{"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\/variacion-genetica-y-enfermedad\/","title":{"rendered":"Variaci\u00f3n gen\u00e9tica y enfermedad"},"content":{"rendered":"\n<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\">Variaci\u00f3n gen\u00e9tica y enfermedad<\/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>Investigador responsable<\/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\" target=\"_blank\" rel=\"noopener\">Carlos Flores Infante<\/a>, PhD<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Investigador contratado del SCS\/FIISC; Unidad de Investigaci\u00f3n, HUNSC \u2013 Unidad de Gen\u00f3mica del Instituto Tecnol\u00f3gico y de Energ\u00edas Renovables<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Investigadores colaboradores doctores<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Itahisa Marcelino Rodr\u00edguez, PhD (Profesora Contratada Doctora; Departamento de Obstetricia y Ginecolog\u00eda, Pediatr\u00eda, Medicina Preventiva y Salud P\u00fablica, Toxicolog\u00eda, Medicina Legal y Forense y Parasitolog\u00eda, ULL)\u00a0?\u00a0<a href=\"https:\/\/portalciencia.ull.es\/investigadores\/152401\/detalle\" target=\"_blank\" rel=\"noreferrer noopener\" target=\"_blank\" rel=\"noopener\">Enlace a Portal Ciencia ULL<\/a><\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Colaboradores doctores externos<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Laura Ciuffreda, PhD (Programa \u00abSara Borrell\u00bb CD22\/00138, ISCIII)\u00a0<\/li>\n\n\n\n<li>Julia Alcoba Florez, PhD (Jefa de Secci\u00f3n de la Unidad de Microbiolog\u00eda, HUNSC)<\/li>\n\n\n\n<li>Ariel Callero Viera, PhD (Facultativo Especialista de \u00c1rea en Alergolog\u00eda, HUNSC)<\/li>\n\n\n\n<li>Victor Garc\u00eda Olivares, PhD (Investigador contratado, ITER)<\/li>\n\n\n\n<li>Rafaela Gonzal\u00e9z Montelongo, PhD (Responsable Unidad, ITER)<\/li>\n\n\n\n<li>Aitana Alonso Gonz\u00e1lez, PhD (investigadora Margarita Salas)<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Estudiantes de doctorado e investigadores en formaci\u00f3n<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Alejandro Mendoza \u00c1lvarez (Programa de Doctorado Ciencias M\u00e9dicas y Farmac\u00e9uticas, Desarrollo y Calidad de Vida ULL. Contrato FPU TESIS2020010002, contrato OA17\/008, tesis defendida 30\/06\/2023)<\/li>\n\n\n\n<li>H\u00e9ctor Rodr\u00edguez P\u00e9rez (Programa de Doctorado Ingenier\u00eda Industrial, Inform\u00e1tica y Medioambiental ULL, contrato proyecto IMPaCT-iDATA IMP\/00019, tesis defendida 22\/12\/2023)<\/li>\n\n\n\n<li>Jos\u00e9 M. Lorenzo Salazar (Programa de Doctorado Ciencias de la Salud ULL, ITER)<\/li>\n\n\n\n<li>Adri\u00e1n Mu\u00f1oz Barrera (Estudiante predoctoral, ITER)<\/li>\n\n\n\n<li>Luis A. Rubio Rodr\u00edguez (Estudiante predocoral, ITER)<\/li>\n\n\n\n<li>Ana D\u00edaz de Usera (Contrato ProID2021010084)<\/li>\n\n\n\n<li>Eva Tosco Herrera (Programa de Doctorado Ciencias M\u00e9dicas y Farmac\u00e9uticas, Desarrollo y Calidad de Vida ULL. Contrato FPU TESIS2021010046)<\/li>\n\n\n\n<li>Eva Su\u00e1rez Paj\u00e9s (Programa de Doctorado Ciencias de la Salud ULL, ITER, 2021-2025. Contrato FPU TESIS2022010042)<\/li>\n\n\n\n<li>David J\u00e1spez Toledo (investigador, ITER)<\/li>\n\n\n\n<li>Melody del Pino Ram\u00edrez Falc\u00f3n (Estudiante predoctoral, contrato proyecto ERAPERMED2021-259_i-RECORDS)<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Personal t\u00e9cnico o de gesti\u00f3n<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Almudena Corrales Moreno (Personal T\u00e9cnico de Apoyo, SCS\/FIISC, HUNSC)<\/li>\n\n\n\n<li>Antonio \u00cd\u00f1igo Campos (Personal T\u00e9cnico de Apoyo, ITER)<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>L\u00edneas de investigaci\u00f3n<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Diagnosis temprana y nuestras estrategias terap\u00e9uticas en pacientes de cuidados cr\u00edticos:<\/li>\n<\/ol>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Predisposici\u00f3n gen\u00e9tica: estudios de asociaci\u00f3n a gran escala (GWAS y estudios de exomas).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Microbioma pulmonar como biomarcadores de pron\u00f3stico.&nbsp;<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Diagnosis temprana y factores gen\u00e9ticos implicados en enfermedades de base inmunol\u00f3gica (mediante an\u00e1lisis de GWAS, exomas y genomas completos):<\/li>\n<\/ol>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Estudio de asociaci\u00f3n con susceptibilidad y supervivencia.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Estudios de asociaci\u00f3n con respuesta a tratamientos.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Secuenciaci\u00f3n m\u00e9dica (angioedema hereditario, fibrosis pulmonar idiop\u00e1tica).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 An\u00e1lisis metagen\u00f3micos.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 An\u00e1lisis gen\u00f3mico de agentes infecciosos.&nbsp;<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>L\u00edneas de desarrollo y mejoras tecnol\u00f3gicas en el \u00e1mbito de la secuenciaci\u00f3n gen\u00f3mica:<\/li>\n<\/ol>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Desarrollo de herramientas para el an\u00e1lisis integrado de datos de secuenciaci\u00f3n masiva de ADN, incluidas las dirigidas a facilitar el diagn\u00f3stico gen\u00e9tico.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Evaluaci\u00f3n de nuevas tecnolog\u00edas de secuenciaci\u00f3n para su acercamiento al paciente en el \u00e1mbito hospitalario.<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Diagn\u00f3stico y factores gen\u00e9ticos implicados en el desarrollo de la COVID-19 grave:<\/li>\n<\/ol>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Identificaci\u00f3n de las causas gen\u00e9ticas e inmunes implicadas en la susceptibilidad y desarrollo de las formas severas de la COVID-19, as\u00ed como en respuestas adversas resultado de las vacunas, mediante estudios de GWAS y secuenciaci\u00f3n del exoma\/genoma completo.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 Mejoras diagn\u00f3sticas y vigilancia gen\u00f3mica del SARS-CoV-2 y de otros virus respiratorios.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Proyectos financiados<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Evaluaci\u00f3n funcional de variantes asociadas y an\u00e1lisis gen\u00f3micos complementarios para identificar genes implicados en el s\u00edndrome de distr\u00e9s respiratorio agudo (PI20\/00876). IP: Carlos Flores. Instituto de Salud Carlos III (2021-2023, 159.720 \u20ac)<\/li>\n\n\n\n<li>Modificadores cl\u00ednicos y gen\u00e9ticos de la gravedad de la COVID-19 en pacientes con asma (PIFIISC20\/57). IP: Carlos Flores, Ariel Callero Viera. Fundaci\u00f3n Canaria Instituto de Investigaci\u00f3n Sanitaria de Canarias (2021-2022, prorrogado hasta 30\/11\/2023, 18.116,51 \u20ac)<\/li>\n\n\n\n<li>An\u00e1lisis de variantes farmacogen\u00f3micas utilizando datos de secuenciaci\u00f3n de nueva generaci\u00f3n (PHARMA-CAN). SUBPROYECTO 1: Farmacogen\u00e9tica en el entorno cl\u00ednico: gesti\u00f3n, investigaci\u00f3n y validaci\u00f3n de la metodolog\u00eda (ProID2021010084). IP: Itahisa Marcelino. Agencia Canaria de Investigaci\u00f3n, Innovaci\u00f3n y Sociedad de la Informaci\u00f3n, ACIISI (03\/2021 \u2013 04\/2023, 68.365,15 \u20ac importe total)<\/li>\n\n\n\n<li>Identificaci\u00f3n de las bases gen\u00e9ticas de la Diabetes Tipo 1 en las Islas Canarias. IP: Itahisa Marcelino. Fundaci\u00f3n DISA (2022-2023, 25.000 \u20ac)<\/li>\n\n\n\n<li>ProCIBERdexa: Proyecto multidisciplinar CIBER para optimizar la dosis de dexametasona en pacientes con insuficiencia respiratoria (IC20\/00062). IP: Jes\u00fas Villar Hern\u00e1ndez (Carlos Flores coordinador del subproyecto 3). Instituto de Salud Carlos III (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). IP: Inmaculada Casas (Carlos A. Flores Infante y Julia Alcoba Florez son Investigadores Responsables de las actividades de la Instituci\u00f3n Colaboradora). European Health and Digital Executive Agency (HADEA) (01\/07\/2023 \u2013 30\/06\/2025, 2.200.421,27 \u20ac)<\/li>\n\n\n\n<li>iDATA-MP. Programa de Ciencia de Datos de IMPaCT (IMP\/00019). IP: Alfonso Valencia Herrera\u00a0 (Carlos Flores IP para las Islas Canarias). Instituto de Salud Carlos III. 2021-2023. 4.549.380 \u20ac)<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Publicaciones 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>Flores 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>Flores 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>Flores 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>Lee D, Le Pen J, Yatim A, Dong B, Aquino Y, Ogishi M, Pescarmona R, Talouarn E, Rinchai D, Zhang P, Perret M, Liu Z, Jordan I, Bozdemir SE, Bayhan GI, Beaufils C, Bizien L, Bisiaux A, Lei W, Hasan M, Chen J, Gaughan C, Asthana A, Libri V, Luna JM, Jaffre F, Hoffmann HH, Michailidis E, Moreews M, Seeleuthner Y, Bilguvar K, Mane S,\u00a0<strong>Flores 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 X, CoV-Contact Cohort, COVID Human Genetic Effort, Pan-Hammarstr\u00f6m Q, Planas AM, Meyts I, Haerynck F, Pujol A, Sancho-Shimizu V, 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>Flores 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,\u00a0 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>Flores 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,\u00a0 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>Flores 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, Troya 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>Flores 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>Flores 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>Flores 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>Flores 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.\u00a0 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>Flores 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>Flores 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>Flores 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>Flores 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>Flores 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>Flores 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>Flores 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>Flores 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>Flores 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>Flores 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.0000000000000997<\/li>\n\n\n\n<li>Le Voyer T, Parent AV, Liu X, Cederholm A, Gervais A, Rosain J, Nguyen T, Perez Lorenzo M, Rackaityte E, Rinchai D, Zhang P, Bizien L, Hancioglu G, Ghillani-Dalbin P, Charuel JL, Philippot Q, Gueye MS, Maglorius Renkilaraj MRL, Ogishi M, Soud\u00e9e C, Migaud M, Rozenberg F, Momenilandi M, Riller Q, Imberti L, Delmonte OM, M\u00fcller G, Keller B, Orrego J, Franco Gallego WA, et. al (<strong>Flores 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>Flores C<\/strong>). Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children.\u00a0Journal 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>Otras publicaciones representativas de los \u00faltimos a\u00f1os<\/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>Flores 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>Flores 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>Flores 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>Flores 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>Flores C<\/strong>. Genomic analyses of human European diversity at the southwestern edge:\u00a0 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>\n","protected":false},"excerpt":{"rendered":"<p>Variaci\u00f3n gen\u00e9tica y enfermedad Investigador responsable Carlos Flores Infante, PhD Investigador contratado del SCS\/FIISC; Unidad de Investigaci\u00f3n, HUNSC \u2013 Unidad de Gen\u00f3mica del Instituto Tecnol\u00f3gico y de Energ\u00edas Renovables Investigadores colaboradores doctores Colaboradores doctores externos Estudiantes de doctorado e investigadores en formaci\u00f3n Personal t\u00e9cnico o de gesti\u00f3n L\u00edneas de investigaci\u00f3n \u2013 Predisposici\u00f3n gen\u00e9tica: estudios de&#8230;<\/p>\n","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\/wp-json\/wp\/v2\/pages\/263","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/wp-json\/wp\/v2\/comments?post=263"}],"version-history":[{"count":6,"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/wp-json\/wp\/v2\/pages\/263\/revisions"}],"predecessor-version":[{"id":1022,"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/wp-json\/wp\/v2\/pages\/263\/revisions\/1022"}],"wp:attachment":[{"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/wp-json\/wp\/v2\/media?parent=263"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}