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As regards signi cant scienti c progress, the culmination of the longitudinal study on growth of healthy and non-obese population in Barcelona carried out by the Group led by A Carrascosa and which includes data on 742 girls and 710 boys and in which over 25,000 anthropometric evaluations have been made, valuing the weight and size from birth until reaching the adult size in each of these The results of this study provide a tool which is enabling changing clinical practice by establishing di erent patterns of normality, thus freeing paediatricians from single and rigid references which led to unnecessary in- terventions and furthermore covered up possible problems which did not get a timely intervention, all depending on whether they were later or early-maturing This data constitutes a world rst and the WHO itself has got contacts under way to take these as a reference
Inherited Cancer, Haematological and Dermatological Diseases Coordinator: Juan Antonio Bueren Roncero
In 2017 the groups in this research programme went on working towards IRDIRC objectives In this re- spect, several scienti c events were promoted, such as the programme’s own scienti c meeting, which took place at the CNIO in November, the VIII International Congress of the Red Española de Investigación in Fanconi Anaemia and the Genome Instability Network of Barcelona (GINBAR) Meeting
With regard to therapeutic developments, we can stress the signing of several major co-development and world licensing agreements and the exclusive on vectors of gene therapy generated by Juan Buer- en’s group on new treatments against rare diseases a ecting blood cells One can also stress the work of Marcela de Río’s group focussing on new therapeutic approaches for epidermolysis bullosa, speci - cally therapies based on targeted-RNA and gene edition of COL7A1 by CRISPR/Cas9 published in Nucleic Acids Res and Mol Ther respectively
Another milestone to be stressed is the work done at Javier Benítez’s group, where pathway STAT3 is identi ed as a potential therapeutic target for certain endocrine tumours The article published in Clin Cancer Res
As regards new discoveries with application in diagnosis, Jordi Surrallés’s group has taken part in a work published in J Clin Invest which has identi ed a new gene (RFWD3) causing Fanconi anaemia, an inherited disease caused by mutations in some of the genes connected with DNA repair This group has also identi ed a new genetic syndrome caused by mutations in both copies of the FANCM gene, these results being published in Genet Med
A study performed by Vicente Vicente’s group has identi ed new mutations in the main endogenous anticoagulant, antithrombin, which causes antithrombin de ciency in patients with thromboses The results of this work were published in the Journal of Biological Chemistry
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