{"id":263,"date":"2021-03-11T11:35:43","date_gmt":"2021-03-11T11:35:43","guid":{"rendered":"http:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/?page_id=263"},"modified":"2026-07-08T12:14:41","modified_gmt":"2026-07-08T12:14:41","slug":"variacion-genetica-y-enfermedad","status":"publish","type":"page","link":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/en\/variacion-genetica-y-enfermedad\/","title":{"rendered":"Genetic variation and disease"},"content":{"rendered":"<div class=\"wp-block-stackable-columns alignfull stk-block-columns stk-block stk-49c10bb stk-block-background stk--has-background-overlay\" data-block-id=\"49c10bb\"><style>.stk-49c10bb {background-color:linear-gradient(135deg,rgb(161,9,157) 1%,rgb(63,37,132) 100%) !important;margin-top:-3% !important;margin-bottom:3% !important;}.stk-49c10bb:before{background-image:linear-gradient(135deg,rgb(161,9,157) 1%,rgb(63,37,132) 100%) !important;}.stk-49c10bb-column{justify-content:center !important;}<\/style><div class=\"stk-row stk-inner-blocks stk-block-content stk-content-align stk-49c10bb-column stk--flex alignfull\">\n<div class=\"wp-block-stackable-column stk-block-column stk-column stk-block stk-429e70e\" data-v=\"4\" data-block-id=\"429e70e\"><div class=\"stk-column-wrapper stk-block-column__content stk-container stk-429e70e-container stk--no-background stk--no-padding\"><div class=\"stk-block-content stk-inner-blocks stk-429e70e-inner-blocks\">\n<div class=\"wp-block-stackable-heading stk-block-heading stk-block-heading--v2 stk-block stk-616317e\" id=\"variacion-genetica-y-enfermedad\" data-block-id=\"616317e\"><style>.stk-616317e {align-items:center !important;display:flex !important;}.stk-616317e .stk-block-heading__text{color:#ffffff !important;font-weight:800 !important;}<\/style><h2 class=\"stk-block-heading__text has-text-color has-text-align-center\">Genetic variation and disease<\/h2><\/div>\n<\/div><\/div><\/div>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-stackable-columns stk-block-columns stk-block stk-8b59b96\" data-block-id=\"8b59b96\"><style>.stk-8b59b96 .stk--block-align-8b59b96{align-items:flex-start !important;}.stk-8b59b96 {margin-top:25px !important;}.stk-8b59b96-column{--stk-columns-spacing:0px !important;--stk-column-gap:50px !important;}@media screen and (max-width: 767px){.stk-8b59b96-column{row-gap:var(--stk--preset--spacing--60, 2.25rem) !important;}}<\/style><div class=\"stk-row stk-inner-blocks stk--block-align-8b59b96 stk-block-content stk-content-align stk-8b59b96-column\">\n<div class=\"wp-block-stackable-column stk-block-column stk-column stk-block stk-dbb7e15\" data-v=\"4\" data-block-id=\"dbb7e15\"><div class=\"stk-column-wrapper stk-block-column__content stk-container stk-dbb7e15-container stk--no-background stk--no-padding\"><div class=\"stk-block-content stk-inner-blocks stk-dbb7e15-inner-blocks\">\n<h4 class=\"wp-block-heading\"><strong>Principal Investigator<\/strong><\/h4>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><a href=\"https:\/\/portalciencia.ull.es\/investigadores\/205537\/detalle\" target=\"_blank\" rel=\"noreferrer noopener\">Carlos Flores Infante<\/a>, PhD<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Contracted Researcher at SCS\/FIISC; Research Unit, HUNSC \u2013 Genomics Unit of the Institute of Technology and Renewable Energies<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Collaborating researchers (PhDs)<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Itahisa Marcelino Rodr\u00edguez, PhD (Contracted Professor; Department of Obstetrics and Gynecology, Pediatrics, Preventive Medicine and Public Health, Toxicology, Legal and Forensic Medicine and Parasitology, ULL) ?\u00a0<a href=\"https:\/\/portalciencia.ull.es\/investigadores\/152401\/detalle\" target=\"_blank\" rel=\"noreferrer noopener\">Link to ULL Science Portal<\/a><\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>External medical collaborators<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Laura Ciuffreda, PhD (Sara Borrell Program CD22\/00138, ISCIII)\u00a0<\/li>\n\n\n\n<li>Julia Alcoba Florez, PhD (Head of Section of the Microbiology Unit, HUNSC)<\/li>\n\n\n\n<li>Ariel Callero Viera, PhD (Specialist Physician in Allergology, HUNSC)<\/li>\n\n\n\n<li>Victor Garc\u00eda Olivares, PhD (Contract Researcher, ITER)<\/li>\n\n\n\n<li>Rafaela Gonzal\u00e9z Montelongo, PhD (Unit Manager, ITER)<\/li>\n\n\n\n<li>Aitana Alonso Gonz\u00e1lez, PhD (researcher Margarita Salas)<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>PhD students and researchers in training<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Alejandro Mendoza \u00c1lvarez (Doctoral Program in Medical and Pharmaceutical Sciences, Development and Quality of Life ULL. FPU Contract TESIS2020010002, contract OA17\/008, thesis defended 30\/06\/2023)<\/li>\n\n\n\n<li>H\u00e9ctor Rodr\u00edguez P\u00e9rez (Doctoral Program in Industrial, Computer and Environmental Engineering ULL, IMPaCT-iDATA project contract IMP\/00019, thesis defended 22\/12\/2023)<\/li>\n\n\n\n<li>Jos\u00e9 M. Lorenzo Salazar (Doctoral Program in Health Sciences ULL, ITER)<\/li>\n\n\n\n<li>Adri\u00e1n Mu\u00f1oz Barrera (Predoctoral student, ITER)<\/li>\n\n\n\n<li>Luis A. Rubio Rodr\u00edguez (Pre-choral student, ITER)<\/li>\n\n\n\n<li>Ana D\u00edaz de Usera (Contract ProID2021010084)<\/li>\n\n\n\n<li>Eva Tosco Herrera (Doctoral Program in Medical and Pharmaceutical Sciences, Development and Quality of Life ULL. FPU Contract TESIS2021010046)<\/li>\n\n\n\n<li>Eva Su\u00e1rez Paj\u00e9s (ULL Health Sciences Doctoral Program, ITER, 2021-2025. Contract FPU TESIS2022010042)<\/li>\n\n\n\n<li>David J\u00e1spez Toledo (researcher, ITER)<\/li>\n\n\n\n<li>Melody del Pino Ram\u00edrez Falc\u00f3n (Predoctoral student, contract project ERAPERMED2021-259_i-RECORDS)<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Technical or management staff<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Almudena Corrales Moreno (Technical Support Staff, SCS\/FIISC, HUNSC)<\/li>\n\n\n\n<li>Antonio \u00cd\u00f1igo Campos (Technical Support Staff, ITER)<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Lines of research<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Early diagnosis and our therapeutic strategies in critical care patients:<\/li>\n<\/ol>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Genetic predisposition: large-scale association studies (GWAS and exome studies).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Lung microbiome as prognostic biomarkers.&nbsp;<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Early diagnosis and genetic factors involved in immunologically based diseases (using GWAS, exome and whole genome analyses):<\/li>\n<\/ol>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Study of association with susceptibility and survival.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Studies of association with treatment response.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Medical sequencing (hereditary angioedema, idiopathic pulmonary fibrosis).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Metagenomic analyses.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Genomic analysis of infectious agents.&nbsp;<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Lines of development and technological improvements in the field of genomic sequencing:<\/li>\n<\/ol>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Development of tools for the integrated analysis of massive DNA sequencing data, including those aimed at facilitating genetic diagnosis.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Evaluation of new sequencing technologies for their approach to the patient in the hospital setting.<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Diagnosis and genetic factors involved in the development of severe COVID-19:<\/li>\n<\/ol>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Identification of the genetic and immune causes involved in the susceptibility and development of severe forms of COVID-19, as well as in adverse responses resulting from vaccines, through GWAS studies and whole exome\/genome sequencing.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Diagnostic improvements and genomic surveillance of SARS-CoV-2 and other respiratory viruses.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Funded projects<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Functional evaluation of associated variants and complementary genomic analyses to identify genes involved in acute respiratory distress syndrome (PI20\/00876). PI: Carlos Flores. Carlos III Health Institute (2021-2023, \u20ac159,720)<\/li>\n\n\n\n<li>Clinical and genetic modifiers of COVID-19 severity in patients with asthma (PIFIISC20\/57). PI: Carlos Flores, Ariel Callero Viera. Canary Islands Foundation Institute of Health Research of the Canary Islands (2021-2022, extended until 30\/11\/2023, \u20ac18,116.51)<\/li>\n\n\n\n<li>Analysis of pharmacogenomic variants using next-generation sequencing data (PHARMA-CAN). SUBPROJECT 1: Pharmacogenetics in the clinical setting: management, research and validation of the methodology (ProID2021010084). PI: Itahisa Marcelino. Canary Islands Agency for Research, Innovation and the Information Society, ACIISI (03\/2021 \u2013 04\/2023, \u20ac68,365.15 total amount)<\/li>\n\n\n\n<li>Identification of the genetic basis of Type 1 Diabetes in the Canary Islands. PI: Itahisa Marcelino. DISA Foundation (2022-2023, \u20ac25,000)<\/li>\n\n\n\n<li>ProCIBERdexa: CIBER multidisciplinary project to optimize dexamethasone dosage in patients with respiratory failure (IC20\/00062). PI: Jes\u00fas Villar Hern\u00e1ndez (Carlos Flores, coordinator of subproject 3). Carlos III Health Institute (2021-2023)<\/li>\n\n\n\n<li>Enhancing whole genome sequencing (WGS) and\/or reverse transcription polymerase chain reaction (RT-PCR) national infrastructures and capacities to respond to the COVID-19 pandemic and future health threats (101113109-RELECOV 2.0). PI: Inmaculada Casas (Carlos A. Flores Infante and Julia Alcoba Florez are Principal Investigators for the activities of the Collaborating Institution). European Health and Digital Executive Agency (HADEA) (01\/07\/2023 \u2013 30\/06\/2025, \u20ac2,200,421.27)<\/li>\n\n\n\n<li>iDATA-MP. IMPaCT Data Science Program (IMP\/00019). PI: Alfonso Valencia Herrera (Carlos Flores PI for the Canary Islands). Carlos III Health Institute. 2021-2023. \u20ac4,549,380<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Publications 2023<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Oldham JM, Allen RJ, Lorenzo-Salazar JM, Molyneaux PL, Ma SF, Joseph C, Kim JS, Guillen-Guio B, Hern\u00e1ndez-Beeftink T, Kropski J, Huang Y, Lee CT, Adegunsoy A, Pugashetti JV, Linderholm A, Vo V, Strek M, Hubbard R, Hirani N, Whyte MKB, Hart S, Nicholson A, Parfrey H, Rassl D, Wallace W, Valenzi E, Zhang Y, Kaminski N, Wolters P, Molina-Molina M, Martinez FJ, Hall I, Tobin MD, Maher TM, Blackwell T, Yaspan B, Jenkins RG,\u00a0<strong>Flowers C<\/strong>, Wain LV, Noth I. PCSK6 and Survival in Idiopathic Pulmonary Fibrosis.\u00a0<em>American Journal of Respiratory and Critical Care Medicine<\/em>. 2023;207(11):1515-1524. DOI: 10.1164\/rccm.202205-0845OC<\/li>\n\n\n\n<li>Allen RJ, Oldham JM, Jenkins DA, Leavy QC, Guillen-Guio B, Melbourne CA, Ma SF, Jou J, Kim JS, CleanUP-IPF Investigators of the Pulmonary Trials Cooperative, Fahy WA, Oballa E, Hubbard RB, Navaratnam V, Braybrooke R, Saini G, Roach KM, Tobin MD, Hirani N, Whyte MKB, Kaminski N, Zhang Y, Martinez FJ, Linderholm AL, Adegunsoye A, Strek ME, Maher TM, Molyneaux PL,\u00a0<strong>Flowers C<\/strong>, Noth I, Jenkins RG, Wain LV. Genome-wide analysis of longitudinal lung function and gas transfer in individuals with idiopathic pulmonary fibrosis.\u00a0<em>Lancet Respiratory Medicine<\/em>. 2023;11(1):65-73. DOI: 10.1016\/S2213-2600(22)00251-X<\/li>\n\n\n\n<li>Garc\u00eda-Olivares V, Rubio-Rodr\u00edguez LA, Mu\u00f1oz-Barrera A, D\u00edaz-de Usera A, J\u00e1spez D, I\u00f1igo-Campos A, Rodr\u00edguez P\u00e9rez MdC, Cabrera de Leon A, Lorenzo-Salazar JM, Gonz\u00e1lez-Montelongo R, Cabrera VM,\u00a0<strong>Flowers C<\/strong>. Digging into the admixture strata of current-day Canary Islanders based on mitogenomes.\u00a0<em>iScience<\/em>. 2023;26(1): 105907. DOI: 10.1016\/j.isci.2022.105907<\/li>\n\n\n\n<li>Read more Michailidis E, Moreews M, Seeleuthner Y, Bilguvar K, Mane S,\u00a0<strong>Flowers C<\/strong>, Zhang Y, Arias AA, Bailey R, Schl\u00fcter A, Milisavljevic B, Bigio B, Voyer TL, Materna M, Gervais A, Moncada-Velez M, Pala F, Lazarov T, Levy R, Neehus AL, Rosain J, Peel J, Chan YH, Morin MP, Pino-Ramirez RM, Belkaya S, Lorenzo L, Anton J, Delafontaine S, Toubiana J, Bajolle F, Fumado V, DeDiego ML, Fidouh N, Rozenberg F, Perez-Tur J, Chen S, Evans T, Geissmann F, Lebon P, Weiss SR, Bonnet D, Duval Dalgard C, Bustamante J, Puel A, Boisson-Dupuis S, Boisson B, Maniatis T, Zhang Q, Bastard P, Notarangelo L, Beziat V, Perez de Diego R, Rodriguez-Gallego C, Su HC, Lifton R, Jouanguy E, Cobat A, Alsina L, Keles S, Haddad E, Abel L, Belot A, Quintana-Murci L, Rice CM, Silverman RH, Zhang SY, Casanova JL. Inherited deficiency of the OAS\u2013RNase L pathway in SARS-CoV-2\u2013related multisystem inflammatory syndrome in children.\u00a0<em>Science<\/em>. 2023;379(6632): eabo3627. DOI: 10.1126\/science.abo3627<\/li>\n\n\n\n<li>Pairo-Castineira E, Rawlik K, Bretherick AD, Qi T, Wu Y, Nassiri I, McConkey GA, Zechner M, Klaric L, Griffiths F, Oosthuyzen W, Kousathanas A, Richmond A, Millar J, Russell CD, Malinauskas T, Thwaites R, Morrice K, Keating S, Maslove D, Nichol A, Semple MG, Knight J, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Begg C, Walsh T, Tenesa A,\u00a0<strong>Flowers C<\/strong>, Riancho JA, Rojas-Martinez A, Lapunzina P, GenOMICC Investigators, SCOURGE Consortium, ISARIC4C Investigators, The 23andMe COVID-19 Team, Yang J, Ponting CP, Wilson JF, Vitart V, Abedalthagafi M, Luchessi A, Parra E, Cruz-Guerrero R, Carracedo A, Fawkes A, Murphy L, Rowan K, Pereira AC, Law A, Fairfax B, Hendry SC, Baillie JK. GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.\u00a0<em>Nature<\/em>. 2023;617(7962):764-768. DOI: 10.1038\/s41586-023-06034-3<\/li>\n\n\n\n<li>Garc\u00eda-Olivares V, Mu\u00f1oz-Barrera A, Rubio Rodr\u00edguez LA, J\u00e1spez D, D\u00edaz de-Usera A, \u00cd\u00f1igo-Campos A, Veeramah KR, Alonso S, Thomas MG, Gonz\u00e1lez-Montelongo R, Lorenzo-Salazar JM,\u00a0<strong>Flowers C<\/strong>. Benchmarking of human Y-chromosomal haplogroup classifiers with whole-genome and whole-exome sequence data.\u00a0<em>Computational and Structural Biotechnology Journal<\/em>. 2023;21:4613-4618. DOI: 10.1016\/j.csbj.2023.09.012<\/li>\n\n\n\n<li>Matuozzo D, Talouarn E, Marchal A, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Zhang P, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Tayoun AA, Aiuti A, Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Cha\u00efbi K, Colobran R, Condino-Neto A, Covill LE, El Zein L,\u00a0<strong>Flowers C<\/strong>, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarstr\u00f6m L, Hatipo\u011flu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Akcan OM, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarstr\u00f6m Q, P\u00e9rez-de-Diego R, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivi\u00e8re JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schl\u00fcter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troy J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, von Bernuth H, Lermine A, Vidaud M, Boland A, Deleuze JF, Nussbaum R, Kahn-Kirby A, Mentre F, Tubiana S, Gorochov G, Tubach F, Hausfater P, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID-STORM Clinicians, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, Meyts I, Zhang SY, Puel A, Notarangelo LD, Boisson-Dupuis S, Su HC, Boisson B, Jouanguy E, Casanova JL, Zhang Q, Abel L, Cobat A. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.\u00a0<em>Genome Medicine<\/em>. 2023;15:22. DOI: 10.1186\/s13073-023-01173-8<\/li>\n\n\n\n<li>Tangye SG, COVID Human Genetic Effort (<strong>Flowers C<\/strong>). Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity.\u00a0<em>Journal of Allergy and Clinical Immunology<\/em>. 2023;151:818-831. DOI: 10.1016\/j.jaci.2022.11.010<\/li>\n\n\n\n<li>Garc\u00eda-Garc\u00eda A, P\u00e9rez de Diego R,\u00a0<strong>Flowers C<\/strong>, Rinchai D, Sol\u00e9-Viol\u00e1n J, Dey\u00e0-Mart\u00ednez A, Garc\u00eda-Solis B, Lorenzo-Salazar JM, Hern\u00e1ndez-Brito E, Lanz AL, Moens L, Bucciol G, Almuqamam M, Domachowske JB, Colino E, Santos-Perez JL, Marco FM, Pignata C, Bousfiha A, Turvey SE, Bauer S, Haerynck F, Ocejo-Vinyals JG, Lendinez F, Prader S, Naumann-Bartsch N, Pachlopnik Schmid J, Biggs CM, Hildebrand K, Dreesman A, C\u00e1rdenes MA, Ailal F, Benhsaien I, Giardino G, Molina-Fuentes A, Fortuny C, Madhavarapu S, Conway DH, Prando C, Schidlowski L, Mart\u00ednez de Saavedra \u00c1lvarez MT, Alfaro R, Rodr\u00edguez de Castro F, ESID Registry Working Party, COVID Human Genetic Effort, Meyts I, Hauck F, Puel A, Bastard P, Boisson B, Jouanguy E, Abel L, Cobat A, Zhang Q, Casanova JL, Alsina L, Rodr\u00edguez-Gallego C. Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.\u00a0<em>Journal of Experimental Medicine<\/em>. 2023;220(5):e20220170. DOI: 10.1084\/jem.20220170<\/li>\n\n\n\n<li>Bucciol G, Moens L, Ogishi M, Rinchai D, Matuozzo D, Momenilandi M, Kerrouche N, Cale CM, Treffeisen ER, Al Salamah M, Al Saud BK, Lachaux A, Duclaux-Loras R, Meignien M, Bousfiha A, Benhsaien I, Shcherbina A, Roppelt A, COVID Human Genetic Effort* (<strong>Flowers C<\/strong>), Gothe F, Houhou-Fidouh N, Hackett S, Bartnikas LM, Maciag MC, Alosaimi MF, Chou J, Mohammed RW, Freij BJ, Jouanguy E, Zhang SY, Boisson-Dupuis S, B\u00e9ziat V, Zhang Q, Duncan CJA, Hambleton S, Casanova JL, Meyts I. Inherited complete human STAT2 deficiency underlies inflammatory viral diseases.\u00a0<em>Journal of Clinical Investigation<\/em>. 2023;133(12):e168321. DOI: 10.1172\/JCI168321<\/li>\n\n\n\n<li>Reynolds CJ, Del Greco F, Allen RJ,\u00a0<strong>Flowers C<\/strong>, Jenkins RG, Maher TM, Molyneaux PL, Noth I, Oldham JM, Wain LV, An J, Ong JS, MacGregor S, Yates TA, Cullinan P, Minelli C. The causal relationship between gastro-esophageal reflux disease and idiopathic pulmonary fibrosis: A bidirectional two-sample Mendelian randomization study.\u00a0<em>European Respiratory Journal<\/em>. 2023;61(5):2201585. DOI: 10.1183\/13993003.01585-2022<\/li>\n\n\n\n<li>Mu\u00f1oz-Barrera A, Ciuffreda L, Alcoba-Florez J, Rubio-Rodr\u00edguez LA, Rodr\u00edguez-P\u00e9rez H, Gil-Campesino H, Garc\u00eda-Mart\u00ednez de Artola D, Salas-Hern\u00e1ndez J, Rodr\u00edguez-N\u00fa\u00f1ez J, \u00cd\u00f1igo-Campos A, Garc\u00eda-Olivares V, D\u00edez-Gil O, Gonz\u00e1lez-Montelongo R, Valenzuela-Fern\u00e1ndez A, Lorenzo-Salazar JM,\u00a0<strong>Flowers C<\/strong>. Bioinformatic approaches to draft the viral genome sequence of Canary Islands cases related to the multicountry mpox virus 2022-outbreak.\u00a0<em>Computational and Structural Biotechnology Journal<\/em>. 2023;21:2197-2203. DOI: 10.1016\/j.csbj.2023.03.020<\/li>\n\n\n\n<li>Ciuffreda L, Lorenzo-Salazar JM, Garc\u00eda-Mart\u00ednez de Artola D, Gil-Campesino H, Alcoba-Florez J, Rodr\u00edguez-P\u00e9rez H, \u00cd\u00f1igo-Campos A, Salas-Hern\u00e1ndez J, Rodr\u00edguez-Nu\u00f1ez J, Mu\u00f1oz-Barrera A, Valenzuela-Fern\u00e1ndez A, D\u00edez-Gil O, Gonz\u00e1lez-Montelongo R,\u00a0<strong>Flowers C<\/strong>. Reinfection rate and disease severity of the BA.5 Omicron SARS-CoV-2 lineage compared to previously circulating lineages of concern in the Canary Islands (Spain).\u00a0<em>Emerging Microbes and Infections<\/em>. 2023;12(1): 2202281. DOI: 10.1080\/22221751.2023.2202281<\/li>\n\n\n\n<li>Alonso-Gonzalez A, Tosco-Herrera E, Molina-Molina M,\u00a0<strong>Flowers C<\/strong>. Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine.\u00a0<em>Frontiers in Medicine<\/em>. 2023;10: 1152211. DOI: 10.3389\/fmed.2023.1152211<\/li>\n\n\n\n<li>Su HC, Jing H, Zhang Y, COVID Human Genetic Effort* (<strong>Flowers C<\/strong>), Casanova JL. Interfering with interferons: A critical mechanism for critical COVID-19 pneumonia.\u00a0<em>Annual Review of Immunology<\/em>. 2023;41:561-585. DOI: 10.1146\/annurev-immunol-101921-050835<\/li>\n\n\n\n<li>Cobat A, Zhang Q, COVID Human Genetic Effort* (<strong>Flowers C<\/strong>), Abel L, Casanova JL, Fellay J. Human Genomics of COVID-19 pneumonia: contributions of rare and common variants.\u00a0<em>Annual Review of Biomedical Data Science<\/em>. 2023;6:465-486. DOI: 10.1146\/annurev-biodatasci-020222-021705<\/li>\n\n\n\n<li>Alemany-Navarro M, Diz-de Almeida S, Cruz R, Riancho JA, Rojas-Mart\u00ednez A, Lapunzina P,\u00a0<strong>Flowers C<\/strong>, Scourge Cohort Group, Carracedo A. Psychiatric polygenic risk as a predictor of COVID-19 risk and severity: insight into the genetic overlap between schizophrenia and COVID-19.\u00a0<em>Translational Psychiatry<\/em>. 2023;13(1):189. DOI: 10.1038\/s41398-023-02482-7<\/li>\n\n\n\n<li>Suarez-Pajes E, Tosco-Herrera E, Ramirez-Falcon M, Gonzalez-Barbuzano S, Hernandez-Beeftink T, Guillen-Guio B, Villar J,\u00a0<strong>Flowers C<\/strong>. Genetic determinants of the acute respiratory distress syndrome.\u00a0<em>Journal of Clinical Medicine<\/em>. 2023;12(11):3713. DOI: 10.3390\/jcm12113713<\/li>\n\n\n\n<li>Gao L, Rafaels N, Dudenkov TM, Damarla M, Damico R, Maloney JP, Moss M, Martin GS, Sevransky J, Shanholtz C, Herr DL, Garcia JGN, Hernandez-Beeftink T, Villar J,\u00a0<strong>Flowers C<\/strong>, Beaty TH, Brower R, Hassoun PM, Barnes KC. Xanthine oxidoreductase gene polymorphisms are associated with high risk of sepsis and organ failure.\u00a0<em>Respiratory Research<\/em>. 2023;24(1):177. DOI: 10.1186\/s12931-023-02481-8<\/li>\n\n\n\n<li>Castro-Santos P, Rojas-Martinez A, Riancho JA, Lapunzina P,\u00a0<strong>Flowers C<\/strong>, SCOURGE Cohort Group, Carracedo A, D\u00edaz-Pe\u00f1a R. HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19.\u00a0<em>HLA<\/em>. 2023;102(6):731-739. DOI: 10.1111\/tan.15160<\/li>\n\n\n\n<li>Lawler PR, Manvelian G, Coppi A, Damask A, Cantor MN, Ferreira MAR, Paulding C, Banerjee N, Li D, Jorgensen S, Attre R, Carey DJ, Krebs K, Milani L, Hveem K, Dam\u00e5s JK, Sollig\u00e5rd E, Stender S, Tybj\u00e6rg-Hansen A, Nordestgaard BG, Hernandez-Beeftink T, Rogne T,\u00a0<strong>Flowers C<\/strong>, Villar J, Walley KR, Liu VX, Fohner A, Lotta LA, Kyratsous CA, Sleeman MW, Scemama M, DelGizzi R, Pordy R, Horowitz JE, Baras A, Martin GS, Steg PG, Schwartz GG, Szarek M, Goodman SG. Pharmacologic and genetic down-regulation of proprotein convertase subtilisin\/kexin type 9 and survival from sepsis.\u00a0<em>Critical Care Explorations<\/em>. 2023;5(11):e0997. DOI: 10.1097\/CCE.00000000000000997<\/li>\n\n\n\n<li>Le Voyer T, Parent AV, Liu Riller Q, Imberti L, Delmonte OM, M\u00fcller G, Keller B, Orrego J, Franco Gallego WA, et. to the (<strong>Flowers C<\/strong>). Autoantibodies against type I IFNs in humans with alternative NF-\u03baB pathway deficiency.\u00a0<em>Nature<\/em>. 2023;623(7988):803-813. DOI: 10.1038\/s41586-023-06717-x<\/li>\n\n\n\n<li>Bucciol G, Abel L, Al-Muhsen S, Aiuti A, Al-Mulla F, Andreakos E, COVID Human Genetic Effort* (<strong>Flowers C<\/strong>). Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children. Journal of Allergy and Clinical Immunology. 2023;151(4):832-40. DOI: 10.1016\/J.JACI.2023.02.003<\/li>\n\n\n\n<li>Almeida Gonz\u00e1lez D, Rodr\u00edguez-P\u00e9rez MDC, Fuentes Ferrer M, Cuevas Fern\u00e1ndez FJ,\u00a0<strong>Marcelino Rodr\u00edguez I<\/strong>, Cabrera de Le\u00f3n A. Irisin, in women and men: blood pressure, heart rate, obesity and insulin resistance.\u00a0<em>Frontiers in Endocrinology<\/em>. 2023 Jun;14. DOI: 10.3389\/FENDO.2023.1193110<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Other representative publications from recent years<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Wagner J, Olson ND, Harris L, McDaniel J, Cheng H, Fungtammasan A, Hwang YC, Gupta R, Wenger AM, Rowell WJ, Khan ZM, Farek J, Zhu Y, Pisupati A, Mahmoud M, Xiao C, Yoo B, Sahraeian SME, Miller DE, J\u00e1spez D, Lorenzo-Salazar JM, Mu\u00f1oz-Barrera A, Rubio-Rodr\u00edguez LA,\u00a0<strong>Flowers C<\/strong>, Narzisi G, Evani US, Clarke WE, Lee J, Ebbert MTW, Shumate A, Li H, Chin CS, Zook JM, Sedlazeck FJ. Curated variation benchmarks for challenging medically relevant autosomal genes.\u00a0<em>Nature Biotechnology<\/em>. 2022 May;40(5):672-680. DOI: 10.1038\/s41587-021-01158-1<\/li>\n\n\n\n<li>Hernandez-Beeftink T, Guillen-Guio B, Lorenzo-Salazar JM, Corrales A, Suarez-Pajes E, Feng R, Rubio-Rodr\u00edguez LA, Paynton ML, Cruz-Guerrero R, Garc\u00eda-Laorden MI, Prieto-Gonz\u00e1lez M, Rodr\u00edguez-P\u00e9rez A, Carriedo D, Blanco J, Ambr\u00f3s A, Gonz\u00e1lez-Higueras E, Espinosa E, Muriel A, Tamayo E, Martin MM, Lorente L, Dom\u00ednguez D, Garc\u00eda de Lorenzo A, Giannini HM, Reilly JP, Jones TK, A\u00f1\u00f3n JM, Soro M, Carracedo A, Wain LV, Meyer NJ, Villar J,\u00a0<strong>Flowers C<\/strong>. A Genome-Wide Association Study of Survival in Patients with Sepsis.\u00a0<em>Critical Care<\/em>. 2022 Nov 5;26(1):341. DOI: 10.1186\/s13054-022-04208-5<\/li>\n\n\n\n<li>Rodr\u00edguez-P\u00e9rez H, Ciuffreda L,\u00a0<strong>Flowers C<\/strong>. NanoCLUST: a species-level analysis of 16S rRNA nanopore sequencing data.\u00a0<em>Bioinformatics<\/em>. 2021 Jul;37(11):1600-1601. DOI: 10.1093\/bioinformatics\/btaa900<\/li>\n\n\n\n<li>Guillen-Guio B, Lorenzo-Salazar JM, Ma SF, Hou PC, Hernandez-Beeftink T, Corrales A, Garc\u00eda-Laorden MI, Jou J, Espinosa E, Muriel A, Dom\u00ednguez D, Lorente L, Mart\u00edn MM, Rodr\u00edguez-Gallego C, Sol\u00e9-Viol\u00e1n J, Ambr\u00f3s A, Carriedo D, Blanco J, A\u00f1\u00f3n JM, Reilly JP, Jones TK, Ittner CAG, Feng R, Sch\u00f6neweck F, Kiehntopf M, Noth I, Scholz M, Brunkhorst FM, Scherag A, Meyer NJ, Villar J,\u00a0<strong>Flowers C<\/strong>. Genome-wide association study of sepsis-associated acute respiratory distress syndrome in individuals of European ancestry.\u00a0<em>Lancet Respir Med<\/em>. 2020 Mar;8(3):258-266. DOI: 10.1016\/S2213-2600(19)30368-6<\/li>\n\n\n\n<li>Guillen-Guio B, Lorenzo-Salazar JM, Gonz\u00e1lez-Montelongo R, D\u00edaz-de Usera A,\u00a0<strong>Marcelino-Rodr\u00edguez I<\/strong>, Corrales A, Cabrera de Le\u00f3n A, Alonso S,\u00a0<strong>Flowers C<\/strong>. Genomic analyzes of human European diversity at the southwestern edge: isolation, African influence and disease associations in the Canary Islands.\u00a0<em>Molecular Biology and Evolution<\/em>. 2018 Dec;35(12):3010-3026. DOI: 10.1093\/molbev\/msy190<\/li>\n<\/ul>\n<\/div><\/div><\/div>\n<\/div><\/div>","protected":false},"excerpt":{"rendered":"<p>Genetic Variation and Disease. Principal Investigator: Carlos Flores Infante, PhD. Contracted Researcher at SCS\/FIISC; Research Unit, HUNSC \u2013 Genomics Unit of the Institute of Technology and Renewable Energies. Collaborating PhD Researchers. External PhD Collaborators. PhD Students and Research Trainees. Technical or Management Staff. Research Lines \u2013 Genetic predisposition: studies of\u2026<\/p>","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"templates\/template-frontpage.php","meta":{"footnotes":""},"class_list":["post-263","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/en\/wp-json\/wp\/v2\/pages\/263","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/en\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/en\/wp-json\/wp\/v2\/comments?post=263"}],"version-history":[{"count":6,"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/en\/wp-json\/wp\/v2\/pages\/263\/revisions"}],"predecessor-version":[{"id":1022,"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/en\/wp-json\/wp\/v2\/pages\/263\/revisions\/1022"}],"wp:attachment":[{"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/en\/wp-json\/wp\/v2\/media?parent=263"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}