{"id":2642,"date":"2019-10-07T13:13:13","date_gmt":"2019-10-07T11:13:13","guid":{"rendered":"https:\/\/idibell.cat\/?page_id=2642"},"modified":"2024-04-11T12:11:14","modified_gmt":"2024-04-11T10:11:14","slug":"human-molecular-genetics","status":"publish","type":"page","link":"https:\/\/idibell.cat\/en\/research\/translational-medicine-area\/genes-disease-and-therapy-program\/human-molecular-genetics\/","title":{"rendered":"Human Molecular Genetics"},"content":{"rendered":"\n
The main aim of the Human Molecular Genetics group is to better understand the genetic and molecular bases of the hereditary monogenic or complex diseases and\/or the immunoinflammatory processes using high throughput strategies, such as genomics, transcriptomics, proteomics as well as functional and structural approaches to characterize clinical and pathological features of rare disorders. Additionally, we aim to develop new molecular\/cellular therapies. We have specific formation in Human Genetics, Biochemistry, Molecular and Cellular Biology related to Biomedicine field. The multidisciplinarity of the group allows us to enrich the experimental focus of our research projects.<\/p>\n
Molecular Genetics of Urogenital Diseases.<\/strong>\u00a0IP: Sara Larriba. This line of research is focused on the understanding of the genetic and epigenetic mechanisms involved in male urogenital disorders. Specifically, one of our projects deals with the analysis of the transcriptome and the tissue gene expression regulation mechanisms in disease. This study is complemented with the identification of new non invasive genetic biomarkers useful for the diagnosis and prognosis of urogenital pathologies.<\/p>\n Molecular bases of the Hereditary diseases: Cystinuria, Diseases associated with mutations in amino acid transporters, Megalencephalic Leukoencephalopathy with subcortical cysts (MLC) and Wolfram syndrome. <\/strong>IP: Virginia Nunes. This research line is focused on: i) the understanding of the renal amino acid reabsortion, ii) the identification of new diseases associated with alterations in the amino acids transport (deafness and cataracts), iii) the determination of new genetic factors that help to establish the molecular bases of the mentioned diseases and searching for possible therapeutical strategies, using knockout mice models as a tool.<\/p>\n Cancer and immune response: Development of new immunosupressors and therapeutic antitumoral agents.<\/strong>\u00a0IP: Merc\u00e8 P\u00e9rez. This line of research is focused on determining the functional and therapeutic effect of the RCAN proteins in the tumor progression and metastasis in triple negative breast cancer. On the other hand, our group identified 6 hits, small non-peptide molecules that mimic the functional effect of RCANs, which are being improved to obtain leads that will be assessed in vivo to determine their immunosuppressive and anti tumour therapeutic efficacy.<\/p>\n Structure and physiopathology of SLC transporters:<\/strong> IP: Ekaitz Errasti Murugarren. This research line is focused on the understanding of Solute carrier (SLC) transporters, from a pathophysiological, functional and structural point of view. Particularly, amino acid transporters (SLC7 family) and choline-like transporters (SLC44 family) are of particular interest as potential therapeutic targets due to their association with neurodevelopmental and sensorineural disorders.<\/p>\n\t\t\t\t\tSelected Publications<\/a>\n\t\t\t\t\t\t\t\t\t\t\tExpand<\/i><\/a>\n\t\t\t\t\t Rullo Tubau J, Bartoccioni P, Llorca O, Errasti Murugarren E, Palacin M. HATs meet structural biology<\/strong>. Curr. Opin. Struct. Biol. 2022;74doi:10.1016\/j.sbi.2022.102389.<\/p>\n S\u00e1nchez Morales A, Bi\u00e7er A, Panagiotopoulos V, Crecente Garcia S, Benaiges C, Bayod S, Lu\u00eds Hern\u00e1ndez J, Busqu\u00e9 F, Matsoukas MT, P\u00e9rez Riba M, Alib\u00e9s R. Design and synthesis of a novel non peptide CN-NFATc signaling inhibitor for tumor suppression in triple negative breast cancer<\/strong>. Eur. J. Med. Chem. 2022;238114514-114514. doi:10.1016\/j.ejmech.2022.114514.<\/p>\n L\u00f3pez Rodrigo O, Bossini Castillo L, Carmona FD, Bassas L, Larriba S. Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia<\/strong>. Reprod. Biomed. Online. 2022;45(2):332-340. doi:10.1016\/j.rbmo.2022.03.035.<\/p>\n Plata Pena L, Lopez Rodrigo O, Bassas L, Larriba S. Experimental validation of seminal miR-31-5p as biomarker for azoospermia and evaluation of the effect of preanalytical variables<\/strong>. Andrology. 2022;doi:10.1111\/andr.13286.<\/p>\n Cerv\u00e1n Mart\u00edn M, T\u00fcttelmann F, Lopes AM, Bossini Castillo L, Rivera Egea R, Garrido N, Lujan S, Romeu G, Santos Ribeiro S, Castilla JA, Carmen Gonzalvo M, Clavero A, Maldonado V, Vicente FJ, Gonz\u00e1lez Mu\u00f1oz S, Guzm\u00e1n Jim\u00e9nez A, Burgos M, Jim\u00e9nez R, Pacheco A, Gonz\u00e1lez C, G\u00f3mez S, Amor\u00f3s D, Aguilar J, Quintana F, Calhaz Jorge C, Aguiar A, Nunes J, Sousa S, Pereira I, Pinto MG, Correia S, S\u00e1nchez Curbelo J, L\u00f3pez Rodrigo O, Mart\u00edn J, Pereira Caetano I, Marques PI, Carvalho F, Barros A, Gromoll J, Bassas L, Seixas S, Gon\u00e7alves J, Larriba S, Kliesch S, Palomino Morales RJ, Carmona FD. Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility<\/strong>. Commun. Biol. 2022;5(1):1220-1220. doi:10.1038\/s42003-022-04192-0.<\/p>\n\t\t\t\t\tSelected Projects<\/a>\n\t\t\t\t\t\t\t\t\t\t\tExpand<\/i><\/a>\n\t\t\t\t\t 21FIS034. Cistinuria: Validaci\u00f3n de un nuevo biomarcador de litiasis de cistina en pacientes y dise\u00f1o de un nuevo tratamiento, basados en moduladores de la litiasis de cistina identificados en modelos de rat\u00f3n<\/strong>. Instituto de Salud Carlos III (ISCIII). Budget: 244420. 2021-2023. PI: NUNES MARTINEZ, VIRGINIA.<\/p>\n 21MAR004. Therapeutical strategies for cystinuria<\/strong>. Fundaci\u00f3 La Marat\u00f3 de TV3 . Budget: 200000. 2021-2024. PI: NUNES MARTINEZ, VIRGINIA.<\/p>\n 20PNJ075. Role of HAT transporter on ILC2 and type II inflammation during obesity and insulin resistance<\/strong>. SIDRA MEDICINE. Budget: 13164. 2020-2023. PI: NUNES MART\u00cdNEZ, VIRGINIA.<\/p>\n\t\t\t\t\tTechnology transfer<\/a>\n\t\t\t\t\t\t\t\t\t\t\tExpand<\/i><\/a>\n\t\t\t\t\tPAT074-Ergothioneine, s-methyl-ergothioneine and uses thereof The group has:<\/p>\n <\/p>\n <\/p>\n Proyectos financiados por el Instituto de Salud Carlos III (ISCIII) y cofinanciados por el Fondo Europeo de Desarrollo Regional (FEDER):<\/em><\/p>\n <\/p>\n Identificaci\u00f3n de nuevos factores pron\u00f3stico y diagn\u00f3stico de patolog\u00edas urogenitales basados en microRNAs en plasma seminal<\/strong><\/p>\n PI15\/00905. 01\/2016-12\/2018. 81.500 \u20ac. IP: Sara Larriba Bartolom\u00e9.<\/p>\n Profundizar en el estudio de los niveles de expresi\u00f3n de miRNAs extracelular en semen y evaluar su utilizaci\u00f3n como biomarcador no invasivo en patolog\u00edas urogenitales. La concentraci\u00f3n de ciertos miRNAs (de manera individual y combinada) son capaces de discernir muestras con tumor y sin tumor con una especifidad y sensibilidad suficiente para el dise\u00f1o de un test con utilidad diagn\u00f3stica.<\/p>\n <\/p>\n <\/p>\n\t\t\t\t\n Human Molecular Genetics Summary The main aim of the Human Molecular Genetics group is to better understand the genetic and molecular bases of the hereditary monogenic or complex diseases and\/or the immunoinflammatory processes using high throughput strategies, such as genomics, transcriptomics, proteomics as well as functional and structural approaches to characterize clinical and pathological features […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":552,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"disabled","ast-breadcrumbs-content":"","ast-featured-img":"disabled","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"publishpress_future_action":{"enabled":false,"date":"2024-05-11 04:28:27","action":"change-status","newStatus":"draft","terms":[],"taxonomy":""},"_links":{"self":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/pages\/2642"}],"collection":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/comments?post=2642"}],"version-history":[{"count":6,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/pages\/2642\/revisions"}],"predecessor-version":[{"id":23920,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/pages\/2642\/revisions\/23920"}],"up":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/pages\/552"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/media?parent=2642"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
\nIP: Virginia Nunes
\nOWNERSHIP: 25% IDIBELL 25% UB 50%CIBERER
\nApplicant: FUNDACI\u00d3 INSTITUT D’INVESTIGACI\u00d3 BIOM\u00c8DICA DE BELLVITGE (IDIBELL); UNIVERSITAT DE BARCELONA; CONSORCIO CENTRO DE INVESTIGACI\u00d3N BIOM\u00c9DICA EN RED, M.P.\nLicense: Urine biomarker and reprofiling drug for cystinuria treatment and\/or relief
\nPI: Dra. Virginia Nunes\n\t\t\t\t\tMore Information<\/a>\n\t\t\t\t\t\t\t\t\t\t\tExpand<\/i><\/a>\n\t\t\t\t\t\n
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\n\t\tNunes Martinez, Virginia\n\t<\/h4>\n
\n\t\t\n\t\tvnunes@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n
\n\t\tPrincipal investigators\n\t<\/h2>\n\t\t\t\t\n
\n\t\tNunes Martinez, Virginia\n\t<\/h4>\n
\n\t\t\n\t\tvnunes@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n\t\t\t\t\n
\n\t\tErrasti Murugarren, Ekaitz\n\t<\/h4>\n\t\t\t\t\n
\n\t\tLarriba Bartolome, Sara\n\t<\/h4>\n
\n\t\t\n\t\tslarriba@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n
\n\t\tRELATED LINKS\n\t<\/h4>\n
\n\t\t\n\t\tCIBERER U730 (CB06\/07\/0069)\n\t\t<\/a>\n\t<\/h4>\n
\n\t\t\n\t\tOrphanet – Wolfram Syndrome\n\t\t<\/a>\n\t<\/h4>\n
\n\t\t\n\t\tWolfram Syndrome – guia cl\u00ednica\n\t\t<\/a>\n\t<\/h4>\n
\n\t\t\n\t\tAlstr\u00f6m Syndrome – guia cl\u00ednica\n\t\t<\/a>\n\t<\/h4>\n
\n\t\t\n\t\tBardet – Biedl Syndrome – guia cl\u00ednica\n\t\t<\/a>\n\t<\/h4>\n
\n\t\t\n\t\tBootstratio application\n\t\t<\/a>\n\t<\/h4>\n
\n\t\tTeam\n\t<\/h2>\n\t\t\t\t\t\t\t\t\t\t\t\tGroup leaders\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tPrincipal investigators\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tPostdoctoral researchers\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tScientific support\t\t\t\t<\/a>\n\t\t\t\t\t\tGroup leaders\n\t\t\t\t\t\t\t\t\t\t\t
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\n\t\tRelated news\n\t<\/h2>\n\t\t\n\t\t\t\t<\/a>\n\t\t\tScientists discover potential biomarkers for male infertility: the composition of microRNAs and their isoforms<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t28\/12\/2023\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tThe natural antioxidant L-Ergothioneine prevents the formation of cystine stones in a murine model of cystinuria<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t20\/07\/2023\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tResearchers validate a microRNA as a biomarker for the diagnosis of azoospermia<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t03\/10\/2022\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tLarge-scale genotyping identifies the molecular cause of two cases of familial globozoospermia<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t10\/06\/2022\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tWe close a 2021 full of science!<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t30\/12\/2021\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tIdentified a possible biomarker for the appearance of stones in cystinuria<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t30\/09\/2021\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tLa Marat\u00f3 will finance with 1.5 million euros 10 IDIBELL projects in rare diseases<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t30\/11\/2020\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\t3rd SLHAM of women scientists of IDIBELL arrives<\/a>\n\t\t\tBy Idibell<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t16\/01\/2020\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tResearchers prove the usefulness of semen miRNAs as non-invasive biomarkers for prostate cancer<\/a>\n\t\t\tBy Idibell<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t26\/09\/2019\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tResearchers identify an amino acid transporter as responsible for the onset of congenital cataracts<\/a>\n\t\t\tBy Idibell<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t21\/06\/2019\t\t\t\t\t\t\t\n\t\t\n\n","protected":false},"excerpt":{"rendered":"