Page 111 - CIBERER2016-ENG

Most relevant scientific articles
• Saez M.A., Fernandez-Rodriguez J., Moutinho C., Sanchez-Mut J.V., Gomez A., Vidal E. et al. Mutations in JMJD1C are involved in Rett syndrome and intellectual disability. Genetics in Medicine. 2016;18(4):378-385.
• Alvarez-Mora M.I., Rodriguez-Revenga L., Madrigal I., Guitart-Mampel M., Garrabou G., Mila M. Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS. Molecular Neurobiology. 2016;1-7.
• Puig S., Potrony M., Cuellar F., Puig-Butille J.A., Carrera C., Aguilera P. et al. Characterization of individuals at high risk of developing melanoma in Latin America: Bases for genetic counseling in melanoma. Genetics in Medicine. 2016;18(7):727-736.
• Potrony M., Carreras E., Aranda F., Zimmer L., Puig-Butille J.-A., Tell-Marti G. et al. Inherited functional variants of the lymphocyte receptor CD5 influence melanoma survival. International Journal of Cancer. 2016.
• Brugues A., Gamboa M., Alos L., Carrera C., Malvehy J., Puig S.. The challenging diagnosis of eccrine poromas. Journal of the American Academy of Dermatology. 2016;74(6):e113-e115.
Hightlights
We belong to the Pediatric Medicine and Development Program and our main areas of interest are in
the fields of clinical and molecular genetics. The research activity is focused on the genetic basis of
rare diseases, mainly neurodevelopmental disorders, genodermatosis and familial cancer. Our group performs its research activity closely linked to daily clinical practice; we are a clinical-translational
group. Throughout this year, the U726 unit has worked in 3 projects of Health Research (FIS) awarded
by the ISCIII, a collaborative project financed by the Fundació La Marató de TV3 and an ACCI project in collaboration with the U714 financed by CIBERer . Within the framework of CIBERER and together with units U-735, U-753, U715 and four clinical units, a project of the Carlos III institute has been achieved, evidencing the collaboration with other CIBERER groups (publications and collaborative project) We
have also participated in a collaborative project of national scope granted by the AECC. At the clinical level, our unit has led the DIAGNÒPTICS project funded by the European Commission and has given the XVIII dermatoscopy fundamental course held in Barcelona. We have actively collaborated with patient associations of Fragile Syndrome X and Melanoma. We have edited 2 books and a special issue of The Cerebellum journal, related to the pathologies associated to the FMR1 gene. We believe that our group
in collaboration with others from CIBERER or other CIBERs can contribute to the improvement of pre- symptomatic, prenatal and postnatal genetic diagnosis, we also can be a translational platform for other more basic groups providing clinical information, patients, samples and collaborating in the identification of genetic mutations and new genes.
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research groups 111