Interacciones genético-ambientales en los trastornos del neurodesarrollo
Líneas de investigación
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Interacciones genético-ambientales en los trastornos del neurodesarrollo
- Modelos celulares in vitro y ex vivo de rasopatías, tales como células madre pluripotenciales, células madre neurales, cultivos primarios neuronales y cultivos organotípicos de rodajas de hipocampo, para estudiar el neurodesarrollo.
- Modelos animales de ratón con mutaciones en las proteínas Ras asociadas a los trastornos de neurodesarrollo (rasopatías) para estudiar la conducta animal relacionada con dichos trastornos, como el desarrollo motor, el comportamiento social y las habilidades cognitivas como la memoria y el aprendizaje.
Proyectos de investigación
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2024-2027 Ministerio de Ciencia e Innovación, Generación de conocimiento, PID2022-136932OB-I00, “Interacciones genético-ambientales como factor de riesgo en la disfunción sináptica asociada a las rasopatías”. IP: Victor Briz (ISCIII). Financiación: 162.500€.
2023-2028 Ministerio de Ciencia e Innovación, Ayuda Ramón y Cajal, RYC2021-031395-I, “Gene-environment interactions as risk factor for neurodevelopmental and cognitive disorders”. IP: Victor Briz (ISCIII). Financiación: 236.350€.
Publicaciones destacadas
Literature review and evaluation of biomarkers, matrices and analytical methods for chemicals selected in the research program Human Biomonitoring for the European Union (HBM4EU)
Sabbioni G, Castaño A, Esteban López M, Göen T, Mol H, Riou M, Tagne-Fotso R. Literature review and evaluation of biomarkers, matrices and analytical methods for chemicals selected in the research program Human Biomonitoring for the European Union (HBM4EU). Environ Int. 169: 107458. 2022.
DOIHuman urinary arsenic species, associated exposure determinants and potential health risks assessed in the HBM4EU Aligned Studies
Buekers J, Baken K, Govarts E, Rodriguez Martin L, Vogel N, Kolossa-Gehring M, Šlejkovec Z, Falnoga I, Horvat M, Lignell S, Lindroos AK, Rambaud L, Riou M, Pedraza-Diaz S, Esteban-Lopez M, Castaño A, Den Hond E, Baeyens W, Santonen T, Schoeters G. Human urinary arsenic species, associated exposure determinants and potential health risks assessed in the HBM4EU Aligned Studies. Int J Hyg Environ Health. 248: 114115. 2023.
DOIA step towards harmonising human biomonitoring study setup on European level: Materials provided and lessons learnt in HBM4EU.
Pack LK, Gilles L, Cops J, Tolonen H, van Kamp I, Esteban-Lopez M, Pedraza-Díaz S, Lacasaña M, Gonzalez Alzaga B, Lermen D, Bartel-Steinbach M, Katsonouri A, Fiddicke U, Castaño A, Kolossa-Gehring, M. A step towards harmonising human biomonitoring study setup on European level: Materials provided and lessons learnt in HBM4EU. Int J Hyg Environ Health. 249. 114118. 2023.
DOIHBM4EU-MOM: Prenatal methylmercury-exposure control in five countries through suitable dietary advice for pregnancy – Study design and characteristics of participants
Katsonouri A, Gabriel C, Esteban López M, Namorado S, Halldorsson TI, Tratnik J, Rodriguez Martin L, Karakoltzidis A, Chatzimpaloglou A, Giannadaki D, Anastasi E, Thoma A, Domínguez-Morueco N, Cañas Portilla AI, Jacobsen E, Assunçao R, Peres P, Santiago S, Nunes C, Pedraza-Diaz S, Iavicoli I, Leso V, Lacasaña M, González-Alzaga B, Horvat M, Sepai O, Castano A, Kolossa-Gehring M, Karakitsios S, Sarigiannis D. HBM4EU-MOM: Prenatal methylmercury-exposure control in five countries through suitable dietary advice for pregnancy – Study design and characteristics of participants. Int J Hyg Environ Health. 252. 114213. 2023.
DOIApplication of human biomonitoring data to support policy development, raise awareness and environmental public health protection among countries within the HBM4EU project.
Ubong D, Stewart L, Sepai O, Knudsen LE, Berman T, Reynders H, Van Campenhout K, Katsonouri A, Van Nieuwenhuyse A, Ingelido AM, Castaño A, Pedraza-Díaz S, Eiríksdóttir ÁV, Thomsen C, Hartmann C, Gjorgjev D, De Felip E, Tolonen H, Santonen T, klanova J, Norström K, Kononenko L, Silva MJ, Uhl M, Kolossa-Gehring M, Apel P, Jõemaa M, Jajcaj M, Estokova M, Luijten M, Lebret E, von Goetz N, Holcer NJ, Probst-Hensch N, Cavaleiro R, Barouki R, Tarroja E, Balčienė RM, Strumylaite L, Latvala S, Namorado S, Szigeti T, Ingi Halldorsson T, Olafsdottir K, Wasowicz W, Contributors: Viegas S, Alvito P. Application of human biomonitoring data to support policy development, raise awareness and environmental public health protection among countries within the HBM4EU project. International Journal of Hygiene and Environmental Health. 251. 114170. 2023.
DOIIdentification of Real-Life Mixtures Using Human Biomonitoring Data: A Proof of Concept Study
Rodriguez Martin L, Ottenbros I, Vogel N, Kolossa-Gehring M, Schmidt P, Řiháčková K, Juliá Molina M, Varea-Jiménez E, Govarts E, Pedraza-Diaz S, Lebret E, Vlaanderen J, Luijten M. Identification of Real-Life Mixtures Using Human Biomonitoring Data: A Proof of Concept Study. Toxics. 11. 204. 2023
DOIFinal report, ongoing key comparison BIPM.QM-K1, ozone at ambient level, comparison with ISCIII, May 2023.
Viallon, Joële, Idrees, Faraz , Moussay Philippe, Wielgosz, Robert, Nunez Corcuera, Beatriz, Garcia Dos Santos-Alves, Saul. (2023). Final report, ongoing key comparison BIPM.QM-K1, ozone at ambient level, comparison with ISCIII, May 2023. Metrologia. 60. 08025.
DOIA participatory scenario building application for greener, smarter, and healthier cities: the case of madrid, Spain
Nunez Corcuera, Beatriz , Navarro-Ligero, Miguel, Boldo, Elena, Sarigiannis, Denis, Gotti, Alberto, Garcia, Dos Santos-Alves, Saul , Soria-Lara, Julio. (2022). A PARTICIPATORY SCENARIO BUILDING APPLICATION FOR GREENER, SMARTER, AND HEALTHIER CITIES: THE CASE OF MADRID, SPAIN. Fresenius Environmental Bulletin. 31. 8355-8360.
Multi-sensor data collection for personal exposure monitoring: icarus experience
Kocman, David & Kanduč, Tjaša & Novak, Rok & Robinson, Johanna & Horvat, Milena & Mikeš, Ondřej & Degrendele, Céline & Sanka, Ondrej & Vienneau, Danielle & Flueckiger, Benjamin & Gotti, Alberto & K.visave, Jaideep & Bugnoni, Francesca & Persico, Marco & Garcia Dos Santos-Alves, Saul & Nunez Corcuera, Beatriz & Maggos, Thomas & Stamatelopoulou, Asimina & Pardali, Demetra & Sarigiannis, Dimosthenis. (2022). MULTI-SENSOR DATA COLLECTION FOR PERSONAL EXPOSURE MONITORING: ICARUS EXPERIENCE. Fresenius Environmental Bulletin. 31. 8297-8302.
El proyecto H2020 URBANOME: calidad del aire, salud y participación ciudadana
Beatriz Nuñez Corcuera, Joaquin Lozano, Rebeca Ramis, Jaime Fernandez-Pampillon, Javier Fernández y Saúl García dos Santos-Alves. El proyecto H2020 URBANOME: calidad del aire, salud y participación ciudadana (2024) REVISTA DE SALUD AMBIENTAL. Volumen XXIV-Especial Congreso.
NPAHs and OPAHs in the atmosphere of two central European cities: Seasonality, urban-to-background gradients, cancer risks and gas-to-particle partitioning.
Degrendele, Céline & Kanduč, Tjaša & Kocman, David & Lammel, G. & Cambelová, Adriana & Garcia Dos Santos-Alves, Saul & Horvat, Milena & Kukucka, Petr & Šmejkalová, Adéla & Mikeš, Ondřej & Nunez Corcuera, Beatriz & Přibylová, Petra & Prokeš, Roman & Sanka, Ondrej & Maggos, Thomas & Sarigiannis, Denis & Klanova, Jana. (2021). NPAHs and OPAHs in the atmosphere of two central European cities: Seasonality, urban-to-background gradients, cancer risks and gas-to-particle partitioning. Science of The Total Environment. 793. 148528.
DOIParticulate Matter Exposure during Pregnancy and Childhood Leukemia Incidence.
Sanz Olea, E.; Ojeda Sanchez, C.; Guxens, M.; Cañete, A.; Romaguera, E.P.; Gómez-Barroso, D.; García-Pérez, J.; Nuñez-Corcuera, B.; Ortega-García, J.A.; Ramis, R. Particulate Matter Exposure during Pregnancy and Childhood Leukemia Incidence. Atmosphere 2024, 15, 751.
DOIFinal report, on-going key comparison BIPM.QM-K1, ozone at ambient level, comparison with ISCIII, February 2021
Viallon, Joële & Idrees, Faraz & Moussay, Philippe & Wielgosz, Robert & Nunez Corcuera, Beatriz & Miguel, Jose & Morillo, Pilar. (2021). Final report, on-going key comparison BIPM.QM-K1, ozone at ambient level, comparison with ISCIII, February 2021. Metrologia. 58. 08021.
DOINew approach methods to improve human health risk assessment of thyroid hormone system disruption–a PARC project. Frontiers in Toxicology
Louise Ramhøj, Marta Axelstad, Yoni Baert, Ana I. Cañas-Portilla, Frédéric Chalmel, Lars Dahmen, Antonio De La Vieja, Bertrand Evrard, Ann-Cathrin Haigis, Timo Hamers, Kim Heikamp, Henrik Holbech, Patricia Iglesias-Hernandez, Dries Knapen, Lorna Marchandise, Jane E. Morthorst, Nikolai Georgiev Nikolov, Ana C. V. E. Nissen, Michael Oelgeschlaeger, Kostja Renko, Vera Rogiers, Gerrit Schüürmann, Evelyn Stincken, Mette H. Stub, Monica Torres-Ruiz, Majorie Van Duursen, Tamara Vanhaeck, Lucia Vergauwen, Eva Bay Wedebye, Terje Svingen. New approach methods to improve human health risk assessment of thyroid hormone system disruption–a PARC project. Frontiers in Toxicology. 2023
DOIEffects of nanomolar methylmercury on developing human neural stem cells and zebrafish Embryo
Torres-Ruiz, M; De Alba, M; Coronel, R; Liste, I; Cañas, AI; Gonzalez, M. 2024. Effects of nanomolar methylmercury on developing human neural stem cells and zebrafish Embryo. Food Chem Toxicol. 188:114684.
DOINew approach methods to assess developmental and adult neurotoxicity for regulatory use: a PARC work package 5 project.
Tal T, Myhre O, Fritsche E, ….., Torres-Ruiz M, and Bartmann K (2024) New approach methods to assess developmental and adult neurotoxicity for regulatory use: a PARC work package 5 project. Front. Toxicol. 6:1359507.
DOIMolecular effects of polystyrene nanoplastics on human neural stem cells
Raquel Martin-Folgar, Mª Carmen González-Caballero, Mónica Torres-Ruíz, Ana I. Cañas-Portilla, Mercedes de Alba-González, Isabel Liste, Mónica Morales. Molecular effects of polystyrene nanoplastics on human neural stem cells PLOS ONE, enero 2024.
DOIMolecular effects of polystyrene nanoplastics toxicity in zebrafish embryos (Danio rerio)
Raquel Martin-Folgar, Mónica Torres-Ruiz, Mercedes de Alba, Ana I. Cañas-Portilla, Mª Carmen González, Mónica Morales. Molecular effects of polystyrene nanoplastics toxicity in zebrafish embryos (Danio rerio) Chemosphere, 2023 Jan;312(Pt 1):137077.
DOIToxicity of nanoplastics for zebrafish embryos, what we know and where to go next.
Torres-Ruiz,M.; De la Vieja,A.; De Alba Gonzalez,M.; Esteban Lopez,M.; Castaño,A.; Cañas Portilla, A.I.; 2021. Toxicity of nanoplastics for zebrafish embryos, what we know and where to go next. Science of the Total Environment 797: 149125.
DOIApplicability of Food Monitoring Data for Assessing Relative Exposure Contributions of Pyrethroids in Retrospective Human Biomonitoring Risk Estimations.
2. de Alba-Gonzalez, M., González-Caballero, M. C., & Tarazona, J. V. (2024). Applicability of Food Monitoring Data for Assessing Relative Exposure Contributions of Pyrethroids in Retrospective Human Biomonitoring Risk Estimations. Toxics, 12(1), 24.
DOIInformación adicional
Nuestro objetivo principal es estudiar las interacciones entre determinados factores genéticos y medioambientales, como son las proteínas Ras y los contaminantes ambientales, como factores de riesgo en los trastornos del neurodesarrollo.
Para ello, emplearemos varias aproximaciones metodológicas, desde la biología molecular y celular a la electrofisiología, la histología y el estudio de la conducta animal.
Nuestra hipótesis es que las condiciones genéticas que favorecen la activación basal de la vía Ras-MAPK (como es el caso de las rasopatías) pueden tener una mayor susceptibilidad a la exposición a contaminantes ambientales.