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Most relevant scientific articles
• Sevilla T., Lupo V., Martinez-Rubio D., Sancho P., Sivera R., Chumillas M.I.J. et al. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain. 2016;139(1):62-72.
• Molla B., Riveiro F., Bolinches-Amoros A., Munoz-Lasso D.C., Palau F., Gonzalez-Cabo P. Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich’s ataxia. DMM Disease Models and Mechanisms. 2016;9(6):647-657.
• Yubero D., Brandi N., Ormazabal A., Garcia-Cazorla A., Perez-Duenas B., Campistol J. et al. Targeted next generation sequencing in patients with inborn errors of metabolism. PLoS ONE. 2016;11(5).
• Lupo V., Garcia-Garcia F., Sancho P., Tello C., Garcia-Romero M., Villarreal L. et al. Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. Journal of Molecular Diagnostics. 2016;18(2):225-234.
• Prieto J., Leon M., Ponsoda X., Garcia-Garcia F., Bort R., Serna E. et al. Dysfunctional mitochondrial fission impairs cell reprogramming. Cell Cycle. 2016;15(23):3240-3250.
Hightlights
Highlights of the Group in 2016:
• Discovery of a new gene, MORC2, as a cause of axonal Charcot-Marie-Tooth neuropathy with autosomal dominant inheritance, in collaboration with Group 761 of the Hospital La Fe (Dr. T. Sevilla and J. Vílchez). It is a form of onset illness in the first decade of life with progressive course and many patients require wheelchair into the half-life. Additional features include proximal and early asymmetrical limb weakness, deafness, and developmental delay.
• Description, in the murine model YG8R of Friedreich’s ataxia, of the neurobiological and axonal processes of the dying-back phenomenon and cellular senescence in the pancreas as pathogenic mechanisms of the disease.
• Application of genomic techniques of NGS in the genetic diagnosis of Charcot-Marie-Tooth disease and, as a collaborator with the group 703 of R. Artuch, in hereditary metabolic diseases.
Among the competitive projects, it is worth mentioning: (1) Study of the pathophysiology of mitochondrial Charcot-Marie-Tooth disease and other genetic axonopathies funded by MINECO, SAF2012-32425 (extension 2016) and SAF2015-66625-R (1st annual). (2) Study on clinical and functional genomics of neurogenetic and neurodevelopmental disorders, including the NeuroPaisaje project, funded by CIBERER (ACCI12-2105) and the Isabel Gemio Foundation, and the GenomicInnova project for technological development in health (DTS16/00196) financed by ISCIII. (3) GenomicScientia - Center for Genomic Sciences in Medicine of the Institut de Recerca Sant Joan de Déu, funded by the 2015 FEDER/S-21 project of the Singular Installation programme of the Generalitat de Catalunya.
We have participated in the editing and writing of the book ‘Ética de la Investigación en Enfermedades Raras’. Ediciones Ergon, Madrid, 2016, by C. Ayuso, R. Dal-Ré and F. Palau. ISBN: 978-84-16270-85-9.
Coordination of Orphanet-Spain team http://www.orpha.net/national/ES-ES/index/inicio/
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