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Most relevant scientific articles
• zapatero-solana e, García-Giménez J, Guerrero-aspizua s, García m, toll a, baselGa e, Durán-moreno m, et al . Oxidative stress and mitochondrial dysfunction in Kindler syndrome . Orphanet J Rare Dis . 2014 Dec 21;9(1):211 .
• Duarte b, miselli F, murillas r, espinosa-HeVia l, ciGuDosa Jc, reccHia a, et al . Long-term skin regeneration from a gene-targeted human epidermal stem cell clone . Mol Ther . 2014 Nov;22(11):1878-80 .
• Kiritsi D, Garcia m, branDer r, Has c, meiJer r, escámez mJ, et al . Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa . J Invest Dermatol . 2014 Aug;134(8):2097-104 .
• puiG-butille Ja, escámez mJ, Garcia-Garcia F, tell-marti G, Fabra à, martínez-santamaría l, et al . Captu- ring the biological impact of CDKN2A and MC1R genes as an early predisposing event in melanoma and non melanoma skin cancer . Oncotarget . 2014 Mar 30;5(6):1439-51 .
• GostynsKi a, llames s, García m, escamez mJ, martinez-santamaria l, niJenHuis m, et al . Long-term survival of type XVII collagen revertant cells in an animal model of revertant cell therapy . J Invest Dermatol . 2014 Feb;134(2):571-4 .
Highlights
Institution: Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) Contact: Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) . Avda . Complutense, 40 . Edificio 70A, 28040 MADRID · Phone: (+34) 91 624 82 10
• Orphan drug designation: “Allogeneic adipose-derived adult mesenchymal stem cells contained in a fibrin-based bioengineered dermis” (EU/3/14/1407) . Indication: Treatment of epidermolysis bullosa . EMEA: EMA/OD/197/14
• Cátedra de Investigación in Regenerative Medicine and Tissue Engineering with the IIS-Fundación Jiménez Díaz to enhance translational research on rare diseases .
• Research projects granted: project SAF2013-43475-R (PI: M . Del Río), clinical research project ICC114/032 (led by MJ . Escamez) y project IP14/00931 (led byF . Larcher) .
• Clinical trials: - Start-up of phase I/II clinical trial at the Hospital La Paz in Madrid that consist on the use of mesenchymal stem cells for the treatment of mucosal fragility in patients with epidermolysis bullosa - Recruitment of patients in the European project GENEGRAFT (“Phase I/II ex vivo gene thera- py clinical trial for recessive dystrophic epidermolysis bullosa using skin equivalent grafts genetically corrected with a COL7A1-encoding SIN retroviral vector”) - Proposed clinical trial for lamellar ichth- yosis that has been submitted and selected for the “2nd Stage” in the H2020 program, topic: PHC- 14-2015: “New therapies for rare diseases” . This proposal involves basic and clinical groups and the company Pierre Fabre (France) .
• 3 ACCI projects (CIBERER) in which our unit collaborate with other CIBERER units (u701, u715, u726 and u733)
• Transfer of research to the industry: generation of a spin-off, license of 2 patents, know-how transfer of the orphan drug EU/3/14/1407 to the GMP facility of the Hospital Niño Jesús .
• Organization of seminars and conferences: - “II International Day of Xeroderma Pigmentosum and other DNA repair and premature aging disea-
ses”, held at the Fundación Jiménez Díaz (10/12/2014) . Event cofinancied by CIBERER .
- Sponsorship (in 2014) by the Ramón Areces Foundation for the symposium: “Rare Diseases: breaking paradigms”, that we are organizing nowadays .
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