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Most relevant scientific articles
Research Groups
mencía a, garcía m, garcía e, et al. Identification of two rare and novel large deletions in ITGB4 gene causing ep- idermolysis bullosa with pyloric atresia. Exp Dermatol 2016 [Epub ahead of print].
PereZ cJ, mecKlenBurg l, JauBert J, et al. Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 gene. J Invest Dermatol. 2015;135:3133-43.
llames s, garcía-PéreZ e, meana á, et al. Feeder Lay- er Cell Actions and Applications. Tissue Eng Part B Rev 2015; 21:345-53.
larcher F, del río m. Innovative therapeutic strategies for recessive dystrophic epidermolysis bullosa. Actas Dermo- sifiliogr 2015; 106:376-82.
guerrero-asPiZua s, larcher F, del río m, et al. Tumor initiation by skin Ha-ras-ment. Exp Dermatol 2015; 24:252-3.
Highlights
During 2015 we highlight two new clinical trials in which the U714 started to be involved. One at the European level, “Study of immune tolerance and capacity for wound healing of Patients with Reces- sive Dystrophic Epidermolysis Bullosa” (EBGene- NCT01874769) and the other at national level: “Study of safety and preliminary efficacy of mesenchymal stem cell derived from adipose tissue for treating re- cessive dystrophic epidermolysis bullosa “(EudraCT 2015-001272-21). It is also to distinguish that dur- ing 2015, 3 COMPASSIONATE USE using a product developed by our team (http://patentscope.wipo. int/search/en/WO2002072800) were approved by the AEMPS and applied in Plató and Vall d’Hebron hospitals for the treatment of chronic ulcers in pa- tients with epidermolysis bullosa.
It is also necessary to highlight our activity in the molecular diagnosis of genodermatosis (http:// www.orpha.net). As well as in patient registries integrated in SpainRDR. In addition, since 2015, the U714 is part of “EB-Clinet - EB Clinical Network of Centres and Experts” (http://www.eb-clinet.org) and has strengthen the collaboration with other patient
organizations, in this case, Berritxuak (http://www. berritxuak.org). Finally, we participated along with other researchers and dermatologists in the creation of the “European Xeroderma Pigmentosum (XP) Society” which was presented in October 2015 and is recognized by European Academy of Dermatology and Venereology.
Related to competitive funding, we emphasize dur- ing 2015 the following grants: 2 AES (PI014 / 00931 and ICI14 / 00363 PI: MJ.Escámez CIBERER post- doc contract), 1 Plan Estatal (SAF2013-43475- R), 1 INNPACTO and 2 Autonomic projects. As for private financing, we underline that granted by Berritxuak patient association. In 2015 the European project NanoSmell H2020-FETOPEN-2014-2015-RIA Pro- ject reference: 662629 was also funded.
Finally, we also like to point out the most impor- tant collaborations within CIBERER such as those including U716 and U710 for the preparation of the chapter: “Advanced Therapies for Rare Diseases” Revista Arbor, with the U704 for the development of a clinical guideline, with the U758 for patient registry and with U726 in the context of an ACCI project.
Institution: Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) Contact: Avda. Complutense, 40. Edificio 70A. 28040 Madrid · Tel.: 91 624 82 10
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