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Most relevant scientific articles
• G.liu, K.suzuKi, m.li, J.qu, n.montserrat, c.tarantino, y.Gu, F.yi, x.xu, W. zHanG, s.ruiz, n.plonGtHonGKum, K.zHanG, s.masuDa, e.niVet, y.tsuneKaWa, r. D.soliGalla, a.Goebl, e.aizaWa, n.y.Kim, J.Kim, i.DuboVa, y.li, r.ren, c. benner, a.Del sol, J.bueren, J.p.truJillo, J.surralles, e.cappelli, c.DuFour, c.roDríGuez esteban anD J. c.izpisua . Modeling Fanconi Anemia pathogenesis and therapeutics using integration-free patient iPSCs . Nature Communications 2014, 5:4330-4336 .
• río p, r.baños, a.lombarDo, o.quintana-bustamante, l.alVarez, z.Garate1, p.GenoVese, e.almarza, a.Valeri, b.Díez, s.naVarro, y.torres, J.p.truJillo, r.murillas, J.c.seGoVia, e.samper, J. surralles, p.D.GreGory, m.c.Holmes, l.nalDini, J.a.bueren (2014) . Targeted Gene Therapy and Cell Reprogramming in Fanco- niAnemia . EMBO Mol Therapy 6:835-48
• a.aulinas, m.J.ramírez, m.J.baraHona, e.Valassi, e.resmini, e.mato, a.santos, i.crespo, o.bell, J.surralles, anD s.Webb (2014) Telomere length analysis in Cushing’s syndrome . Eur J Endocrinol . 171:21-9 .
• truJillo JP and J surralles (2014) Savior siblings and Fanconi anemia: analysis of success rates from the family’s perspective . Genetics in Medicine (acceptado)
• boGliolo m and J surrallés (2014) Fanconi anemia: from novel genes to advanced therapies . Current Opinion in Genetics and Development (invited review; aceptado)
Highlights
Institution: Universidad Autónoma de Barcelona Contact: Facultad de Biociencias . Edificio C . 08193 Bellaterra, Cerdanyola del Vallès . Barcelona Tel .: (+34) 9935811830 / 935868051 (Lab Manager: Ana Molina) E .mail: Jordi .surralles@uab .cat · Website: http://gig .uab .cat
During 2014 we developed new therapeutic strategies in Fanconi anemia based on genome editing . We performed therapeutic research both in vitro (cell based screening system development to test libraries o selected compunds) and in vivo, both in mice models and as part of a gene therapy clinical trial where our team participates . In this framework, five Fanconi anemia patients have been recruited in the first phase of the clinical trial aimed to mobilize and collect hematopoietic stem cells from Fanconi anemia patients . We also discovered additional components involved in interstrand cross link repair and homologous recombination with a role in cancer predisposition and prognosis that are currently under patentability study . Whole exome sequencing of 60 Fanconi anemia and Fanconi anemia-like individuals have been done in order to genetically characterize patients and find new candidate genes . We finalized the SNP array analysis of 135 patient’s samples to detect bone marrow clonal cytogenetic events in blood DNA . We finally collaborated in a research project on the pathophysiology of Cushing syndrome .
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