Sant Pau - Institut de Recerca

Main lines of research

Study of the clinical heterogeneity of genetic autosomal recessive transmission of waist dystrophy and autosomal dominant transmission.
Spinal atrophy and SMN genes: 1.- studies of molecular pathology, disease mechanisms and SMN gene expression. 2.- Identification of modifying genes. 3.- study of biomarkers for validation processing in spinal muscular atrophy. 4.- study of the neuromuscular junction in human development.
Hereditary breast cancer and BRCA mutations: 1. Identification of mutations and genetic variants. 2. Molecular characterization of Circulating tumor cells (CTCSS) through expression profiles in patients with f breast cancer. 3. Analysis of free circulating tumor DNA (cfDNA) as a predictor of response to the treatment of breast cancer.
Pharmacogenetics: adverse reactions to medications.
Congenital coagulopathies: Molecular Pathology of haemophilias.
Duchenne and Becker muscular dystrophy: molecular pathology of DMD gene.

Challenges

Pharmacogenetics

Colorectal and lung cancer treatments.
Chronic inflammatory disease treatment.
HIV infection treatment.

Muscular Distrophies

Post-transcriptional regulation of the dystrophin gene using nonsense-mediated decay analysis in DNA from patients with Duchenne muscular dystrophy.
Genes associated with new phenotypic forms of limb girdle muscular dystrophy.
Workflow development for the analysis of DMD gene by NGS techniques.

Hereditary Breast/Ovarian Cancer

DNA studies to classify DNA variants found in the BRCAs genes as pathogenic or neutral.
CTCs as prognostic markers in patients with locally advanced and disseminated breast cancer.
Workflow development for the analysis of BRCA1 and BRCA2 genes by NGS techniques.

Hereditary Motor Neurone Diseases

Development of neuromuscular junction studies in health and disease.
Broadening of the spectrum of motor neuron diseases to include bulbar and spinal muscular atrophy, distal muscular atrophies and amyotrophic lateral sclerosis.

Group coordination

GALLANO PETIT, MARIA PIA FGS
pgallano@santpau.cat

Members

Baena Gimeno, Manel FGS

Bernal Noguera, Sara FGS

Cliville Santano, Nuria FGS

Cornet Ciurana, Monica FGS

Cusco Marti, Ivon FGS

Gonzalez Quereda, Lidia FGS

Lasa Laborde, Adriana Maria FGS

Riera Armengol, Pau FGS

Rodriguez Fernandez, Maria Jose FGS

Rodriguez Santiago, Benjamin FGS

Segarra Casas, Alba IR

Serra Juhe, Clara FGS

Tejero Laguna, Eudald IR

Vega Hanna, Lourdes Rita FGS

Publications 2023

(JIF 2023)

-Abuli A, Costa M, Codina M, Valenzuela I, Leno J, Rovira E, Cueto A, Fernandez P, Garcia E, Cusco I, Tizzano EF. Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples. JOURNAL OF MEDICAL GENETICS. 2023; 60(6). DOI:10.1136/jmg-2022-108607. PMID:36600615. IF:3,500 (Q2/4D). Document type: Article.

-Arqueros C, Salazar J, Gallardo A, Andrés M, Tibau A, Bell OL, Artigas A, Lasa A, Cajal T, Lerma E, Barnadas A. Secreted Protein Acidic and Rich in Cysteine (SPARC) Polymorphisms in Response to Neoadjuvant Chemotherapy in HER2-Negative Breast Cancer Patients. Biomedicines. 2023; 11(12):3231. DOI:10.3390/biomedicines11123231. PMID:38137452. IF:3,900 (Q1/3D). Document type: Article.

-Bermejo L, Fernández CPD, González L, Segarra A, Nedkova V, Gallano P, Martín P, Hernández A, Olivé M, Arteche A, Domínguez C. Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients. NEUROMUSCULAR DISORDERS. 2023; 33(12). DOI:10.1016/j.nmd.2023.10.016. PMID:38016875. IF:2,700 (Q2/4D). Document type: Article.

-Codina M, Trujillano L, Abuli A, Rovira E, Munoz P, Campos B, Fernandez P, Palau D, Carrasco E, Valenzuela I, Cueto AM, Lasa A, Limeres J, Leno J, Costa M, Moles A, Balmana J, Diez O, Cusco I, Garcia E, Tizzano EF. An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history. EUROPEAN JOURNAL OF HUMAN GENETICS. 2023; 31(2). DOI:10.1038/s41431-022-01240-5. PMID:36446894. IF:3,700 (Q2/3D). Document type: Article.

-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.

-De Pourcq JT, Riera P. Critical Commentary on the paper: Compatibility of prolonged infusion antibiotics during Y-site administration with parenteral nutrition. Nursing in Critical Care. 2023; 28(6). DOI:10.1111/nicc.12910. PMID:37232328. IF:3,000 (Q1/1D). Document type: Editorial Material.

-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.

-Iznardo H, Bernal S, Boronat S, Roé E. Sclerotic Bone Lesions as a Clue in the Diagnosis of Three Generations of Tuberous Sclerosis Complex: Case Report and Review of Literature. PEDIATRIC NEUROLOGY. 2023; 148. DOI:10.1016/j.pediatrneurol.2023.07.022. PMID:37634327. IF:3,200 (Q1/2D). Document type: Article.

-Miarons M, Gordon AM, Riera P, Nicolas FG, Spanish Soc Hosp Pharm S. Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study. ONCOLOGIST. 2023; 28(5):e304-e308. DOI:10.1093/oncolo/oyad077. PMID:37014829. IF:4,800 (Q1/3D). Document type: Article.

-Mir JF, Rodriguez C, Estrada M, de Gamarra EF, Mangues MA, Bagaria G, Riera P. An Integrated Multidisciplinary Circuit Led by Hospital and Community Pharmacists to Implement Clopidogrel Pharmacogenetics in Clinical Practice. Pharmacy. 2023; 11(2):76. DOI:10.3390/pharmacy11020076. PMID:37104082. IF:2,000 (Q3/7D). Document type: Article.

-Palones E, Curto E, Plaza V, Gonzalez L, Segarra A, Querol L, Bertoletti F, Rodriguez MJ, Gallano P, Crespo A. Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS). JOURNAL OF NEUROLOGY. 2023; DOI:10.1007/s00415-023-12001-9. PMID:37917234. IF:4,800 (Q1/2D). Document type: Article.

-Paneque M, Guimarães L, Bengoa J, Pasalodos S, Cordier C, Esteban I, Lemos C, Moldovan R, Serra C. An European overview of genetic counselling supervision provision. European Journal of Medical Genetics. 2023; 66(4):104710. DOI:10.1016/j.ejmg.2023.104710. PMID:36731744. IF:1,600 (Q3/8D). Document type: Article.

-Rodríguez PM, Ravenscroft G, Natera D, Carr A, Manzur A, Liu WW, Vella NR, Jericó I, Gonzalez L, Gallano P, Montalto SA, Davis MR, Lamont PJ, Laing NG, Bourque P, Nascimento A, Muntoni F, Polavarapu K, Lochmüller H, Palace J, Beeson D. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1. NEUROMUSCULAR DISORDERS. 2023; 33(2). DOI:10.1016/j.nmd.2022.12.011. PMID:36634413. IF:2,700 (Q2/4D). Document type: Article.

-Sainz L, Riera P, Moya P, Bernal S, Casademont J, Díaz C, Millán AM, Park HS, Lasa A, Corominas H. Clinical Value of IL6R Gene Variants as Predictive Biomarkers for Toxicity to Tocilizumab in Patients with Rheumatoid Arthritis. Journal of Personalized Medicine. 2023; 13(1):61. DOI:10.3390/jpm13010061. PMID:36675722. IF:3,000 (Q1/2D). Document type: Article.

-Sainz L, Riera P, Moya P, Bernal S, Casademont J, Diaz C, Millan AM, Park HS, Lasa A, Corominas H. Impact of IL6R genetic variants on treatment efficacy and toxicity response to sarilumab in rheumatoid arthritis. ARTHRITIS RESEARCH & THERAPY. 2023; 25(1):226. DOI:10.1186/s13075-023-03209-1. PMID:38001504. IF:4,400 (Q1/3D). Document type: Article.

-Sarkozy A,Bourke JP,Ferlini A,Barthélémy I,Cripe LH,Reuben E,Evangelista T et al. 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022. THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND:PERGAMON-ELSEVIER SCIENCE LTD. 2023. p.p. 274-284. Document type: Conference Paper.

-Segarra A, Collet R, Gonzalez L, Vesperinas A, Caballero M, Carbayo A, Diaz J, Rodriguez MJ, Gallardo E, Gallano P, Olive M. A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness. NEUROMUSCULAR DISORDERS. 2023; 33(4). DOI:10.1016/j.nmd.2023.02.006. PMID:36893608. IF:2,700 (Q2/4D). Document type: Article.

-Segarra A, Dominguez C, Hernandez A, Sanchez MT, Camacho A, Rivas E, Campo A, Madruga M, Ortez C, Natera D, Nascimento A, Codina A, Rodriguez MJ, Gallano P, Gonzalez L. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events. JOURNAL OF MEDICAL GENETICS. 2023; 60(6). DOI:10.1136/jmg-2022-108828. PMID:36535754. IF:3,500 (Q2/4D). Document type: Article.

-Trifunov S, Natera D, Carrera L, Codina A, Expósito J, Ortez C, Medina J, Alcala ST, Bernal S, Alias L, Badosa C, Balsells S, Alcolea D, Nascimento A, Jimenez C. Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen. Journal Of Neuromuscular Diseases. 2023; 10(4). DOI:10.3233/JND-230012. PMID:37038823. IF:3,200 (Q2/3D). Document type: Article.

Publications 2022

(JIF 2022)

Alias L, de Heredia ML, Luna S, Cliville N, Gonzalez L, Gallano P, de Juan J, Pujol A, Diez S, Boronat S, Orus C, Lasa A, Venegas MD. Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness. Frontiers in Genetics. 2022; 13:1024742. DOI:10.3389/fgene.2022.998898. PMID:36330437. IF:3,7 (Q2/4D). Document type: Article.
Alonso J, Gonzalez L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMD, Melegh B, Hadzsiev K, Muelas N, Vilchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suarez X, Topf A, Guglieri M, Marini C, Gallano P, Straub V, Diaz J. Clinical and genetic spectrum of a large cohort of patients with delta-sarcoglycan muscular dystrophy. 2022; 145(2). DOI:10.1093/brain/awab301. PMID:34515763. IF:14,5 (Q1/1D). Document type: Article.
Alonso J, Hernandez JCD, Perez H, Mendoza MD, Gutierrez AJ, Hadjigeorgiou I, Monton F, Gonzalez L, Alonso A, Suarez X, Diaz J. Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands. EUROPEAN JOURNAL OF NEUROLOGY. 2022; 29(5). DOI:10.1111/ene.15252. PMID:35112761. IF:5,1 (Q1/2D). Document type: Article.
Blasco-Pérez L, Costa-Roger M, Leno-Colorado J, Bernal S, Alias L, Codina-Solà M, Martínez-Cruz D, Castiglioni C, Bertini E, Travaglini L, Millán JM, Aller E, Sotoca J, Juntas R, Hoei-Hansen CE, Moreno-Escribano A, Guillén-Navarro E, Costa-Comellas L, Munell F, Boronat S, Rojas-García R, Povedano M, Cuscó I, Tizzano EF. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G > C Variant in SMN2. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(15):8289. DOI:10.3390/ijms23158289. PMID:35955418. IF:5,6 (Q1/3D). Document type: Article.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez LA, Beltran S, Schlüter A, Rodriguez A, Cáceres A, Nascimento A, García À, Cueto A, Marcé A, NELLOAR, Martínez A, et al. [Díaz-Manera J, Rojas-García R, Bernal S]. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases. JOURNAL OF MOLECULAR DIAGNOSTICS. 2022; 24(5). DOI:10.1016/j.jmoldx.2022.02.003. PMID:35569879. IF:4,1 (Q2/3D). Document type: Article.
Conejo I, Mas N, Riera P, Cardenete J, Puig R, Blanco MR, De Pourcq JT. Hernia enlargement and pancreatitis in a patient with short bowel syndrome treated with teduglutide. Nutricion Hospitalaria. 2022; 39(1):03879. DOI:10.20960/nh.03879. PMID:34903028. IF:1,2 (Q4/9D). Document type: Article.
De Dios A, Masip M, Pagès N, Riera P, Mateo MG, Del Mar M, Mangues MA, Gomis M. Desarrollo de una intervención mHealth para rediseñar la ruta asistencial de las personas que viven con VIH: Estudio cualitativo. Farmacia Hospitalaria. 2022; 46. DOI:10.7399/fh.13249. PMID:36520560. Document type: Article.
Iznardo H, Bredrup C, Bernal S, Gladkauskas T, Mascaro JM, Roe E, Baselga E. Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2022; 188(4). DOI:10.1002/ajmg.a.62603. PMID:34894066. IF:2 (Q3/8D). Document type: Article.
Lucia-Campos C, Valenzuela I, Latorre-Pellicer A, Ros-Pardo D, Gil-Salvador M, Arnedo M, Puisac B, Castells N, Plaja A, Tenes A, Cuscó I, Trujillano L, Ramos FJ, Tizzano EF, Gómez-Puertas P, Pié J. A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome. 2022; 13(8):1413. DOI:10.3390/genes13081413. PMID:36011323. IF:3,5 (Q2/4D). Document type: Article.
Luque J, Mendes I, Gomez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Perez LA, Montoliu L, Carracedo A, Millan JM, Webb SM, Palau F, Lapunzina P. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative. CLINICAL GENETICS. 2022; 101(5-6). DOI:10.1111/cge.14113. PMID:35060122. IF:3,5 (Q2/4D). Document type: Review.
Medina D, Riera P, Pages N, Masip M, Lopez A, Vilarrasa E, Puig L. A cohort study of guselkumab in the treatment of psoriasis refractory to previous biologic therapies: effectiveness, safety and adherence. International Journal of Clinical Pharmacy. 2022; 44(3). DOI:10.1007/s11096-022-01400-z. PMID:35380392. IF:2,4 (Q3/8D). Document type: Article.
Miarons M, Riera P, García S, Gutiérrez F. Eficacia y seguridad de dosis altas de irinotecán en pacientes con cáncer colorrectal metastásico tratados con el esquema FOLFIRI en función del genotipo de UGT1A1: Revisión sistemática. Farmacia Hospitalaria. 2022; 46(4). DOI:10.7399/fh.11736. PMID:36183220. Document type: Review.
Paneque M, Juhe CS, Melegh B, Carreira I, Moog U, Liehr T. About the Need for Recognition of so-called Core Professional Groups within genetic Health Care in Europe. Medizinische Genetik. 2022; 34(1). DOI:10.1515/medgen-2022-2116. IF:1,1 (Q4/10D). Document type: Editorial material.
Paneque M, Liehr T, Juhe CS, Moog U, Melegh B, Carreira I. The need for recognition of core professional groups in genetics healthcare services in Europe. EUROPEAN JOURNAL OF HUMAN GENETICS. 2022; 30(6). DOI:10.1038/s41431-022-01080-3. PMID:35283482. IF:5,2 (Q1/2D). Document type: Editorial material.
Parlade E, Volta E, Cano O, Sanchez JM, Unzueta U, Lopez H, Serna N, Cano M, Rodriguez M, Vazquez E, Villaverde A. An In Silico Methodology That Facilitates Decision Making in the Engineering of Nanoscale Protein Materials. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(9):4958. DOI:10.3390/ijms23094958. PMID:35563346. IF:5,6 (Q1/3D). Document type: Article.
Pena L, Ercibengoa M, Mercadillo F, Gómez D, Inglada L, Santos M, Lanillos J, Gutiérrez D, Hernández A, Carbonell P, Letón R, Robledo M, Rodríguez C, Perea J, Urioste M, Alonso MÁ, Andrés R, Arévalo S, del Mar M, Balmaña J, Beristain E, Blanco I, Boronat M, Brunet J, Cózar MV, del Campo M, Díaz A, Gabau E, Barcina MJ, González M, Guitart M, Hernán I, Hernández HS, Hernando S, Lacambra C, Lasa A, Lastra E, Llort G, del Rosario M, Marrupe D, Martínez F, Martínez V, Martorell L, Orera M, Pedrinaci S, Pérez P, Pineda M, Plasencia AM, Cajal TR, Robles L, Rodà D, Rodríguez N, Rosell J, Sáez R, Salvat M, Sánchez A, Santana A, Soto JL, Toll A, Tuneu A, Vázquez C, Working PHTS. Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients. Orphanet Journal of Rare Diseases. 2022; 17(1):85. DOI:10.1186/s13023-021-02079-7. PMID:35227301. IF:3,7 (Q2/4D). Document type: Article.
Poyatos J, Marti P, Liquori A, Muelas N, Pitarch I, Martinez L, Rodriguez B, Gonzalez L, Damia M, Aller E, Selva M, Vilchez R, Diaz J, Alonso J, Barcena JE, Jauregui A, Gamez J, Aladren JA, Fernandez A, Montolio M, Azorin I, Hervas D, Casasus A, Nieto M, Gallano P, Sevilla T, Vilchez JJ. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion. ANNALS OF NEUROLOGY. 2022; 92(5). DOI:10.1002/ana.26461. PMID:35897138. IF:11,2 (Q1/1D). Document type: Article.
Riera P, Sole N, Suarez JC, Lopez PA, Fonts N, Rodriguez N, de Gamarra EF, Moran I. Drug-drug interactions in an intensive care unit and comparison of updates in two databases. Farmacia Hospitalaria. 2022; 46(5). DOI:10.7399/fh.13180. PMID:36183229. Document type: Article.
Sainz L, Riera P, Moya P, Bernal S, Casademont J, Diaz C, Millan AM, Park HS, Lasa A, Corominas H. Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis. 2022; 14(9):1942. DOI:10.3390/pharmaceutics14091942. PMID:36145690. IF:5,4 (Q1/2D). Document type: Article.
Sanchez JM, Carratala JV, Serna N, Unzueta U, Nolan V, Sanchez A, Volta E, Lopez H, Ferrer N, Villaverde A, Vazquez E. The Poly-Histidine Tag H6 Mediates Structural and Functional Properties of Disintegrating, Protein-Releasing Inclusion Bodies. 2022; 14(3):602. DOI:10.3390/pharmaceutics14030602. PMID:35335976. IF:5,4 (Q1/2D). Document type: Article.
Zapata L, Suarez JC, Flores MN, Morales EM, Segarra A, Santos JA. Acute cor pulmonale in patients with acute respiratory distress syndrome due to COVID-19. Medicina Intensiva. 2022; 46(11). DOI:10.1016/j.medin.2021.12.016. PMID:35079192. IF:3 (Q3/7D). Document type: Letter.

Publications 2021

Alvaro S, Abreu I, Abuli A, Serra C, Garrido MD. Current Status of Genetic Counselling for Rare Diseases in Spain. Diagnostics. 2021; 11(12):2320. DOI:10.3390/diagnostics11122320. PMID:34943558. IF:3,992.
Bernal S, Pelaez I, Alias L, Baena M, De Pablo JA, Serrano LJ, Camero MD, Tizzano EF, Berrueco R, Liras A. High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2021; 22(18):9705. DOI:10.3390/ijms22189705. PMID:34575869. IF: 6,208.
Blasco L, Paramonov I, Leno J, Bernal S, Alias L, Fuentes P, Cusco I, Tizzano EF. Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients. HUMAN MUTATION. 2021; 42(6). DOI:10.1002/humu.24200. PMID:33739559. IF:4,700.
Castells L, Gutierrez S, Bonache S, Bogliolo M, Carrasco E, Aza M, Montalban G, Munoz N, Pujol R, Cruz C, Llop A, Ramirez MJ, Saura C, Lasa A, Serra V, Diez O, Balmana J, Surralles J. Clinical consequences of BRCA2 hypomorphism. npj Breast Cancer. 2021; 7(1):117. DOI:10.1038/s41523-021-00322-9. PMID:34504103. IF:7,519.
Castells L, Tejero E, Rodriguez B, Surralles J. CRISPR Screens in Synthetic Lethality and Combinatorial Therapies for Cancer. Cancers. 2021; 13(7):1591. DOI:10.3390/cancers13071591. PMID:33808217. IF: 575 6,639.
Crespo A, Bernal S, del Rio E, Rojas E, Martinez C, Marina N, Pallares A, Pascual S, Garcia JL, Padilla A, Curto E, Cisneros C, Serrano J, Baiget M, Plaza V. Association of the CFTR gene with asthma and airway mucus hypersecretion. PLoS One. 2021; 16(6):e0251881. DOI:10.1371/journal.pone.0251881. PMID:34086689. IF:3,752.
Garcia C, Roe E, Rodriguez B, Amat V, Cubiro X, Puig L, Boronat S. A case report of PHF6 mosaicism: Beyond the classic Borjeson-Forssman-Lehmann syndrome. PEDIATRIC DERMATOLOGY. 2021; 38(4). DOI:10.1111/pde.14636. PMID:34041787. IF:1,997.
Gonzalez-Quereda L, Pagola I, Fuentes Prior P, Bernal S, Rodriguez MJ, Torné L, Salgado Garrido J, Gallano P, Jericó I. Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease. Annals of Clinical and Translational Neurology. 2021;8(1):294-299. DOI:10.1002/acn3.51265. PMID: 33275839. IF:5,430.
Lopez C, Falla LM, Roe E, Arostegui JI, Mozos A, Bernal S, Iznardo H, Baselga E. Excellent response to secukinumab in an infant with severe generalized pustular psoriasis. JOURNAL OF DERMATOLOGY. 2021; 48(6). DOI:10.1111/1346-8138.15673. PMID:33543522. IF:3,468.
Natera D, Ortez C, Jou C, Jimenez C, Codina A, Carrera L, Exposito J, Cesar S, Martorell L, Gallano P, Gonzalez L, Cuadras D, Colomer J, Yubero D, Palau F, Nascimento A. The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort. PEDIATRIC NEUROLOGY. 2021; 115. DOI:10.1016/j.pediatrneurol.2020.11.002. PMID:33333461. IF:4,210.
Riera P, Paez D. Elucidating the role of pharmacogenetics in irinotecan efficacy and adverse events in metastatic colorectal cancer patients. Expert Opinion on Drug Metabolism & Toxicology. 2021; 17(10). DOI:10.1080/17425255.2021.1974397. PMID:34486919. IF:4,936.
Rovira-Moreno E, Abuli A, Codina-Sola M, Valenzuela I, Serra-Juhe C, Cuscó I, Borregán M, Cueto-González A, Vendrell T, López-Grondona F, Brun-Gasca C, Brignani E, Martínez-Ribot L, Garci-Espejo R, Cruz J, García-Arumí E, Tizzano EF. Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases. Journal of Genetic Counseling. 2021;30(3):693-700. DOI:10.1002/jgc4.1354. PMID: 33142000. IF:2,717.

2017 Scientific Report – Genetic Diseases

Introduction

Main lines of research

Study of the clinical heterogeneity of genetic autosomal recessive transmission of waist dystrophy and autosomal dominant transmission.
Spinal atrophy and SMN genes: 1.- studies of molecular pathology, disease mechanisms and SMN gene expression. 2.- Identification of modifying genes. 3.- study of biomarkers for validation processing in spinal muscular atrophy. 4.- study of the neuromuscular junction in human development.
Hereditary breast cancer and BRCA mutations: 1. Identification of mutations and genetic variants. 2. Molecular characterization of Circulating tumor cells (CTCSS) through expression profiles in patients with f breast cancer. 3. Analysis of free circulating tumor DNA (cfDNA) as a predictor of response to the treatment of breast cancer.
Pharmacogenetics: adverse reactions to medications.
Congenital coagulopathies: Molecular Pathology of haemophilias.
Duchenne and Becker muscular dystrophy: molecular pathology of DMD gene.

Challenges

Pharmacogenetics

Colorectal and lung cancer treatments.
Chronic inflammatory disease treatment.
HIV infection treatment.

Muscular Distrophies

Post-transcriptional regulation of the dystrophin gene using nonsense-mediated decay analysis in DNA from patients with Duchenne muscular dystrophy.
Genes associated with new phenotypic forms of limb girdle muscular dystrophy.
Workflow development for the analysis of DMD gene by NGS techniques.

Hereditary Breast/Ovarian Cancer

DNA studies to classify DNA variants found in the BRCAs genes as pathogenic or neutral.
CTCs as prognostic markers in patients with locally advanced and disseminated breast cancer.
Workflow development for the analysis of BRCA1 and BRCA2 genes by NGS techniques.

Hereditary Motor Neurone Diseases

Development of neuromuscular junction studies in health and disease.
Broadening of the spectrum of motor neuron diseases to include bulbar and spinal muscular atrophy, distal muscular atrophies and amyotrophic lateral sclerosis.

Team

Group coordination

GALLANO PETIT, MARIA PIA FGS
pgallano@santpau.cat

Members

Baena Gimeno, Manel FGS

Bernal Noguera, Sara FGS

Cliville Santano, Nuria FGS

Cornet Ciurana, Monica FGS

Cusco Marti, Ivon FGS

Gonzalez Quereda, Lidia FGS

Lasa Laborde, Adriana Maria FGS

Riera Armengol, Pau FGS

Rodriguez Fernandez, Maria Jose FGS

Rodriguez Santiago, Benjamin FGS

Segarra Casas, Alba IR

Serra Juhe, Clara FGS

Tejero Laguna, Eudald IR

Vega Hanna, Lourdes Rita FGS

Scientific output

Publications 2023

(JIF 2023)

Publications 2022

(JIF 2022)

Alias L, de Heredia ML, Luna S, Cliville N, Gonzalez L, Gallano P, de Juan J, Pujol A, Diez S, Boronat S, Orus C, Lasa A, Venegas MD. Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness. Frontiers in Genetics. 2022; 13:1024742. DOI:10.3389/fgene.2022.998898. PMID:36330437. IF:3,7 (Q2/4D). Document type: Article.
Alonso J, Gonzalez L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMD, Melegh B, Hadzsiev K, Muelas N, Vilchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suarez X, Topf A, Guglieri M, Marini C, Gallano P, Straub V, Diaz J. Clinical and genetic spectrum of a large cohort of patients with delta-sarcoglycan muscular dystrophy. 2022; 145(2). DOI:10.1093/brain/awab301. PMID:34515763. IF:14,5 (Q1/1D). Document type: Article.
Alonso J, Hernandez JCD, Perez H, Mendoza MD, Gutierrez AJ, Hadjigeorgiou I, Monton F, Gonzalez L, Alonso A, Suarez X, Diaz J. Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands. EUROPEAN JOURNAL OF NEUROLOGY. 2022; 29(5). DOI:10.1111/ene.15252. PMID:35112761. IF:5,1 (Q1/2D). Document type: Article.
Blasco-Pérez L, Costa-Roger M, Leno-Colorado J, Bernal S, Alias L, Codina-Solà M, Martínez-Cruz D, Castiglioni C, Bertini E, Travaglini L, Millán JM, Aller E, Sotoca J, Juntas R, Hoei-Hansen CE, Moreno-Escribano A, Guillén-Navarro E, Costa-Comellas L, Munell F, Boronat S, Rojas-García R, Povedano M, Cuscó I, Tizzano EF. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G > C Variant in SMN2. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(15):8289. DOI:10.3390/ijms23158289. PMID:35955418. IF:5,6 (Q1/3D). Document type: Article.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez LA, Beltran S, Schlüter A, Rodriguez A, Cáceres A, Nascimento A, García À, Cueto A, Marcé A, NELLOAR, Martínez A, et al. [Díaz-Manera J, Rojas-García R, Bernal S]. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases. JOURNAL OF MOLECULAR DIAGNOSTICS. 2022; 24(5). DOI:10.1016/j.jmoldx.2022.02.003. PMID:35569879. IF:4,1 (Q2/3D). Document type: Article.
Conejo I, Mas N, Riera P, Cardenete J, Puig R, Blanco MR, De Pourcq JT. Hernia enlargement and pancreatitis in a patient with short bowel syndrome treated with teduglutide. Nutricion Hospitalaria. 2022; 39(1):03879. DOI:10.20960/nh.03879. PMID:34903028. IF:1,2 (Q4/9D). Document type: Article.
De Dios A, Masip M, Pagès N, Riera P, Mateo MG, Del Mar M, Mangues MA, Gomis M. Desarrollo de una intervención mHealth para rediseñar la ruta asistencial de las personas que viven con VIH: Estudio cualitativo. Farmacia Hospitalaria. 2022; 46. DOI:10.7399/fh.13249. PMID:36520560. Document type: Article.
Iznardo H, Bredrup C, Bernal S, Gladkauskas T, Mascaro JM, Roe E, Baselga E. Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2022; 188(4). DOI:10.1002/ajmg.a.62603. PMID:34894066. IF:2 (Q3/8D). Document type: Article.
Lucia-Campos C, Valenzuela I, Latorre-Pellicer A, Ros-Pardo D, Gil-Salvador M, Arnedo M, Puisac B, Castells N, Plaja A, Tenes A, Cuscó I, Trujillano L, Ramos FJ, Tizzano EF, Gómez-Puertas P, Pié J. A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome. 2022; 13(8):1413. DOI:10.3390/genes13081413. PMID:36011323. IF:3,5 (Q2/4D). Document type: Article.
Luque J, Mendes I, Gomez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Perez LA, Montoliu L, Carracedo A, Millan JM, Webb SM, Palau F, Lapunzina P. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative. CLINICAL GENETICS. 2022; 101(5-6). DOI:10.1111/cge.14113. PMID:35060122. IF:3,5 (Q2/4D). Document type: Review.
Medina D, Riera P, Pages N, Masip M, Lopez A, Vilarrasa E, Puig L. A cohort study of guselkumab in the treatment of psoriasis refractory to previous biologic therapies: effectiveness, safety and adherence. International Journal of Clinical Pharmacy. 2022; 44(3). DOI:10.1007/s11096-022-01400-z. PMID:35380392. IF:2,4 (Q3/8D). Document type: Article.
Miarons M, Riera P, García S, Gutiérrez F. Eficacia y seguridad de dosis altas de irinotecán en pacientes con cáncer colorrectal metastásico tratados con el esquema FOLFIRI en función del genotipo de UGT1A1: Revisión sistemática. Farmacia Hospitalaria. 2022; 46(4). DOI:10.7399/fh.11736. PMID:36183220. Document type: Review.
Paneque M, Juhe CS, Melegh B, Carreira I, Moog U, Liehr T. About the Need for Recognition of so-called Core Professional Groups within genetic Health Care in Europe. Medizinische Genetik. 2022; 34(1). DOI:10.1515/medgen-2022-2116. IF:1,1 (Q4/10D). Document type: Editorial material.
Paneque M, Liehr T, Juhe CS, Moog U, Melegh B, Carreira I. The need for recognition of core professional groups in genetics healthcare services in Europe. EUROPEAN JOURNAL OF HUMAN GENETICS. 2022; 30(6). DOI:10.1038/s41431-022-01080-3. PMID:35283482. IF:5,2 (Q1/2D). Document type: Editorial material.
Parlade E, Volta E, Cano O, Sanchez JM, Unzueta U, Lopez H, Serna N, Cano M, Rodriguez M, Vazquez E, Villaverde A. An In Silico Methodology That Facilitates Decision Making in the Engineering of Nanoscale Protein Materials. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(9):4958. DOI:10.3390/ijms23094958. PMID:35563346. IF:5,6 (Q1/3D). Document type: Article.
Pena L, Ercibengoa M, Mercadillo F, Gómez D, Inglada L, Santos M, Lanillos J, Gutiérrez D, Hernández A, Carbonell P, Letón R, Robledo M, Rodríguez C, Perea J, Urioste M, Alonso MÁ, Andrés R, Arévalo S, del Mar M, Balmaña J, Beristain E, Blanco I, Boronat M, Brunet J, Cózar MV, del Campo M, Díaz A, Gabau E, Barcina MJ, González M, Guitart M, Hernán I, Hernández HS, Hernando S, Lacambra C, Lasa A, Lastra E, Llort G, del Rosario M, Marrupe D, Martínez F, Martínez V, Martorell L, Orera M, Pedrinaci S, Pérez P, Pineda M, Plasencia AM, Cajal TR, Robles L, Rodà D, Rodríguez N, Rosell J, Sáez R, Salvat M, Sánchez A, Santana A, Soto JL, Toll A, Tuneu A, Vázquez C, Working PHTS. Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients. Orphanet Journal of Rare Diseases. 2022; 17(1):85. DOI:10.1186/s13023-021-02079-7. PMID:35227301. IF:3,7 (Q2/4D). Document type: Article.
Poyatos J, Marti P, Liquori A, Muelas N, Pitarch I, Martinez L, Rodriguez B, Gonzalez L, Damia M, Aller E, Selva M, Vilchez R, Diaz J, Alonso J, Barcena JE, Jauregui A, Gamez J, Aladren JA, Fernandez A, Montolio M, Azorin I, Hervas D, Casasus A, Nieto M, Gallano P, Sevilla T, Vilchez JJ. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion. ANNALS OF NEUROLOGY. 2022; 92(5). DOI:10.1002/ana.26461. PMID:35897138. IF:11,2 (Q1/1D). Document type: Article.
Riera P, Sole N, Suarez JC, Lopez PA, Fonts N, Rodriguez N, de Gamarra EF, Moran I. Drug-drug interactions in an intensive care unit and comparison of updates in two databases. Farmacia Hospitalaria. 2022; 46(5). DOI:10.7399/fh.13180. PMID:36183229. Document type: Article.
Sainz L, Riera P, Moya P, Bernal S, Casademont J, Diaz C, Millan AM, Park HS, Lasa A, Corominas H. Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis. 2022; 14(9):1942. DOI:10.3390/pharmaceutics14091942. PMID:36145690. IF:5,4 (Q1/2D). Document type: Article.
Sanchez JM, Carratala JV, Serna N, Unzueta U, Nolan V, Sanchez A, Volta E, Lopez H, Ferrer N, Villaverde A, Vazquez E. The Poly-Histidine Tag H6 Mediates Structural and Functional Properties of Disintegrating, Protein-Releasing Inclusion Bodies. 2022; 14(3):602. DOI:10.3390/pharmaceutics14030602. PMID:35335976. IF:5,4 (Q1/2D). Document type: Article.
Zapata L, Suarez JC, Flores MN, Morales EM, Segarra A, Santos JA. Acute cor pulmonale in patients with acute respiratory distress syndrome due to COVID-19. Medicina Intensiva. 2022; 46(11). DOI:10.1016/j.medin.2021.12.016. PMID:35079192. IF:3 (Q3/7D). Document type: Letter.

Publications 2021

Alvaro S, Abreu I, Abuli A, Serra C, Garrido MD. Current Status of Genetic Counselling for Rare Diseases in Spain. Diagnostics. 2021; 11(12):2320. DOI:10.3390/diagnostics11122320. PMID:34943558. IF:3,992.
Bernal S, Pelaez I, Alias L, Baena M, De Pablo JA, Serrano LJ, Camero MD, Tizzano EF, Berrueco R, Liras A. High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2021; 22(18):9705. DOI:10.3390/ijms22189705. PMID:34575869. IF: 6,208.
Blasco L, Paramonov I, Leno J, Bernal S, Alias L, Fuentes P, Cusco I, Tizzano EF. Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients. HUMAN MUTATION. 2021; 42(6). DOI:10.1002/humu.24200. PMID:33739559. IF:4,700.
Castells L, Gutierrez S, Bonache S, Bogliolo M, Carrasco E, Aza M, Montalban G, Munoz N, Pujol R, Cruz C, Llop A, Ramirez MJ, Saura C, Lasa A, Serra V, Diez O, Balmana J, Surralles J. Clinical consequences of BRCA2 hypomorphism. npj Breast Cancer. 2021; 7(1):117. DOI:10.1038/s41523-021-00322-9. PMID:34504103. IF:7,519.
Castells L, Tejero E, Rodriguez B, Surralles J. CRISPR Screens in Synthetic Lethality and Combinatorial Therapies for Cancer. Cancers. 2021; 13(7):1591. DOI:10.3390/cancers13071591. PMID:33808217. IF: 575 6,639.
Crespo A, Bernal S, del Rio E, Rojas E, Martinez C, Marina N, Pallares A, Pascual S, Garcia JL, Padilla A, Curto E, Cisneros C, Serrano J, Baiget M, Plaza V. Association of the CFTR gene with asthma and airway mucus hypersecretion. PLoS One. 2021; 16(6):e0251881. DOI:10.1371/journal.pone.0251881. PMID:34086689. IF:3,752.
Garcia C, Roe E, Rodriguez B, Amat V, Cubiro X, Puig L, Boronat S. A case report of PHF6 mosaicism: Beyond the classic Borjeson-Forssman-Lehmann syndrome. PEDIATRIC DERMATOLOGY. 2021; 38(4). DOI:10.1111/pde.14636. PMID:34041787. IF:1,997.
Gonzalez-Quereda L, Pagola I, Fuentes Prior P, Bernal S, Rodriguez MJ, Torné L, Salgado Garrido J, Gallano P, Jericó I. Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease. Annals of Clinical and Translational Neurology. 2021;8(1):294-299. DOI:10.1002/acn3.51265. PMID: 33275839. IF:5,430.
Lopez C, Falla LM, Roe E, Arostegui JI, Mozos A, Bernal S, Iznardo H, Baselga E. Excellent response to secukinumab in an infant with severe generalized pustular psoriasis. JOURNAL OF DERMATOLOGY. 2021; 48(6). DOI:10.1111/1346-8138.15673. PMID:33543522. IF:3,468.
Natera D, Ortez C, Jou C, Jimenez C, Codina A, Carrera L, Exposito J, Cesar S, Martorell L, Gallano P, Gonzalez L, Cuadras D, Colomer J, Yubero D, Palau F, Nascimento A. The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort. PEDIATRIC NEUROLOGY. 2021; 115. DOI:10.1016/j.pediatrneurol.2020.11.002. PMID:33333461. IF:4,210.
Riera P, Paez D. Elucidating the role of pharmacogenetics in irinotecan efficacy and adverse events in metastatic colorectal cancer patients. Expert Opinion on Drug Metabolism & Toxicology. 2021; 17(10). DOI:10.1080/17425255.2021.1974397. PMID:34486919. IF:4,936.
Rovira-Moreno E, Abuli A, Codina-Sola M, Valenzuela I, Serra-Juhe C, Cuscó I, Borregán M, Cueto-González A, Vendrell T, López-Grondona F, Brun-Gasca C, Brignani E, Martínez-Ribot L, Garci-Espejo R, Cruz J, García-Arumí E, Tizzano EF. Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases. Journal of Genetic Counseling. 2021;30(3):693-700. DOI:10.1002/jgc4.1354. PMID: 33142000. IF:2,717.

NEUROLOGICAL DISEASES, NEUROSCIENCE & MENTAL HEALTH

Genetic Diseases

Main lines of research

Challenges

Pharmacogenetics

Muscular Distrophies

Hereditary Breast/Ovarian Cancer

Hereditary Motor Neurone Diseases

Group coordination

Members

Publications 2023

Publications 2022

Publications 2021

Main lines of research

Challenges

Pharmacogenetics

Muscular Distrophies

Hereditary Breast/Ovarian Cancer

Hereditary Motor Neurone Diseases

Group coordination

Members

Publications 2023

Publications 2022

Publications 2021

Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau