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.
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
Carceller Gental, Berta IR
Cavero Moreno, Debora 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 2022)
-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:4,000 (Q2/4D). 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:3,800 (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:1,900 (Q4/8D). 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:10,100 (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:3,700 (Q2/4D). 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:4,500 (Q1/3D). 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:3,700 (Q2/4D). Document type: Article.
(JIF 2022)