{"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":"2024-09-11T09:20:34","modified_gmt":"2024-09-11T09:20:34","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":"<p>[vc_row][vc_column][vc_column_text]<\/p>\n<div class=\"page-header\">\n<h1>Variaci\u00f3n gen\u00e9tica y enfermedad<\/h1>\n<\/div>\n<div class=\"content\">\n<h4><b>Investigador responsable<\/b><\/h4>\n<table class=\"jefe\">\n<tbody>\n<tr>\n<td class=\"provisional\"><\/td>\n<td><strong><a href=\"https:\/\/portalciencia.ull.es\/investigadores\/205537\/detalle\" target=\"_blank\" rel=\"noopener\" target=\"_blank\" rel=\"noopener\">Carlos Flores Infante<\/a>, PhD<\/strong><\/p>\n<p>Investigador contratado del SCS\/FIISC; Unidad de Investigaci\u00f3n, HUNSC &#8211; Unidad de Gen\u00f3mica del Instituto Tecnol\u00f3gico y de Energ\u00edas Renovables<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>&nbsp;<\/p>\n<p><b>Investigadores colaboradores doctores<\/b><\/p>\n<ul>\n<li aria-level=\"1\"><span style=\"font-weight: 400;\">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) <\/span><span style=\"font-weight: 400;\">\ud83e\udc6a<\/span> <a href=\"https:\/\/portalciencia.ull.es\/investigadores\/152401\/detalle\" target=\"_blank\" rel=\"noopener\"><span style=\"font-weight: 400;\">Enlace a Portal Ciencia ULL<\/span><\/a><\/li>\n<\/ul>\n<p><b>Colaboradores doctores externos<\/b><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Laura Ciuffreda, PhD (Programa \u00abSara Borrell\u00bb CD22\/00138, ISCIII)\u00a0<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Julia Alcoba Florez, PhD (Jefa de Secci\u00f3n de la Unidad de Microbiolog\u00eda, HUNSC)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Ariel Callero Viera, PhD (Facultativo Especialista de \u00c1rea en Alergolog\u00eda, HUNSC)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Victor Garc\u00eda Olivares, PhD (Investigador contratado, ITER)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Rafaela Gonzal\u00e9z Montelongo, PhD (Responsable Unidad, ITER)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Aitana Alonso Gonz\u00e1lez, PhD (investigadora Margarita Salas)<\/span><\/li>\n<\/ul>\n<p><b>Estudiantes de doctorado e investigadores en formaci\u00f3n<\/b><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Jos\u00e9 M. Lorenzo Salazar (Programa de Doctorado Ciencias de la Salud ULL, ITER)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Adri\u00e1n Mu\u00f1oz Barrera (Estudiante predoctoral, ITER)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Luis A. Rubio Rodr\u00edguez (Estudiante predocoral, ITER)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Ana D\u00edaz de Usera (Contrato ProID2021010084)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Eva Tosco Herrera (Programa de Doctorado Ciencias M\u00e9dicas y Farmac\u00e9uticas, Desarrollo y Calidad de Vida ULL. Contrato FPU TESIS2021010046)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Eva Su\u00e1rez Paj\u00e9s (Programa de Doctorado Ciencias de la Salud ULL, ITER, 2021-2025. Contrato FPU TESIS2022010042)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">David J\u00e1spez Toledo (investigador, ITER)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Melody del Pino Ram\u00edrez Falc\u00f3n (Estudiante predoctoral, contrato proyecto ERAPERMED2021-259_i-RECORDS)<\/span><\/li>\n<\/ul>\n<p><b>Personal t\u00e9cnico o de gesti\u00f3n<\/b><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Almudena Corrales Moreno (Personal T\u00e9cnico de Apoyo, SCS\/FIISC, HUNSC)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Antonio \u00cd\u00f1igo Campos (Personal T\u00e9cnico de Apoyo, ITER)<\/span><\/li>\n<\/ul>\n<p><b>L\u00edneas de investigaci\u00f3n<\/b><\/p>\n<ol>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Diagnosis temprana y nuestras estrategias terap\u00e9uticas en pacientes de cuidados cr\u00edticos:<\/span><\/li>\n<\/ol>\n<p><span style=\"font-weight: 400;\">&#8211; Predisposici\u00f3n gen\u00e9tica: estudios de asociaci\u00f3n a gran escala (GWAS y estudios de exomas).<\/span><\/p>\n<p><span style=\"font-weight: 400;\">&#8211; Microbioma pulmonar como biomarcadores de pron\u00f3stico.\u00a0<\/span><\/p>\n<ol>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Diagnosis temprana y factores gen\u00e9ticos implicados en enfermedades de base inmunol\u00f3gica (mediante an\u00e1lisis de GWAS, exomas y genomas completos):<\/span><\/li>\n<\/ol>\n<p><span style=\"font-weight: 400;\">&#8211; Estudio de asociaci\u00f3n con susceptibilidad y supervivencia.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">&#8211; Estudios de asociaci\u00f3n con respuesta a tratamientos.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">&#8211; Secuenciaci\u00f3n m\u00e9dica (angioedema hereditario, fibrosis pulmonar idiop\u00e1tica).<\/span><\/p>\n<p><span style=\"font-weight: 400;\">&#8211; An\u00e1lisis metagen\u00f3micos.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">&#8211; An\u00e1lisis gen\u00f3mico de agentes infecciosos.\u00a0<\/span><\/p>\n<ol>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">L\u00edneas de desarrollo y mejoras tecnol\u00f3gicas en el \u00e1mbito de la secuenciaci\u00f3n gen\u00f3mica:<\/span><\/li>\n<\/ol>\n<p><span style=\"font-weight: 400;\">&#8211; 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.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">&#8211; Evaluaci\u00f3n de nuevas tecnolog\u00edas de secuenciaci\u00f3n para su acercamiento al paciente en el \u00e1mbito hospitalario.<\/span><\/p>\n<ol>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Diagn\u00f3stico y factores gen\u00e9ticos implicados en el desarrollo de la COVID-19 grave:<\/span><\/li>\n<\/ol>\n<p><span style=\"font-weight: 400;\">&#8211; 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.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">&#8211; Mejoras diagn\u00f3sticas y vigilancia gen\u00f3mica del SARS-CoV-2 y de otros virus respiratorios.<\/span><\/p>\n<p><b>Proyectos financiados<\/b><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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 &#8211; 04\/2023, 68.365,15 \u20ac importe total)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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 &#8211; 30\/06\/2025, 2.200.421,27 \u20ac)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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)<\/span><\/li>\n<\/ul>\n<p><b>Publicaciones 2023<\/b><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">, Wain LV, Noth I. PCSK6 and Survival in Idiopathic Pulmonary Fibrosis. <\/span><i><span style=\"font-weight: 400;\">American Journal of Respiratory and Critical Care Medicine<\/span><\/i><span style=\"font-weight: 400;\">. 2023;207(11):1515-1524. DOI: 10.1164\/rccm.202205-0845OC<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">, Noth I, Jenkins RG, Wain LV. Genome-wide analysis of longitudinal lung function and gas transfer in individuals with idiopathic pulmonary fibrosis. <\/span><i><span style=\"font-weight: 400;\">Lancet Respiratory Medicine<\/span><\/i><span style=\"font-weight: 400;\">. 2023;11(1):65-73. DOI: 10.1016\/S2213-2600(22)00251-X<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">. Digging into the admixture strata of current-day Canary Islanders based on mitogenomes. <\/span><i><span style=\"font-weight: 400;\">iScience<\/span><\/i><span style=\"font-weight: 400;\">. 2023;26(1): 105907. DOI: 10.1016\/j.isci.2022.105907<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">, Zhang Y, Arias AA, Bailey R, Schlu\u0308ter 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. <\/span><i><span style=\"font-weight: 400;\">Science<\/span><\/i><span style=\"font-weight: 400;\">. 2023;379(6632): eabo3627. DOI: 10.1126\/science.abo3627<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">, 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. <\/span><i><span style=\"font-weight: 400;\">Nature<\/span><\/i><span style=\"font-weight: 400;\">. 2023;617(7962):764-768. DOI: 10.1038\/s41586-023-06034-3<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">. Benchmarking of human Y-chromosomal haplogroup classifiers with whole-genome and whole-exome sequence data. <\/span><i><span style=\"font-weight: 400;\">Computational and Structural Biotechnology Journal<\/span><\/i><span style=\"font-weight: 400;\">. 2023;21:4613-4618. DOI: 10.1016\/j.csbj.2023.09.012<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">, 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. <\/span><i><span style=\"font-weight: 400;\">Genome Medicine<\/span><\/i><span style=\"font-weight: 400;\">. 2023;15:22. DOI: 10.1186\/s13073-023-01173-8<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Tangye SG, COVID Human Genetic Effort (<\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">). Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity. <\/span><i><span style=\"font-weight: 400;\">Journal of Allergy and Clinical Immunology<\/span><\/i><span style=\"font-weight: 400;\">. 2023;151:818-831. DOI: 10.1016\/j.jaci.2022.11.010<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Garc\u00eda-Garc\u00eda A, P\u00e9rez de Diego R, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">, 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. <\/span><i><span style=\"font-weight: 400;\">Journal of Experimental Medicine<\/span><\/i><span style=\"font-weight: 400;\">. 2023;220(5):e20220170. DOI: 10.1084\/jem.20220170<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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* (<\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">), 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. <\/span><i><span style=\"font-weight: 400;\">Journal of Clinical Investigation<\/span><\/i><span style=\"font-weight: 400;\">. 2023;133(12):e168321. DOI: 10.1172\/JCI168321<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Reynolds CJ, Del Greco F, Allen RJ, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">, 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. <\/span><i><span style=\"font-weight: 400;\">European Respiratory Journal<\/span><\/i><span style=\"font-weight: 400;\">. 2023;61(5):2201585.\u00a0 DOI: 10.1183\/13993003.01585-2022<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">. Bioinformatic approaches to draft the viral genome sequence of Canary Islands cases related to the multicountry mpox virus 2022-outbreak. <\/span><i><span style=\"font-weight: 400;\">Computational and Structural Biotechnology Journal<\/span><\/i><span style=\"font-weight: 400;\">. 2023;21:2197-2203. DOI: 10.1016\/j.csbj.2023.03.020<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">. 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). <\/span><i><span style=\"font-weight: 400;\">Emerging Microbes and Infections<\/span><\/i><span style=\"font-weight: 400;\">. 2023;12(1): 2202281. DOI: 10.1080\/22221751.2023.2202281<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Alonso-Gonzalez A, Tosco-Herrera E, Molina-Molina M, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">. Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine. <\/span><i><span style=\"font-weight: 400;\">Frontiers in Medicine<\/span><\/i><span style=\"font-weight: 400;\">. 2023;10: 1152211. DOI: 10.3389\/fmed.2023.1152211<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Su HC, Jing H, Zhang Y, COVID Human Genetic Effort* (<\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">), Casanova JL. Interfering with interferons: A critical mechanism for critical COVID-19 pneumonia. <\/span><i><span style=\"font-weight: 400;\">Annual Review of Immunology<\/span><\/i><span style=\"font-weight: 400;\">. 2023;41:561-585. DOI: 10.1146\/annurev-immunol-101921-050835<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Cobat A, Zhang Q, COVID Human Genetic Effort* (<\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">), Abel L, Casanova JL, Fellay J. Human Genomics of COVID-19 pneumonia: contributions of rare and common variants. <\/span><i><span style=\"font-weight: 400;\">Annual Review of Biomedical Data Science<\/span><\/i><span style=\"font-weight: 400;\">. 2023;6:465-486. DOI: 10.1146\/annurev-biodatasci-020222-021705<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Alemany-Navarro M, Diz-de Almeida S, Cruz R, Riancho JA, Rojas-Mart\u00ednez A, Lapunzina P, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">, 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. <\/span><i><span style=\"font-weight: 400;\">Translational Psychiatry<\/span><\/i><span style=\"font-weight: 400;\">. 2023;13(1):189. DOI: 10.1038\/s41398-023-02482-7<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Suarez-Pajes E, Tosco-Herrera E, Ramirez-Falcon M, Gonzalez-Barbuzano S, Hernandez-Beeftink T, Guillen-Guio B, Villar J, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">. Genetic determinants of the acute respiratory distress syndrome. <\/span><i><span style=\"font-weight: 400;\">Journal of Clinical Medicine<\/span><\/i><span style=\"font-weight: 400;\">. 2023;12(11):3713. DOI: 10.3390\/jcm12113713<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">, Beaty TH, Brower R, Hassoun PM, Barnes KC. Xanthine oxidoreductase gene polymorphisms are associated with high risk of sepsis and organ failure. <\/span><i><span style=\"font-weight: 400;\">Respiratory Research<\/span><\/i><span style=\"font-weight: 400;\">. 2023;24(1):177. DOI: 10.1186\/s12931-023-02481-8<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Castro-Santos P, Rojas-Martinez A, Riancho JA, Lapunzina P, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">, 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. <\/span><i><span style=\"font-weight: 400;\">HLA<\/span><\/i><span style=\"font-weight: 400;\">. 2023;102(6):731-739. DOI: 10.1111\/tan.15160<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">, 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. <\/span><i><span style=\"font-weight: 400;\">Critical Care Explorations<\/span><\/i><span style=\"font-weight: 400;\">. 2023;5(11):e0997. DOI: 10.1097\/CCE.0000000000000997<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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 (<\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">). Autoantibodies against type I IFNs in humans with alternative NF-\u03baB pathway deficiency. <\/span><i><span style=\"font-weight: 400;\">Nature<\/span><\/i><span style=\"font-weight: 400;\">. 2023;623(7988):803-813. DOI: 10.1038\/s41586-023-06717-x<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Bucciol G, Abel L, Al-Muhsen S, Aiuti A, Al-Mulla F, Andreakos E, COVID Human Genetic Effort* (<\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">). Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children. <\/span><span style=\"font-weight: 400;\">Journal of Allergy and Clinical Immunology<\/span><span style=\"font-weight: 400;\">. 2023;151(4):832-40. DOI: 10.1016\/J.JACI.2023.02.003<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Almeida Gonz\u00e1lez D, Rodr\u00edguez-P\u00e9rez MDC, Fuentes Ferrer M, Cuevas Fern\u00e1ndez FJ, <\/span><b>Marcelino Rodr\u00edguez I<\/b><span style=\"font-weight: 400;\">, Cabrera de Le\u00f3n A. Irisin, in women and men: blood pressure, heart rate, obesity and insulin resistance. <\/span><i><span style=\"font-weight: 400;\">Frontiers in Endocrinology<\/span><\/i><span style=\"font-weight: 400;\">. 2023 Jun;14. DOI: 10.3389\/FENDO.2023.1193110<\/span><\/li>\n<\/ul>\n<p><b>Otras publicaciones representativas de los \u00faltimos a\u00f1os<\/b><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">, 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. <\/span><i><span style=\"font-weight: 400;\">Nature Biotechnology<\/span><\/i><span style=\"font-weight: 400;\">. 2022 May;40(5):672-680. DOI: 10.1038\/s41587-021-01158-1<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">. A Genome-Wide Association Study of Survival in Patients with Sepsis. <\/span><i><span style=\"font-weight: 400;\">Critical Care<\/span><\/i><span style=\"font-weight: 400;\">. 2022 Nov 5;26(1):341. DOI: 10.1186\/s13054-022-04208-5<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Rodr\u00edguez-P\u00e9rez H, Ciuffreda L, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">. NanoCLUST: a species-level analysis of 16S rRNA nanopore sequencing data. <\/span><i><span style=\"font-weight: 400;\">Bioinformatics<\/span><\/i><span style=\"font-weight: 400;\">. 2021 Jul;37(11):1600-1601. DOI: 10.1093\/bioinformatics\/btaa900<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">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, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">. Genome-wide association study of sepsis-associated acute respiratory distress syndrome in individuals of European ancestry. <\/span><i><span style=\"font-weight: 400;\">Lancet Respir Med<\/span><\/i><span style=\"font-weight: 400;\">. 2020 Mar;8(3):258-266. DOI: 10.1016\/S2213-2600(19)30368-6<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Guillen-Guio B, Lorenzo-Salazar JM, Gonz\u00e1lez-Montelongo R, D\u00edaz-de Usera A, <\/span><b>Marcelino-Rodr\u00edguez I<\/b><span style=\"font-weight: 400;\">, Corrales A, Cabrera de Le\u00f3n A, Alonso S, <\/span><b>Flores C<\/b><span style=\"font-weight: 400;\">. Genomic analyses of human European diversity at the southwestern edge:\u00a0 isolation, African influence and disease associations in the Canary Islands. <\/span><i><span style=\"font-weight: 400;\">Molecular Biology and Evolution<\/span><\/i><span style=\"font-weight: 400;\">. 2018 Dec;35(12):3010-3026. DOI: 10.1093\/molbev\/msy190<\/span><\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<\/div>\n<p>[\/vc_column_text][\/vc_column][\/vc_row]<\/p>\n","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column][vc_column_text] Variaci\u00f3n gen\u00e9tica y enfermedad Investigador responsable Carlos Flores Infante, PhD Investigador contratado del SCS\/FIISC; Unidad de Investigaci\u00f3n, HUNSC &#8211; Unidad de Gen\u00f3mica del Instituto Tecnol\u00f3gico y de Energ\u00edas Renovables &nbsp; Investigadores colaboradores doctores 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&#8230;<\/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\/instituto-tecnologias-biomedicas\/wp-json\/wp\/v2\/pages\/263"}],"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":599,"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/wp-json\/wp\/v2\/pages\/263\/revisions\/599"}],"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}]}}