The Molecular Cytogenetics and Genome Editing Unit investigates how structural genomic alterations, particularly oncogene amplifications and chromosomal rearrangements, drive cancer progression, immune evasion, and therapeutic resistance. By combining advanced cytogenetic tools with CRISPR-based genome editing, we develop experimental models that recapitulate tumour-specific genomic architectures and exploit copy-number alterations as therapeutic vulnerabilities. Our work bridges mechanistic cancer biology and translational innovation, aiming to convert genomic instability into precision therapeutic strategies. In parallel, the Unit provides cutting-edge molecular cytogenetics and genome editing platforms to CNIO researchers and collaborators, fostering interdisciplinary research and clinical applications.
Recent publications
Río P, Zubicaray J, Navarro S, Gálvez E, Sánchez-Domínguez R, Nicoletti E, Sebastián E, Rothe M, Pujol R, Bogliolo M, John-Neek P, Bastone AL, Schambach A, Wang W, Schmidt M, Larcher L, Segovia JC, Yáñez RM, Alberquilla O, Díez B, Fernández-García M, García-García L, Ramírez M, Galy A, Lefrere F, Cavazzana M, Leblanc T, García de Andoin N, López-Almaraz R, Catalá A, Barquinero J, Rodríguez-Perales S, Rao G, Surrallés J, Soulier J, Díaz-de-Heredia C, Schwartz JD, Sevilla J, Bueren JA; FANCOLEN-1 gene therapy investigators. (2025).Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials. Lancet 404, 2584-2592. CNIO Publication. Open Access
García García A, Ferrer Aporta M, Vallejo Palma G, Giráldez Trujillo A, Castillo-González R, Calzón Lozano D, Mora Perdiguero A, Muñoz Velasco R, Colina Castro M, de Simone Benito E, Torres-Ruiz R, Rodriguez-Perales S, Dehairs J, Swinnen JV, Garcia-Cañaveras JC, Lahoz A, Montalvo Quirós S, Del Pozo-Rojas C, Luque Rioja C, Monroy F, Herráez-Aguilar D, Alonso Riaño M, Rodríguez Peralto JL, Sánchez-Arévalo Lobo VJ. (2025).Targeting ELOVL6 to disrupt c-MYC driven lipid metabolism in pancreatic cancer enhances chemosensitivity. Nat Commun 16, 1694. CNIO Publication.
Hergueta-Redondo M, Sánchez-Redondo S, Hurtado B, Santos V, Pérez-Martínez M, Ximénez-Embún P, McDowell SAC, Mazariegos MS, Mata G, Torres-Ruiz R, Rodríguez-Perales S, Martínez L, Graña-Castro O, Megias D, Quail D, Quintela-Fandino M, Peinado H. (2025).The impact of a high fat diet and platelet activation on pre-metastatic niche formation. Nat Commun 16, 2897. CNIO Publication.
Aguilar-Garrido P, Velasco-Estévez M, Navarro-Aguadero MÁ, Otero-Sobrino A, Ibañez-Navarro M, Marugal MÁ, Hernández-Sánchez M, Malaney P, Rodriguez A, Benitez O, Zhang X, Aitken MJ, Ortiz-Ruiz A, Megias D, Pérez-Martínez M, Mata G, Gomez J, Lafarga M, Dominguez O, Graña-Castro O, Caleiras E, Ximenez-Embun P, Isasa M, de Andrés PJ, Rodriguez-Perales S, Torres-Ruiz R, Revilla E, García-Martín RM, Azorín D, Zubicaray J, Sevilla J, Sirozh O, Lafarga V, Martinez-Lopez J, Post SM, Gallardo M. (2025).The tumor suppressor HNRNPK induces p53-dependent nucleolar stress to drive ribosomopathies. J Clin Invest 135, e183697. CNIO Publication.
Nieto-Sanchez A, Martinez-Lage M, Puig-Serra P, Carpintero S, Alonso-Yanez A, Ojeda-Walczuk P, Ibañez-Navarro M, Pita G, Moya FJ, Moreno C, Martin MC, Alonso R, Nuñez-Torres R, Sanchez-Arevalo Lobo VJ, Alonso-Guirado L, Malats N, Gonzalez-Neira A, Fernandez L, Roda-Navarro P, Torres-Ruiz R, Rodriguez-Perales S. (2025).Selective genome editing of amplified oncogenes triggers immunogenic cell death and tumor remodeling. Mol Can 25, 21. CNIO Publication.
Zanetti SR, Velasco-Hernandez T, Gutierrez-Agüera F, Díaz VM, Romecín PA, Roca-Ho H, Sánchez-Martínez D, Tirado N, Baroni ML, Petazzi P, Torres-Ruiz R, Molina O, Bataller A, Fuster JL, Ballerini P, Juan M, Jeremias I, Bueno C, Menéndez P (2022).A novel and efficient tandem CD19- and CD22-directed CAR for B cell ALL.. Mol Ther 30, 550-563. CNIO Publication.
Montero-Conde C, Leandro-García LJ, Martínez-Montes ÁM, Martínez P, Moya FJ, Letón R, Gil E, Martínez-Puente N, Guadalix S, Currás-Freixes M, García-Tobar L, Zafon C, Jordà M, Riesco-Eizaguirre G, González-García P, Monteagudo M, Torres-Pérez R, Mancikova V, Ruiz-Llorente S, Pérez-Martínez M, Pita G, Galofré JC, Gonzalez-Neira A, Cascón A, Rodríguez-Antona C, Megías D, Blasco MA, Caleiras E, Rodríguez-Perales S, Robledo M (2022).Comprehensive molecular analysis of immortalization hallmarks in thyroid cancer reveals new prognostic markers. Clin Transl Med 12, e1001. CNIO Publication. Open Access
Álvarez EG, Demeulemeester J, Otero P, Jolly C, García-Souto D, Pequeño-Valtierra A, Zamora J, Tojo M, Temes J, Baez-Ortega A, Rodriguez-Martin B, Oitaben A, Bruzos AL, Martínez-Fernández M, Haase K, Zumalave S, Abal R, Rodríguez-Castro J, Rodriguez-Casanova A, Diaz-Lagares A, Li Y, Raine KM, Butler AP, Otero I, Ono A, Aikata H, Chayama K, Ueno M, Hayami S, Yamaue H, Maejima K, Blanco MG, Forns X, Rivas C, Ruiz-Bañobre J, Pérez-Del-Pulgar S, Torres-Ruiz R, Rodriguez-Perales S, Garaigorta U, Campbell PJ, Nakagawa H, Van Loo P, Tubio JMC. (2021).Aberrant integration of Hepatitis B virus DNA promotes major restructuring of human hepatocellular carcinoma genome architecture. Nat Commun 12, 6910. CNIO Publication. Open Access
Monteagudo M, Martínez P, Leandro-García LJ, Martínez-Montes ÁM, Calsina B, Pulgarín-Alfaro M, Díaz-Talavera A, Mellid S, Letón R, Gil E, Pérez-Martínez M, Megías D, Torres-Ruiz R, Rodriguez-Perales S, González P, Caleiras E, Jiménez-Villa S, Roncador G, Álvarez-Escolá C, Regojo RM, Calatayud M, Guadalix S, Currás-Freixes M, Rapizzi E, Canu L, Nölting S, Remde H, Fassnacht M, Bechmann N, Eisenhofer G, Mannelli M, Beuschlein F, Quinkler M, Rodríguez-Antona C, Cascón A, Blasco MA, Montero-Conde C, Robledo M (2021).Analysis of Telomere Maintenance Related Genes Reveals NOP10 as a New Metastatic-Risk Marker in Pheochromocytoma/Paraganglioma. Cancers 13, 4758. CNIO Publication. Open Access
Open Access