Services

Service of chromosomal fragility, mutagenesis and toxicogenetics

Presentation

The Service Laboratory of Chromosomal Fragility, Mutagenesis and Toxicogenetic Services (LPS-Clastogen) of IR Sant Pau offers public or private, national and international centres and companies a highly specialized platform in studies of chromosomal fragility, with important knowledge on mutagenesis techniques, chromosomal fragility assays, telomere length analysis, toxicogenetics and functional analysis of mutations.

Services

The Chromosomal Fragility, Mutagenesis and Toxicogenetics Service Laboratory (LPS-Clastogen) of IR Sant Pau offers public or private, national and international centres and companies a highly specialized platform in chromosomal fragility studies, with important knowledge on mutagenesis techniques, chromosomal fragility assays, telomere length analysis, toxicogenetics and functional analysis of mutations.

We currently receive samples from more than 100 national and international institutions (USA, Europe and Australia) and we also collaborate with public and private companies and hospitals from around the world that need to incorporate studies of chromosomal fragility and toxicogenetics in the development of their products or their research. This includes companies and hospitals involved in clinical trials of conventional drugs and small molecules as well as advanced therapies such as gene therapy. Many of the studies are to evaluate chromosomal fragility upon clinical suspicions of Fanconi anemia.

It is a service laboratory that has staff accredited by the Spanish Society of Human Genetics and that, as a result of its research, has had to implement techniques for the study of chromosomal fragility, the study of telomere length and for functional analysis of mutations in genes involved in DNA repair and genomic stability maintenance such as BRCA1 or BRCA2.

It deals with highly qualified and specialized personnel in functional studies required in Fanconi anemia, Bloom syndrome, hereditary breast and ovarian cancer and other related syndromes, and synthetic lethality assays as well as conventional toxicogenetic studies to see the mutagenic potential of drugs in development.

Responsibles

Contact mail: jsurralles@santpau.cat

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Jordi Surralles Calonge

Scientific Responsible

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Roser Pujol Calvet

Technical Responsible

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Ana Molina Romero

Manager Responsible

Experience and Trajectory

Publications (selection of 10 in the last 10 years):

  • Ramírez MJ, Pujol R… and Surrallés* J (2025) Prognostic significance of mutation type and chromosome fragility in Fanconi anemia. Am J Hematol 100(2):272-284. (IF 10,1) (22/22)
  • Río P, Zubicaray J, Navarro S, … Surrallés J, Soulier J, Díaz-de-Heredia C, Schwartz JD, Sevilla J, Bueren (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(10471):2584-2592 (IF 98,0) (33/39):
  • Webster A., Sanders M.A.,….Surrallés J., … Campbell P.J.,  Smogorzewska A. (2022). Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer. Nature. 612(7940):495-502. (IF 69.5) (30/47)
  • Ramírez MJ, Pujol R, Trujillo-Quintero JP et al…, and Surrallés* J (2025) Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients. Am J Hematol. 2021;1–11 (IF 10,1) (67/67)
  • Montanuy H, Martínez-Barriocanal A, Casado JA, et al… and  Surrallés* J. Gefitinib and afatinib show potential efficacy for Fanconi anemia-related head and neck cancer. Clinical Cancer Res. 26(12):3044-3057 (IF: 12.5) (17/17): 
  • Río P, Navarro S, Wang W et al…, Surrallés J…and Bueren JA. Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia. Nature Med. 25(9):1396-1401(IF: 30,64). (32/37). 
  • Hernández G, Ramirez MJ, Minguillón J, et al… and Surrallés* J (2018) Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1. Nature Comm 9(1):967 (IF: 14.9) (26/26). 
  • Bogliolo M, Bluteau D, Lespinasse J, et al…and Surrallés* J. Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia. Genet Med. 2018 Apr;20(4):458-463. (IF: 9,93) (10/10)
  • Segui, N, *Mina LB, Lázaro C et al…, Surrallés J, and Valle L(2015) Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair, Gastroenterology. Sep;149(3):563-6. (IF:22.682) (31/32). Trujillo JP, Mina LB, Pujol R et al... and Surrallés* J (2012) On the role of FAN1 in Fanconi anemia. Blood. 2012 Jul 5;120(1):86-89. (IF: 23.629) (9/9).
  • Bogliolo M., Schuster B., Stoepker C. et al... Detlev Schindler D. and Surrallés* J. Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi anemia. Am. J. Hum. Genet. 2013; 92, 1-7. (IF: 11.025) (22/22). Castellà M, Pujol R, Callén R, et al…and Surrallés* J. (2011) Origin, functional role and clinical impact of Fanconi anemia FANCA mutations. Blood 117:3759-69. (IF: 23.629) (32/32)

Research projects (last 10 years):

  • Repurposing afatinib for Fanconi Anemia patients with HNSCC. Academic Clinical Trials Call, Spanish Ministry of Innovation and Science, ISCIII. Jan 2023-Des2025. PI Jordi Surrallés, co-PI Georgia Anguera. 396.101 euros.
  • Genómica funcional: desarrollo e implementación de una plataforma para el estudio de casos de cáncer hereditario sin resolver. Proyectos de Investigación de Medicina Personalizada de Precisión de la Acción Estratégica en Salud 2021-2023, bajo el PERTE para la Salud de Vanguardia y con cargo a los fondos europeos del Plan de Recuperación, Transformación y Resiliencia. PMP22/00064. PI of Sant Pau Hospital Research Institute: Jordi Surrallés. Total granted: 3.179.990,00 €
  • Valorization and proof of concept of an inhibitor of the Fanconi/BRCA DNA repair pathway for cancer treatment by synthetic lethality. Proof of Concept Call by the Spanish Ministry of Science and Innovation PDC2022-133233-100. Jan 2023-Des2025. PI Jordi Surrallés. 149.500 euros.
  • Precision Medicine in Fanconi Anemia: drug screening to identify a mutation specific drug. Collaborative Projects “Plan Complementario Biotecnologia Aplicada a la Salud Call, funded by Next Generation EU, Spanish Ministry of Science and Innovation and Generatilitat de Catalunya. Project reference G7180. Jan2023-Des2024. PI Jordi Surrallés. 178.650 euros. 
  • Infraestructura de Medicina de Precisión asociada a la Ciencia y Tecnología (IMPaCT) de la Acción Estratégica en Salud 2017-2020. Resolución de la Dirección del Instituto de Salud Carlos III. 2020-2024. PI of Sant Pau Hospital Research Institute: Jordi Surrallés. Total granted: 7.249.990,00 €
  • The Fanconi anemia/BRCA pathway: Genomic medicine and advanced therapies. (FABRAT) Ref. PID2021-122411OB-I00. Proyectos de Generación de Conocimiento 2021. Modalidad: Investigación Orientada Tipo B. Ministerio de Ciencia e Innovación. set.2022-set.2025. IP Jordi Surrallés. 417.000 euros.
  • The mechanism of synthetic lethality between BRCA1/2 and Fanconi anaemia E3 ligase activity.2019-2022. Grant number - GNT1156343. Funding agency The (Australian) National Health and Medical Research Council (NHMRC). 493.739 euros. 
  • Gefitinib/Afatinib therapy for Head and Neck Squamous Cell Carcinomas in Fanconi anemia. Fanconi Anemia Research Fund USA. Council to Focus and Accelerate Research (CFAR) Grant. 2019-2020. 100.000 US$. 
  • La ruta anemia de Fanconi/BRCA: investigación genética y terapéutica (Ref. RTI2018-098419-B-I00). Programa Estatal de I+D+i Orientada a los Retos de la Sociedad. Ministerio de ciencia, innovación y universidades. Conv.2018 (2019-2021). 314.600 €.
  • Drug screening and repurposing in Fanconi anemia therapeutics. Fanconi Anemia Research Fundation (FARF) USA. 2016-2018. 144.275 €
  • Reparación del DNA y anemia de Fanconi : Investigación genética y aplicaciones terapéuticas (REPAIR-FANC). SAF2015-64152-R. Convocatoria Ayudas a proyectos I+D+I, Programa Estatal de Investigación, Desarrollo e Innovación orientada a los Retos de la sociedad. Ministerio de Economía y Competitividad. 2016-2018. 278.300 €.
  • EUROFANCOLEN. Phase I/II Gene therapy trial of Fanconi anemia patients with a new Orphan Drug consisting of a lentiviral vector carrying the FANCA gene: A Coordinated International Action. European Commission. 2012-2018. Ref. HEALTH-F5-2012-305421. Presupuesto grupo Surrallés 395.637 €.
  • Regenerative medicine for Fanconi anemia: generation of disease-free patient-specific iPS cells, and iPSC-derived hematopoietic progenitors and platelets. Fundació Marató TV3 (convocatoria 2012) Ref. 464/C/2012. 2013-2015. Presupuesto global 400.000 euros. Presupuesto Grupo Surrallés: 100.000 €.
  • Fanconi anemia: genetic research and therapeutic aplications (FANC-GEN-TE). SAF2012-31881.Convocatoria de ayudas de Proyectos de Investigación Fundamental no orientada, Ministerio de Economía y Competitividad. 2013-2015.  304.200 €.
  • ICREA Academia. Fundació Institut Català de Recerca i Estudis Avançats. Awardee: Dr. Jordi Surralles. Calls 2008 (2009-13), 2013 (2014-18) 2018 (2019-2023), and 2023 (2024-2028). 850.000 €.
     

Equipment

Team involved in providing the service:

  • Gas extraction cabins
  • Centrifuges
  • Cytogenetic camera
  • Flow hub
  • Robotic microscope with metaphase finder and capture (Metasystems)
  • Epifluorescence microscope