Skip to main content

Josep Roma Castanyer

Sóc bioquímic i em dedico a la recerca en càncer infantil. Diàriament cerco noves dianes terapèutiques per als càncers pediàtrics i nous avenços en la personalització del tractament per a pacients d'alt risc. Tinc la convicció que la nostra investigació no només ha de donar lloc a publicacions científiques sinó que ha de conduir també al desenvolupament de nous compostos terapèutics i a una personalització de la teràpia que puguin beneficiar els pacients pediàtrics amb càncer.

Institutions of which they are part

Main researcher
Childhood Cancer and Blood Disorders
Vall Hebron Institut de Recerca

Josep Roma Castanyer

Institutions of which they are part

Main researcher
Childhood Cancer and Blood Disorders
Vall Hebron Institut de Recerca

Sóc bioquímic i em dedico a la recerca en càncer infantil. Diàriament cerco noves dianes terapèutiques per als càncers pediàtrics i nous avenços en la personalització del tractament per a pacients d'alt risc. Tinc la convicció que la nostra investigació no només ha de donar lloc a publicacions científiques sinó que ha de conduir també al desenvolupament de nous compostos terapèutics i a una personalització de la teràpia que puguin beneficiar els pacients pediàtrics amb càncer.

Em vaig llicenciar en Bioquímica a la Universitat de Barcelona l'any 1996. Vaig defensar la meva tesi doctoral a la Universitat Autònoma de Barcelona l'any 2003, tesi que va versar sobre l'estudi dels mecanismes moleculars de la regeneració muscular en les distròfies musculars, en el grup de Neurologia pediàtrica de l'Hospital Vall d'Hebron.
Després d'una estada post-doctoral a Filadèlfia (Children's Hospital of Philadelphia, UPENN) dedicada també a l'estudi del teixit muscular, vaig centrar la meva atenció al càncer, amb especial èmfasi en el càncer que s'origina a partir de cèl·lules precursores de múscul, un càncer infantil anomenat rabdomiosarcoma.
Actualment, i des de 2004, sóc l'investigador principal del laboratori de Sarcomes al Vall d'Hebron Institut de Recerca (VHIR) en el Grup de Recerca Translacional en el Càncer de la Infància i l'Adolescència. Actualment les meves línies d'investigació principals se centren en la caracterització del paper de les vies embrionàries (Notch, Wnt i Hedgehog) en el rabdomiosarcoma, el sarcoma de teixit tou més comú en la població pediàtrica.
L'objectiu final de la meva investigació és traduir el coneixement molecular generat al laboratori en noves teràpies moleculars per millorar la supervivència i la qualitat de vida del pacient oncològic pediàtric.

Research lines

Laboratory of Soft Tissue Sarcomas

Sarcoma Laboratory (Human Team)

Head of Sarcoma Laboratory

Josep Roma, PhD

Head of clinical service and scientific coordinator:

Lucas Moreno, MD, PhD

Post-doctoral Researchers

Gabriel Gallo-Oller, PhD

Pre-doctoral Researchers

Patricia Zarzosa

Natàlia Navarro

Guillem Pons

Julia Sansa

Lorena Valero


Ainara Magdaleno

Research strategy and scope

Sarcomas originate in cells of mesodermal origin which, in normal conditions, end up forming some of the supporting tissues of the body, such as muscles, bones, tendons, fat, lymphatic vessels, blood vessels, nerves and joints. Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in childhood, being the third most common extracranial solid tumour in children. This sarcoma accounts for approximately 5% of all malignant tumours in children and adolescents, with an annual incidence of 5.3 cases per million children under the age of 15. Approximately 65% ??of RMS cases are diagnosed in children under 6 years of age, with a lower incidence between 10 and 14 years of age and an increase in the number of cases in adolescents between 15 and 19. Currently, the survival rate of RMS has improved to around 70%. However, patients with metastatic RMS have 5-year disease-free survival as low as 30%. Therefore, mortality rates for RMS are still improvable, particularly in metastatic patients. For this reason, new therapeutic modalities are needed, especially for cases that still fail to respond adequately to conventional treatments and eventually die due to disease progression. Therefore, it is vital to strengthen research in this field, especially for cases refractory to conventional therapies.

Our research is focused on finding new molecular therapeutic targets and biomarkers based on knowledge of the biology of paediatric sarcomas. Our group has identified and continues to identify new molecular targets in soft tissue sarcomas (Notch, Hedgehog, miRNAs, pro-metastatic proteins, etc…) and the identification of biomarkers (tumour-specific cfDNAs in liquid biopsies). The experience of the group in recent years has permitted the identification of new potential targets that have entered the phase of drug development. In this stage, we have active collaborations with biotechnological industries in order to develop novel small molecules able to inhibit pro-oncogenic processes such as invasion and proliferation with the aim of providing patients with alternative and more specific biological evidence-based therapies. We are convinced that well-directed research not only has to spawn scientific publications but should also lead to the development of new therapeutic compounds or biomarkers that may directly benefit patients and the launch of new biotechnological products on the market.

Main competitive projects granted in the last years:

COMRDI15-1-0014 (ACCIÓ/FEDER) - IP: Josep Roma.  AMMIC NEXTHEALTH COMMUNITY – Acceleradora de malalties minoritàries de Catalunya. From 2016 to 2019. Amount granted: 281,000€ (Total consortium 2.4M €).

Summary: This project consists of a network of high-technology companies and academic research centres, who act as an accelerator in the development of therapeutic solutions from early discovery to clinical stages. This integration of organisations will lead to more effective development of this type of solution and overcome difficulties and barriers of the environment thanks to collaboration, knowledge exchange and sharing of resources. This project is divided into two lines of research:

• New target development: Discovery and development of new therapeutic drugs and solutions for the treatment of rare diseases (such as paediatric cancer), from the stages of discovery of new molecules to the early stages of efficacy in the clinical setting.

• Personalised medicine and liquid biopsy: The development of genetic and epigenetic analysis tools as well as new screening platforms, which aid the research of the specific DNA alterations to be applied in the clinical setting for the benefit of pediatric cancer patients via selection of the best option for each patient (personalised medicine). This line of research includes also the follow-up of specific cell-free DNAs to evaluate the tumour burden in liquid biopsies with the aim of evaluating response to therapies and predicting relapses.

RTC-2017-6037 (Ministerio de ciencia e Innovación) – IP: Josep Roma. Desarrollo pre-clínico regulatorio de nuevos candidatos a fármacos oncológicos From 2018 to 2020. Amount granted: 60,000€.

El proyecto PRECLINONCO persigue como principal objetivo seleccionar entre 1 y 3 nuevos candidatos clínicos a fármaco oncológico de entre un grupo de aproximadamente 20 nuevas moléculas que ya han demostrado eficacia in vitro en las indicaciones tumorales sólidas de pulmón, páncreas y riñón en adultos, y en rabdomiosarcoma pediátrico. Para ello, será imprescindible explorar en profundidad su eficacia, toxicidad, farmacocinética, farmacodinamia y manufacturabilidad necesarios para  priorizar las moléculas de partida y situar en el estadio preclínico regulatorio al candidato mejor posicionado.

CFP Kick cancer (ITCC2017) - IP: Soledad Gallego and Josep Roma. Pilot study to evaluate use of liquid biopsies in clinical and preclinical assessment of rhabdomyosarcoma disease burden. From 2018 to 2020. Amount granted: 180,000€.

Summary: There is an unmet clinical need to improve the assessment of disease burden and response to treatment in rhabdomyosarcoma to improve patient management and outcome. This pilot study aims to demonstrate the ability to detect and quantify cell-free tumour DNA in liquid biopsies from RMS patients.

For this purpose, tumour-specific mutations and translocation breakpoints are defined for each patient and analysed in blood samples via established and co-ordinated processes to permit patient follow-up. The main two goals of this project are:

Quantify circulating cell-free tumour cfDNA levels in plasma and in bone marrow. Results will be compared with clinical outcome and imaging results.

Compare results of plasma analyses in treated and untreated RMS mouse models, potentially capitalising on amplified tumour genes for preclinical monitoring.

Results are expected to justify sample collection and more extensive assessment in the next international clinical trial for Frontline and Relapse RMS (FaR-RMS) through the European paediatric and Soft tissue Study Group (EpSSG) in partnership with ITCC (Innovative Therapies for Children with Cancer).

PI18/00398 (AES ISCIII) - IP: Josep Roma. Innovative strategies for Hedgehog pathway inhibition as therapeutic target in rhabdomyosarcoma. From 2019 to 2021. Amount granted: 87,000€.

Summary: In this project we propose the study of some of the components of the Hedgehog pathway as a starting point for developing new molecular-specific therapies, with the strategy of inhibiting ligand binding with its classical Patched receptor and the much less studied Hedgehog co-receptors. The general philosophy of the project is to benefit from the knowledge generated from our previous basic research in order to translate it – with the indispensable help of the biotechnological Industry – into more effective therapies by attacking a pathway (Hedgehog) that plays a central role in rhabdomyosarcoma progression given its capability to activate proliferation and metastasis and, on the other hand, evade apoptosis. The proposed inhibition strategies and drugs are totally innovative, as there are no available therapies directed at these specific targets, which confers on them high potential as a complement to the current therapies.

54/032/201937 (Fundació La Marató de TV3)IP and coordinator: Josep Roma. Liquid biopsy in pediatric sarcomas: deciphering the predictive potential of circulating tumor DNA and tumor-derived exosomes for early relapse detection. From 2021 to 2023. Amount granted: 300,000€

Summary: Sarcomas constitute a wide family of cancers, including rhabdomyosarcoma (RMS), non-RMS soft-tissue sarcomas, osteosarcoma and Ewing’s sarcoma. Despite their high degree of malignancy and given their high complexity and biological variability, sarcomas have historically been poorly studied compared to the most common cancers. Currently, only assessment by imaging techniques (NMR, PET, etc.) is accepted as sufficient evidence for starting a second-line therapy. The main limitation of these techniques is that they require a relatively large tumour size and knowledge of its location. No molecular methods that could be incorporated into clinical practice to advance the diagnosis of relapses in these diseases are currently available. Being able to do so in the future would be a breakthrough for patients who are not cured with first-line therapy. Thanks to the great progress made in massive sequencing in recent years, infinitesimal amounts of tumour-derived DNA circulating in blood (ctDNA) can be detected, and therefore, the presence of these fragments can be used as very early and sensitive biomarkers to allow very early detection of relapses. The same strategy can be attempted using exosomes, small structures released by cells that can travel through blood. If we are able to detect and measure specifically the exosomes emitted by tumours, we can assess whether a cancer is in progression long before image analysis can do so. Early detection of ctDNA and/or tumour-derived exosomes could trigger alarms some time before, thus allowing intensification of follow-up and even initiating a second-line treatment, with the obvious impact this may have on survival rates in the patients.

PI21/00640 (AES ISCIII) - IP: Josep Roma. Development of a new therapeutic target with high anti-oncogenic potential in childhood sarcomas: the pharmacological blockade of the Hedgehog co-receptor CDO. From 2022 to 2024. Amount granted: 120.000€

Summary:  Survival rates in paediatric neoplasms have improved considerably in recent decades with an overall survival close to 80% in developed countries. However, some of the most common solid tumors, such as soft tissue or bone sarcomas, still show an adverse prognosis in a high percentage (close to 40%) of patients. Given the particularities of childhood cancers, identifying the molecules responsible for cancer progression may contribute to the advancement of new targeted therapies specially designed for these tumors. The present project stem from previous work by our group on the oncogenicity of the Hedgehog pathway in rhabdomyosarcoma (RMS) and explores one of its most interesting and innovative targets: the CDO co-receptor. After studying this co-receptor in recent years, we have been able to show that it is a target with exceptional anti-oncogenic potential. For this reason, we plan to deepen its study at the molecular level, address structural improvements of the inhibitor compound and assess its possible applicability to the treatment of childhood sarcomas with the generation of several animal models. The philosophy of the project is to start from basic biological knowledge to be able to translate it - with the indispensable help of the Biotechnology Company - into an improvement of future therapies by attacking a pathway that plays a central role in tumor progression in sarcomas, such as it is the Hedgehog pathway. The inhibition strategy proposed here has a high translational potential and is highly innovative, since there are no therapies directed against this specific target, not even in adult cancers.

PMP21/00073 (Ministerio de ciencia e innovación/NextGenerationEU - IP: Lucas Moreno. SEHOP-PENCIL study- Personalised medicine for Cancer in Children in Spain. From 2022 to 2026. Amount granted: 1.101.000€

Summary: Childhood cancer remains a challenge for our society with an unacceptable number of children dying from disease recurrence or suffering sequelae from intensive therapy. Incorporating high level Personalised Medicine (PerMed) in standard treatment of childhood cancer offers a unique opportunity to improve survival and reduce morbidities for all children. The PENCIL project by the Spanish Society of Paediatric Haematology and Oncology has four major objectives:  1) To implement a nation-wide sequencing program offering access to next generation sequencing (NGS) panels at the time of diagnosis for high-risk cancers, whole exome/whole-genome sequencing (WES/WGS) and RNASeq at relapse, germline NGS panel or WGS to identify cancer predisposition syndromes and DNA methylation profiling for CNS tumours and sarcomas. 2) To develop tools to facilitate access to PerMed to all patients across Spain, by creating a network of clinicians and genomic hubs and molecular tumour boards. 3) To evaluate the implementation of PerMed into routine care for childhood cancer including cost-effectiveness and clinical outcomes. 4) To develop novel technologies that will overcome current limitations of diagnostic and surveillance approaches, such as liquid biopsy. The incorporation of PerMed into routine care will lead to improved diagnostic and prognostic information at diagnosis, increased access to novel targeted therapies at relapse and early identification and intervention on cancer predisposition syndromes for patients in all autonomous regions of Spain, resulting in major benefits for our society.

10 selected publications on Paediatric Sarcomas:

1 - Dickkopf-1 Inhibition Reactivates Wnt/â-Catenin Signaling in Rhabdomyosarcoma, Induces Myogenic Markers In Vitro and Impairs Tumor Cell Survival In Vivo. Giralt I, Gallo-Oller G, Navarro N, Zarzosa P, Pons G, Magdaleno A, Segura MF, Sábado C, Hladun R, Arango D, Sánchez de Toledo J, Moreno L, Gallego S, Roma J. Int J Mol Sci. 2021;22(23):12921. PMID: 34884726.

2 - Dickkopf Proteins and Their Role in Cancer: A Family of Wnt Antagonists with a Dual Role. Giralt I, Gallo-Oller G, Navarro N, Zarzosa P, Pons G, Magdaleno A, Segura MF, Sánchez de Toledo J, Moreno L, Gallego S, Roma J. Pharmaceuticals. 2021;14(8):810. PMID: 34451907.

3 - Sequential combinations of chemotherapeutic agents with BH3 mimetics to treat rhabdomyosarcoma and avoid resistance. Alcon C, Manzano-Muñoz A, Prada E, Mora J, Soriano A, Guillén G, Gallego S, Roma J, Samitier J, Villanueva A, Montero J. Cell Death Dis. 2020;15;11(8):634. PMID: 32801295.

4 - miRNA-7 and miRNA-324-5p regulate alpha9-Integrin expression and exert anti-oncogenic effects in rhabdomyosarcoma. Molist C, Navarro N, Giralt I, Zarzosa P, Gallo-Oller G, Pons G, Magdaleno A, Moreno L, Guillén G, Hladun R, Garrido M, Soriano A, Segura MF, Sánchez de Toledo J, Gallego S, Roma J. Cancer Lett. 2020;477:49-59. PMID: 32142919.

5 - Clonal dynamics in osteosarcoma defined by RGB marking. Gambera S, Abarrategi A, González-Camacho F, Morales-Molina Á, Roma J, Alfranca A, García-Castro J. Nat Commun. 2018;9(1):3994. PMID: 30266933.

6 - Ligand-dependent Hedgehog pathway activation in rhabdomyosarcoma: the oncogenic role of the ligands. Almazán-Moga A, Zarzosa P, Molist C, Velasco P, Pyczek J, Simon-Keller K, Giralt I, Vidal I, Navarro N, Segura MF, Soriano A, Navarro S, Tirado OM, Ferreres JC, Santamaria A, Rota R, Hahn H, Sánchez de Toledo J, Roma J, Gallego S. Br J Cancer. 2017;117(9):1314-1325. PMID: 28881358.

7 - Hedgehog pathway inhibition hampers sphere and holoclone formation in rhabdomyosarcoma. Almazán-Moga A, Zarzosa P, Vidal I, Molist C, Giralt I, Navarro N, Soriano A, Segura MF, Alfranca A, Garcia-Castro J, Sánchez de Toledo J, Roma J, Gallego S. Stem Cells Int. 2017;2017:7507380. PMID: 28243259.

8 - Embryonic Signaling Pathways as Potential Targets for the Treatment of Rhabdomyosarcoma (Editorial Thematic Issue). Gallego S, Roma J. Curr Drug Targets. 2016. Jul 29;17(11):1226-7. PMID: 26947582.

9 - Notch-mediated induction of N-cadherin and á9-integrin confers higher invasive phenotype on rhabdomyosarcoma cells. Masià A, Almazán-Moga A, Velasco P, Reventós J, Torán N, Sánchez de Toledo J, Roma J, Gallego S. Br J Cancer. 2012;107(8):1374-83. PMID: 22976797.

10 - Notch pathway inhibition significantly reduces rhabdomyosarcoma invasiveness and mobility in vitro.  Roma J, Masià A, Reventós J, Sánchez de Toledo J, Gallego S. Clin Cancer Res. 2011;17(3):505-13. PMID: 21177409.

Active collaborations with Biotech companies:

BCN peptides – Development of anti-metastatic compounds.

Leitat/Selabtec – Development of anti-cancer compounds.

QGenomics – Liquid biopsy development for detection of cfDNA in sarcomas.

Oncoheroes Biosciences – Development of anti-cancer compounds.

Flomics – Liquid biopsy for histiocytosis follow up.

IP: Josep Roma Castanyer


Seniority Josep Romà 2024

IP: Josep Roma Castanyer
Collaborators: -
Funding agency: VHIR
Funding: 296955
Reference: VHIR-SEN-2023-002
Duration: 01/05/2024 - 30/04/2029

TACTIC: Explorando soluciones a los retos de salud mediante ciencia disruptiva, terapias avanzadas y medicina de sistemas

IP: Begoña Benito Villabriga
Collaborators: Carmen Escudero Iriarte, Laia Ventura i Expósito, Susana Otero Romero, Ibane Abasolo Olaortua, Ignacio Ferreira González, José Antonio Barrabés Riu, Carlos Nos Llopis, Pablo Velasco Puyó, Jose Fernando Rodríguez Palomares, María Rosario Pérez- Torres Lobato, Sunny Malhotra Sareen, Perez Dueñas, Belen, Jaume Sastre Garriga, Joan López Hellin, Antonia Sambola Ayala, Jordi Rio Izquierdo, Nuria Rivas Gandara, Jordi Perez Rodon, Aroa Soriano Fernández, Manuel Comabella Lopez, Antonio Rodríguez Sinovas, Gisela Teixido Tura, Antonia Pijuan Domenech, Roser Ferrer Costa, Joaquin Seras Franzoso, Carmen Tur Gomez, Maria Cristina Díaz de Heredia Rubio, Laia Yañez Bisbe, Julia German Cortes, Maria Jose Pérez García, Miguel Segura Ginard, Diego Baranda Martínez-Abasca, Cristina Auger Acosta, Neus Bellera Gotarda, Herena Eixarch Ahufinger, M Mar Mañu Pereira, Deborah Pareto Onghena, Lorena Valero Arrese, Aitor Uribarri Gonzalez, Jordi Bañeras Rius, Alex Rovira Cañellas, Mar Tintore Subirana, Bruno García del Blanco, Maria Teresa Salcedo Allende, Marisol Ruiz Meana, Ana Belén Méndez Fernández, Xavier Montalban Gairín, Simon Schwartz Navarro, Anna Llort Sales, Carmen Espejo Ruiz, Raquel Hladun Alvaro, Angels Alcina Mila, Sandra Mancilla Zamora, Zamira Vanessa Diaz Riascos, Ana Zabalza de Torres, Ariadna Boloix Amenós, Marc Miquel Moltó Abad, Javier Inserte Igual, Luciana Midaglia Fernandez, Elizabeth Pando Rau, Gabriela Guillén Burrieza, Cazurro Gutierrez, Ana Laura, Gómez Andrés, David, Alvaro Cobo Calvo, Alvaro Calabuig Goena, Joaquin Castillo Justribo, Lydia Dux-Santoy Hurtado, Lucas Moreno Martín-Retortillo, Andres Miguez Gonzalez, Josep Roma Castanyer, Laura Dos Subirá, Nicolás Miguel Fissolo, Maria Nazarena Pizzi, Tian Tian, Bou Teen, Diana, Fernanda Raquel Da Silva Andrade, Diana Fernandes de Rafael, Andrea Guala
Funding agency: Instituto de Salud Carlos III
Funding: 2494527.53
Reference: FORT23/00034
Duration: 01/01/2024 - 31/12/2027

Desarrollo de una nueva diana terapéutica con elevado potencial anti-oncogénico para los sarcomas infantiles: bloqueo farmacológico del co-receptor de Hedgehog CDO.

IP: Josep Roma Castanyer
Collaborators: -
Funding agency: Fundación Inocente Inocente
Funding: 90000
Duration: 10/10/2022 - 30/09/2025

Logotip Fundación Inocente Inocente

Grup de Recerca Emergent (GRE) Childood Cancer & Blood disorders

IP: Lucas Moreno Martín-Retortillo
Collaborators: Luís Gros Subias, Raquel Andreu Vilarroig, Andrea Vilaplana Blanes, Pablo Velasco Puyó, Laura Murillo Sanjuán, Maria Isabel Benitez Carabante, Aroa Soriano Fernández, Guillem Pons Barcons, Jose Miguel Lizcano De Vega, Maria Cristina Díaz de Heredia Rubio, María de los Ángeles Rodríguez Sánchez, Uría Oficialdegui, Maria Luz, Maria Jose Pérez García, Miguel Segura Ginard, M Mar Mañu Pereira, Lorena Valero Arrese, Thaïs Murciano Carrillo, Constantino Sábado Álvarez, Anna Llort Sales, Elisabet Megías Roda, Raquel Hladun Alvaro, Ariadna Boloix Amenós, Carlota Aguilera Ordoñez, Adria Molero Valenzuela, Júlia Sansa Girona, Gabriela Guillén Burrieza, Laura Alonso Garcia, Victoria Gutierrez Valle, Idoia Bolinaga Ayala, Josep Roma Castanyer, Sergio Espinosa Gil, Elena Andretta, Claire Diot, Amira Idrizovic
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 60000
Reference: 2021 SGR 00638
Duration: 01/01/2022 - 30/06/2025

Related news

"Generation of a bank of surgical orthotopic PDX (patient-derived xenografts) models within the framework of a personalized medicine program in pediatric cancer" was the awarded work, of the Childhood Cancer and Hematological Diseases Group of VHIR.

A study, co-led by Vall d’Hebron, has analysed the evolution of clinical trials with children and adolescents with cancer over the last 15 years, with the aim of optimising efficacy and defining lines for further progress.

The research team has shown that inhibiting the TRIB3 protein slows the growth of rhabdomyosarcoma and improves survival in animal models.

Related professionals

Laura Vidal Piñeiro

Laura Vidal Piñeiro

Research technician
Hepato-bilio-pancreatic surgery (HBP) and liver transplantation
Read more
Mireia Verdaguer Tremolosa

Mireia Verdaguer Tremolosa

Research technician
General Surgery
Read more
Montse  Adell  Trape

Montse Adell Trape

General Surgery
Read more
Marta  Marin  Soro

Marta Marin Soro

Read more

Subscribe to our newsletters and be part of the Campus life

We are a world-leading healthcare complex where healthcare, research, teaching and innovation go hand in hand.

This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.