Page 73 - CIBERER2016-ENG

Most relevant scientific articles
• Chamorro C., Mencia A., Almarza D., Duarte B., Buning H., Sallach J. et al. Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes. Molecular Therapy - Nucleic Acids. 2016;5.
• Luchetti M.M., Moroncini G., Jose Escamez M., Svegliati Baroni S., Spadoni T., Grieco A. et al. Induction of Scleroderma Fibrosis in Skin-Humanized Mice by Administration of Anti−Platelet-Derived Growth Factor Receptor Agonistic Autoantibodies. Arthritis and Rheumatology. 2016;68(9):2263-2273.
• Carretero M., Guerrero-Aspizua S., Illera N., Galvez V., Navarro M., Garcia-Garcia F. et al. Differential features between chronic skin inflammatory diseases revealed in skin-humanized psoriasis and atopic dermatitis mouse models. Journal of Investigative Dermatology. 2016;136(1):136-145.
• Mencia A., Garcia M., Garcia E., Llames S., Charlesworth A., de Lucas R. et al. Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia. Experimental Dermatology. 2016;25(4):269-274.
• Alameda J.P., Navarro M., Ramirez A., Page A., Suarez-Cabrera C., Moreno-Maldonado R. et al. IKKα regulates the stratification and differentiation of the epidermis: Implications for skin cancer development. Oncotarget. 2016;7(47):76779-76792.
Hightlights
During 2016 we continued our studies on the pathogenic mechanisms of various rare skin diseases and
the development of therapeutical approaches translatable to the clinic. Noteworthy are the results on correction of recessive dystrophic epidermolysis bullosa (EBDR) using an ex vivo personalized gene- editing strategy (PMID 27045209). Also noteworthy are the results regarding the pathogenic mechanism
of Cutaneous Scleroderma (PMID 27111463) and Familiar Melanoma (PMID 28030792, intra-CIBER collaboration) published in high-impact journals. Our work on gene editing allowed us to obtain funding (competitive concurrence) from DEBRA International, the Patient Association of Epidermolysis Bullosa (EB). We also obtained DEBRA España support to continue the research and genetic diagnosis of EB in our unit, through donations made to CIBERER for the co-financing of the clinical trial of cell therapy (Eudra CT 2015- 001272- 21) and the hiring of a molecular geneticist during 2017. We participated in 3 European projects, one of them funded in 2016 by the European Academy of Dermatology and Venereology: “Novel serological biomarkers for early non-invasive diagnosis and monitoring of squamous cell carcinoma (SCC) in inherited epidermolysis bullosa: a multicenter European study “. In the area of translation, we are also involved in the implementation of two other international trials (EBGEN and GENEGRAFT) and in the treatment of patients with EBDr. in Vall D’hebron Hospital through compassionate uses approved by the AEMPS using tissue engineering products.
We have prepared a guide of recommendations for the molecular diagnosis of EB in Spain (intra CIBERER collaboration) that will be published in the official journal of the Academy of Dermatology. We also participated in the panel of experts for the development of the guide “Clinical practice guidelines for laboratory diagnosis of Epidermolysis bullosa” funded by DEBRA International. In addition, within the dissemination activities, we have organized the International Symposium “Rare Diseases of the Skin:
From Clinic to Gene and vice versa” sponsored by CIBERER and the Ramón Areces Foundation in which renowned researchers presented the most recent advances in Diagnosis and treatment of genodermatoses.
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