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Most relevant scientific articles
• De Castro-Miro M., Tonda R., Escudero-Ferruz P., Andres R., Mayor-Lorenzo A., Castro J. et al. Novel candidate genes and a wide spectrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing. PLoS ONE. 2016;11(12).
• Esquerdo M., Grau-Bove X., Garanto A., Toulis V., Garcia-Monclus S., Millo E. et al. Expression Atlas of the Deubiquitinating Enzymes in the Adult Mouse Retina, Their Evolutionary Diversification and Phenotypic Roles. PLoS ONE. 2016;11(3).
• Masoumi K.C., Marfany G., Wu Y., Massoumi R. Putative role of SUMOylation in controlling the activity of deubiquitinating enzymes in cancer. Future Oncology. 2016;12(4):565-574.
Hightlights
During 2016, our research group U718 changed PIs. Currently, Gemma Marfany is the PI, in substitution of Professor Roser Gonzalez.
Among the most relevant scientific activities, we generated two new murine retinal dystrophy models – bearing large or small deletions– using CRISPR/Cas9. The project was initiated with Acción Intramural del CIBERER, ACCI2015- MODCELANI_CRISPR, in a joint project leaded by Lluis Montoliu, IP of the U756 group, and it is now ongoing with a new ACCI 2016_FENOCRISPR, which aims to phenotype CRISPR-generated models. Our extensive studies in animal models led us to the publication of a protocol that compared gene expression in mouse and zebrafish to perform functional knockdown assays by morpholino microinjection in zebrafish embryos (published in Methods in Molecular Biology, Toulis et al., 2016, not included in this scientific report). Moreover, new candidate RP genes were identified in a cohort analyzed by whole exome sequencing (WES), using a prioritized pipeline. We have closely worked together with patients and their associations, by organizing several workshops 2015 (with other CIBERER groups ) and 2016.
In brief, during 2016 our group has: 1) produced three articles and one protocol directly associated to rare diseases; 2) contributed to international (four) and national (eight) congresses; 3) raised grants within CIBER for implementation of ACCI-2015, and the newly granted ACCI-2016; 4) raised new competitive funds in the Programa Nacional de Retos para la sociedad (2017-2019 funding); 5) organized one scientific (october 2015) and one patient-driven (october 2016) workshops on rare diseases, always considering patients, families and their associations; 6) participaded in congresses and meetings organized by patient associations, e.g. FEDER (november 2016); 7) contributed to a european COST action aiming to the training and networking of young scientists across many european countries (PROTEOSTASIS BM1307).
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