This research group works in the field of human genetics diseases characterized by a high predisposition to cancer. Many of these syndromes are caused by mutations in DNA repair genes.
These genes are important to avoid the accumulation of mutations and prevent cancer transformation. Research on these syndromes is important to unravel the mechanisms that protect us from cancer.
In the past few years, the team has identified and studied a number of novel genes involved in such syndromes and performed therapeutic research leading to an orphan drug designation by the European Medicines Agency.
Their researchers are also involved in several clinical trials on gene therapy and drug repurposing and investigate DNA repair genes involved in these syndromes as therapeutic targets against cancer in the general population.
There are an increasing number of novel therapeutic strategies based on the deep knowledge of the genetic causes of the disease. Therefore, a proper genetic diagnosis is important not only to provide an adequate genetic counseling and clinical management to the patients and their families but also to provide personalized medicine based on genomic information.
SURRALLES CALONGE, JORDI
jsurralles@santpau.cat
Agbo, Lynda Marie C. IR
Bogliolo, Massimo UAB
Camps Fajol, Cristina IR
Lopez De Heredia, Miguel CIBERER
Marsal Olivan, Aina IR
Molina Romero, Ana UAB
Mora Rodriguez, Angel IR
Muñoz Pujol, Gerard IR
Ortega Aceituno, Jennifer Paola IR
Peiro Navarro, Montserrat UAB
Pujol Calvet, Roser CIBERER
Ramirez De Haro, Maria Jose CIBERER
Rodriguez Santiago, Benjamin FGS
Tejero Laguna, Eudald IR
This research group works in the field of human genetics diseases characterized by a high predisposition to cancer. Many of these syndromes are caused by mutations in DNA repair genes.
These genes are important to avoid the accumulation of mutations and prevent cancer transformation. Research on these syndromes is important to unravel the mechanisms that protect us from cancer.
In the past few years, the team has identified and studied a number of novel genes involved in such syndromes and performed therapeutic research leading to an orphan drug designation by the European Medicines Agency.
Their researchers are also involved in several clinical trials on gene therapy and drug repurposing and investigate DNA repair genes involved in these syndromes as therapeutic targets against cancer in the general population.
There are an increasing number of novel therapeutic strategies based on the deep knowledge of the genetic causes of the disease. Therefore, a proper genetic diagnosis is important not only to provide an adequate genetic counseling and clinical management to the patients and their families but also to provide personalized medicine based on genomic information.
SURRALLES CALONGE, JORDI
jsurralles@santpau.cat
Agbo, Lynda Marie C. IR
Bogliolo, Massimo UAB
Camps Fajol, Cristina IR
Lopez De Heredia, Miguel CIBERER
Marsal Olivan, Aina IR
Molina Romero, Ana UAB
Mora Rodriguez, Angel IR
Muñoz Pujol, Gerard IR
Ortega Aceituno, Jennifer Paola IR
Peiro Navarro, Montserrat UAB
Pujol Calvet, Roser CIBERER
Ramirez De Haro, Maria Jose CIBERER
Rodriguez Santiago, Benjamin FGS
Tejero Laguna, Eudald IR
(JIF 2024)
-Balagué L, Esko T, de Heredia ML, Abellán J, Acosta R, Aguado JM, Aguilar C, Aguilera S, Sabbagh AA, Alba J, Albu S, Alcalá K, Alcoba J, Batres SA, Algarin HR, Almadana V, Medeiros KA, Almeida J, Almoguera B, Alonso MR, Alvarez N, Walther R, Alvarez Y, Alvarez F, dos KA, Andreu A, Antonijoan MR, Martínez E, Arana E, Aranda C, Arango C, Araque C, Araujo NK, Arcanjo AC, Arnaiz A, Fernández FA, Arranz MJ, López J, Artiga MJ, Avello Y, Ayuso C, Martín BB, Baptista RC, Baldion AM, Barranco A, Barreda M, Barrera V, Belhassen M, Bernal D, Bernal E, Bezerra JF, Bezerra M, Blanca N, Blancas R, Boix L, Borobia A, Bravo E, Brion M, Brochado O, Brugada R, Bustos M, Cabello A, Cáceres A, Cáceres JJ, Calbo E, Calderón EJ, Camacho S, Ceballos FC, Cañadas Y, Carbonell C, Cardona S, Abad MSC, Segura CC, Carrillo JA, Campos MC, Casasnovas C, Castaño L, Castaño CF, Castelao JE, Candalija AC, Castillo MA, Chaves WG, Chiquillo S, Cid MA, Cienfuegos O, Conde R, Cunha GCR, Cordero ML, Corella D, Corrales A, Cortés JL, Corton M, Souza KSC, Silva FTC, Cruz R, Cuesta L, Tavares N, Carvalho MCC, Dalmau D, Dantas RCS, Darnaude MT, de Andrés R, de Juan C, Troca JJD, de la Horra C, de la Hoz AB, De Martino A, Cruz MS, Neri J, del Campo V, Delgado J, de Bustamante AD, Díaz A, Dietl B, Diz S, Alves MD, Domínguez E, Rosa LS, Luchessi AD, Echave J, Eiros R, Enciso CO, Escudero G, España PP, Sanabria GE, Fariñas MC, Fernández R, Fernández L, Fernández A, Fernández S, Martínez YF, Fernandez MJ, Fernández U, Fernández A, Fernández M, Fernández R, Fernández T, Fernández C, Carioca A, Flores P, Fuenmayor L, Fuertes M, Fumadó V, Gadea I, Gagliardi L, Gago M, Gallego N, Galoppo C, García A, García C, García A, Garcia J, García I, García C, García AC, García L, García M, Torrejón MCG, García I, García E, Garza E, Gentile A, Gil B, de Araújo JNG, Gómez M, Gómez J, Carrera LG, García MG, Sacristán AG, González A, Alvarez BG, de Quirós FGB, González R, González J, Gonzalez M, Gonzalo H, Gorgojo O, Górgolas M, Guaragna F, Chaux JG, Guillén E, Guillén B, Guisado P, Gutiérrez LD, Gutiérrez JF, Heili S, Jacomo RH, Hernández E, Hernández C, Hernández LD, Hernández G, Hernández R, Herráez B, Herranz MT, Herrera M, Herrero MJ, Herrero A, Horcajada JP, Imaz N, Intxausti M, Iñigo A, Iñiguez M, Jara R, Jiménez A, Jiménez I, Jiménez P, Jiménez MA, Jordan I, Laguna R, Laorden D, Lasa M, Lattig MC, Lauriente A, Borja AL, Llanos L, López A, de Heredia ML, Lopez E, López E, Lopez R, López MA, Lorente L, Lorenzo J, Lozano JE, Lozano M, Mahillo I, Mancebo E, Mar C, Calvo CM, Marcos A, Marcos M, Marín A, Mariscal P, Martin L, Martin M, Martín C, Martín JA, Martín MD, Martín V, Martín MM, Martín M, Martinez A, Martínez O, Martínez R, Martinez P, Díaz CM, Martínez O, Martínez I, Martínez MF, Martínez S, Martínez JJ, Martínez A, Martínez A, Martínez V, Marzal L, Mazzeu JF, Medrano FJ, Meijome XM, Mejuto N, Mendes I, Duarte AL, Méndez A, Charris HM, Macías EM, Mercadillo F, Mercado AR, Mínguez P, Molina E, Molina AJ, Montoya JJ, Pinho SMT, Moreira P, Morelos X, Moreno R, Cuerda VM, Moreno A, Moreno J, Fernández AM, Garcia PM, Neira P, Nevado J, Nieto I, Silbiger VN, Nuñez R, Obrador A, Ocejo JG, Virginia O, Oliveira SF, Ondo L, Orfao A, Ortega E, Ortega L, Ortiz R, Ortiz F, Oteo JA, Pacheco M, Pacheco FJ, Padilla I, Panadero S, Parellada M, Pariente R, Friaza V, Paz E, Peces G, Kus MSP, Perales C, Santos NPC, Guegel GP, Pérez MJ, Pérez A, Pérez P, Pérez C, Pérez G, Pérez F, Pérez P, Pérez LA, Pérez ME, Perucho T, Pichardo LA, Ribeiro AP, Pinsach ML, Pinzón LA, Medeiros JFP, Pita G, Pla F, Planas L, Pompa EN, Porras GL, Pujol A, Quevedo ME, Quijada MA, Quintela I, Ramiro S, Sedes PR, Nunes JFR, Recalde D, Recio E, Resino S, Sousa RR, Rivadeneira CS, Roa D, Pardo MR, Fernandes MR, Rodríguez MA, Rodriguez A, Rodríguez E, Rodriguez MJ, Rodríguez F, Rodríguez M, Rodríguez C, Rodríguez JA, Maya BR, Rodriguez A, Rodríguez GE, Rodriguez PA, Rojo F, Romero A, Morilla R, Rondón F, Rosales A, Rubio C, Olivera MR, Ruiz F, Ruiz E, Ruiz JJ, Ruiz J, Ruiz M, Ryan P, Salamanca HD, Salazar L, Salgueiro GG, Sangil A, Sánchez O, Sánchez PL, López A, Sánchez C, Sanchez MC, Sanchez J, Sanchez J, Sancho C, Sande E, Santos A, Schlüter A, Segovia S, Serra A, Sevil F, Sevilla M, Sicolo MA, Silván C, Moraes VMS, Souza VS, Solé J, Soria JM, Sorlí JV, Silva NS, Souto JC, Sprockel JJ, Suárez JJ, Suárez DA, Taboada X, Tamayo E, Tamayo A, Taracido JC, Vasconcelos RHT, Tellería C, Carratto TMT, Tenorio JA, Teper A, Araujo I, Torres J, Torres L, Torres RP, Troya J, Urioste M, Valencia J, Valido A, Vargas JP, Varón B, Vega T, Velasco S, Vélez V, Víctor V, Vidán J, Silva GV, Vieitez M, Vilches C, Villalobos L, Villar F, Villar J, Villaverde C, Villoslada P, Virseda A, Costa TX, Yáñez Z, Zapatero A, Zarate R, Zazo S, Flores C, Riancho JA, Rojas A, Lapunzina P, Carracedo A, González JR, SCOURGE GRP. Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2. Communications Biology. 2024; 7(1):202. DOI:10.1038/s42003-024-05805-6. PMID:38374351. IF:5,100 (Q1/1D). Document type: Article.
-Cavestro C, Morra F, Legati A, D’Amato M, Nasca A, Iuso A, Lubarr N, Morrison JL, Wheeler PG, Serra C, Rodríguez B, Turón E, Prouteau C, Barth M, Hayflick SJ, Ghezzi D, Tiranti V, Di I. Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases. Annals of Clinical and Translational Neurology. 2024; 11(6). DOI:10.1002/acn3.52079. PMID:38750253. IF:3,900 (Q1/3D). Document type: Article.
-Dols O, Carbayo A, Jericó I, Blasco O, Alvarez E, Pérez M, Bernal S, Rodríguez B, Cusco I, Turon J, Cabezas M, Caballero M, Vesperinas A, Llansó L, Pagola I, Torné L, Valle N, Muñoz L, Rubio S, Illán I, Cortés E, Gelpi E, Rojas R. Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2024; DOI:10.1136/jnnp-2024-333834. PMID:38960585. IF:7,500 (Q1/1D). Document type: Article.
-Llansó L, Segarra A, Domínguez C, Malfatti E, Kapetanovic S, Rodríguez B, de la Calle O, Blanco R, Dobrescu A, Nascimento A, Paipa A, Hernandez A, Jou C, Mariscal A, González L, Arteche A, Lleixa C, Caballero M, Carbayo A, Vesperinas A, Querol L, Gallardo E, Olivé M. Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy. Neurology-Neuroimmunology & Neuroinflammation. 2024; 11(5):e200285. DOI:10.1212/NXI.0000000000200285. PMID:39106428. IF:7,500 (Q1/1D). Document type: Article.
-Río P, Zubicaray J, Navarro S, Gálvez E, Sánchez R, Nicoletti E, Sebastian E, Rothe M, Pujol R, Bogliolo M, John P, Bastone AL, Schambach A, Wang W, Schmidt M, Larcher L, Segovia JC, Yáñez RM, Alberquilla O, Diez B, Fernández M, García L, Ramírez M, Galy A, Lefrere F, Cavazzana M, Leblanc T, de Andoin NG, López R, Catala A, Barquinero J, Rodríguez S, Rao G, Surrallés J, Soulier J, Díaz C, Schwartz JD, Sevilla J, Bueren JA, FANCOLEN I. 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. 2024; 404(10471). DOI:10.1016/S0140-6736(24)01880-4. PMID:39642902. IF:88,500 (Q1/1D). Document type: Article.
-Sierra A, Ribosa R, Vidal N, Aldecoa I, Turón E, Rodríguez B, Turón M, Boronat S, Molina L. Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers. EPILEPSY RESEARCH. 2024; 199:107266. DOI:10.1016/j.eplepsyres.2023.107266. PMID:38061235. IF:2,000 (Q3/7D). Document type: Article.
(JIF 2023)
-Collet R, Olmedo G, Ruiz I, Martinez A, Rodriguez B, Bernal S, Kulisevsky J, Pagonabarraga J. Late-Onset Beta-Propeller Protein-Associated Neurodegeneration: A Case Report. Movement Disorders Clinical Practice. 2023; 10(8). DOI:10.1002/mdc3.13811. PMID:37635772. IF:2,600 (Q2/5D). Document type: Article.
-Dobarro D, Donoso V, Sole E, Moliner C, Garcia JM, Lopez S, Ruiz S, Diez C, Castrodeza J, Mendez AB, Vaqueriza D, Cobo M, Tobar J, Sagasti I, Rodriguez M, Escolar V, Abecia A, Codina P, Gomez I, Pastor F, Marzoa R, Gonzalez E, de Juan J, Melendo M, de Frutos F, Gonzalez J. Intermittent inotropic support with levosimendan in advanced heart failure as destination therapy: The LEVO-D registry. ESC Heart Failure. 2023; 10(2). DOI:10.1002/ehf2.14278. PMID:36655614. IF:3,200 (Q2/4D). Document type: Article.
-Esmel R, Valenzuela I, Riaza L, Rodríguez B, Rosés F, Boronat S, Sabaté A. Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients. European Journal of Medical Genetics. 2023; 66(9):104823. DOI:10.1016/j.ejmg.2023.104823. PMID:37619836. IF:1,600 (Q3/8D). Document type: Article.
-Lasaga M, Río P, Vilas A, Planell N, Navarro S, Alignani D, Fernández B, Mouzo D, Zubicaray J, Pujol RM, Nicoletti E, Schwartz JD, Sevilla J, Ainciburi M, Ullate A, Surrallés J, Perona R, Sastre L, Prosper F, Gomez D, Bueren JA. Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia. HAEMATOLOGICA. 2023; 108(10). DOI:10.3324/haematol.2022.282418. PMID:37021532. IF:8,200 (Q1/2D). Document type: Article.
-Lee EM, Verma M, Palaniappan N, Pope EM, Lee S, Blacher L, Neerumalla P, An W, Campbell T, Brown C, Hurst S, Marshall B, Hershey T, Nunes V, de Heredia ML, Urano F. Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders. Frontiers in Genetics. 2023; 14:1198171. DOI:10.3389/fgene.2023.1198171. PMID:37415600. IF:2,800 (Q2/5D). Document type: Article.
-López D, Roldán G, Fernández JL, Bostelmann G, Carmona R, Aquino V, Perez J, Ortuño F, Pita G, Núñez R, González A, Alonso A, Salgado J, Pasalodos S, Ayuso C, Minguez P, Avila A, Corton M, Artuch R, Borrego S, Antiñolo G, Carracedo A, Amigo J, Castaño LA, Tejada I, Delmiro A, Espinos C, Grinberg D, Guillén E, Lapunzina P, Lopez JA, Gallego A, Martí R, Rovira E, Millán JM, Moreno MA, Morin M, Moreno A, Fernández M, Morte B, Mulero V, García D, Nunes V, Palau F, Perez B, Jurado LP, Perona R, Pujol A, Ramos F, Lopez E, Ribes A, Rosell J, Surrallés J, Peña M, Dopazo J, Crowdsourcing CSVS. A crowdsourcing database for the copy-number variation of the Spanish population. Human Genomics. 2023; 17(1):20. DOI:10.1186/s40246-023-00466-8. PMID:36894999. IF:3,800 (Q2/3D). Document type: Article.
-Persico I, Fontana G, Faleschini M, Zanchetta ME, Ammeti D, Cappelli E, Corsolini F, Mosa C, Guarina A, Bogliolo M, Surrallés J, Dufour C, Farruggia P, Savoia A, Bottega R. A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C & gt;G splicing mutation. Frontiers in Genetics. 2023; 14:1209138. DOI:10.3389/fgene.2023.1209138. PMID:37547463. IF:2,800 (Q2/5D). Document type: Article.
(JIF 2022)
