCS\/FIISC, Research Unit HUNSC) EXTERNAL POSTDOCTORAL COLLABORATORS: Rafaela Gonz\u00e1lez Montelongo, PhD…<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"templates\/template-no-title.php","meta":[],"_links":{"self":[{"href":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/wp-json\/wp\/v2\/pages\/292"}],"collection":[{"href":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/wp-json\/wp\/v2\/comments?post=292"}],"version-history":[{"count":1,"href":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/wp-json\/wp\/v2\/pages\/292\/revisions"}],"predecessor-version":[{"id":293,"href":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/wp-json\/wp\/v2\/pages\/292\/revisions\/293"}],"wp:attachment":[{"href":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/wp-json\/wp\/v2\/media?parent=292"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}