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Research groups

Human molecular genetics I

2017_provisional_gonzalez

Coordinator: Roser Gonzàlez

This group concerns monogenic disorders associated to different degrees of genetic heterogeneity, from those of lysosomal origin to retinitis pigmentosa. Our first aim was to identify new candidate genes, disease-causing mutations and to analyse the structural and functional features of the mutant alleles. As a continuation of our work, we aim to perform functional studies at the cellular and tissular level, the construction of animal models and new strategies for diagnosis and therapy

Team

  • Senior researcher: Gemma Marfany Nadal
  • Postdoc – associate researcher: Rosa Andrés Ventura
  • PhD Student: Marta de Castro Miró, Víctor Abad Morales, Mariona Esquerdo Barragán, Elena Borrego Domènech, Vasileios Toulis

Selected projects

  • Modelos animales para las distrofias de retina: estrategias de edición genómica, fenotipado y nanoterapia. Ministerio de Economía y Competitividad. PI: Gemma Marfany. CoPI: Roser González Duarte. December 2016 – December 2019
  • Conveni de col·laboració per al desenvolupament del projecte 'Construcción de un nuevo modelo de retinosis pigmentaria y estudio de su utilidad para ensayos de terapias neuroprotectoras'. Organización Nacional de Ciegos Españoles (ONCE). PI: Roser González Duarte. August 2016 – August 2017
  • Contractes de recerca/servei diagnòstic. Tripartit entre FBG-UB, HSJD, Spark Therapeutics Inc. PI: Roser González Duarte. November 2016 – October 2020
  • Dissecting protein trafficking in retinal neurodegeneration by super-resolution imaging on animal models and human iPSCs. Fundació La Marató de TV3. PI: Roser González Duarte. January 2015 – December 2017

Selected publications in 2016

  • Esquerdo M, Grau-Bové X, Garanto A, Toulis V, Garcia-Monclús S, Millo E, López-Iniesta MJ, Abad-Morales V, Ruiz-Trillo I, Marfany G. Expression Atlas of the Deubiquitinating Enzymes in the Adult Mouse Retina, Their Evolutionary Diversification and Phenotypic Roles.PLoS One 2016. FI: 3,057(Q1)
  • de Castro-Miró M, Tonda R, Escudero-Ferruz P, Andrés R, Mayor-Lorenzo A, Castro J, Ciccioli M, Hidalgo DA, Rodríguez-Ezcurra JJ, Farrando J, Pérez-Santonja JJ, Cormand B, Marfany G, Gonzàlez-Duarte R. Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. PLoS One 2016.  FI: 3,057(Q1)
  • Masoumi KC, Marfany G, Wu Y, Massoumi R. Putative role of SUMOylation in controlling the activity of deubiquitinating enzymes in cancer. Future Oncol 2016. 12: 565-574. FI: 2,129(Q3)