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Most relevant scientific articles
• 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.
• Roma-Mateo C., Raththagala M., Gentry M.S., Sanz P. Assessing the biological activity of the glucan phosphatase laforin. Methods in Molecular Biology. 2016; 1447:107-119.
• Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).Autophagy. 2016;12(1):1-222.
Hightlights
Among the scientific activity of the research group, remarkable achievements are the European patent “Mass spectrometry-based methods for the detection of circulating histones H3 and H2B in plasma from sepsis or septic shock (ss) patients (EP 16 382 509.4)”, and the extension to PCT phase (PCT/EP2016/063935) and transference to the CIBER spin-off EpiDisease, S. L.,of the patent “Kit and method for the diagnosis/ prognosis of idiophatic scoliosis”.
In reference to acquisition of budget and resources, funding from the following programs and grants has been obtained: VLC-Bioclinic (1 project, 2016), Grupo Español de Estudio del Raquis (1 project, 2016-2017), Plan Nacional I+D+i del Mineco (1 project, 2016-2019), AES 2016 (2 projects, 2017-2019), Fundación Ramón Areces (1 project, 2017-2019).
Regarding teaching and outreach activities, the group has maintained the teaching of the subject “Enfermedades raras”, from the Grade on Medicine’s study plan at the University of Valencia; and also in the “Máster de enfermedades raras”, directed by Dr. Pallardó, a tthe same University. Besides, it was organized, in collaboration with the Escuela Valenciana de Estudios de la Salud and the CIBERER, the 1st edition of the on-line course “Introducción a las EE.RR: investigación y atención clínica” addressed to residents of medical specialities from the Valencian public health system. In the context of scientific outreach activities, Dr. Romá-Mateo has published the book “¿Qué sabemos de? La epigenética” (ISBN: 978-84-00-10073-5).
Within the framework of the Alliance for translational research in rare diseases of the Comunitat Valenciana, Dr. Pallardó has coordinated the joint appliance for FEDER funding for acquisition of research infraestructure. Recently, the Conselleria de Sanitat has confirmed availability of those funds (3.000.000 €) for 2017. Accordingly, the conference “I Congreso de Investigación Traslacional en EE.RR. de la CV” was held at the Faculty of Medicine and Dentistry, University of Valencia, on February 25th-26th 2016.
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