Page 3 - CIBERER-2015-eng

Scientific Director’s Presentation
2015 was a year of hard work, going on with the main strategic measures which were specified in the Action Plan. We continued to consolidate our endeavours as a national and international bench- mark in research into rare diseases (RD). All this is done through cooperation of the different organ- isations in the consortium and research groups forming the CIBERER, but also thanks to the com- mitted work of national and international policies in the field of infrequently found diseases.
With this in mind, there are a number of tools that we continue to consider essential for our network activity in RD to be effective and to respond to the mission that we have been entrusted with, which is innovation and cooperation on all levels.
Innovation is a fundamental aim of our trans- lational research. That is why our work takes a comprehensive approach ranging from diagnos- tic developments and new therapies to health- care organisational models. We could stress the application for three European patents for new therapeutic developments in RD and obtaining the designation of orphan drugs by the European Medicines Agency for bazedoxifene acetate, indi- cated for Hereditary Haemorrhagic Telangiectasia (HHT), led by Carmelo Bernabeu (U707). As far as diagnosis is concerned, Federico Pallardó’s group (U733) has patented a new diagnostic method for idiopathic scoliosis. A large number of tools have been developed for new generation diagnosis and thanks to our ENoD programme (Undiagnosed Rare Diseases) and the BIER platform, the implica- tion of new genes in many minority disorders has been discovered.
As regards cooperative networking I would like to stress several achievements. First of all, CIBER- ER’s participation in the Joint Action on Rare Dis- eases (RD Action) financed by the European Com- mission, as a basic instrument for implementing information processing with the Orphanet and Community policies on RD. The second is the culmination of the TREAT-CMT project, made up of a multidisciplinary team of twelve groups and financed by the ISCIII in the framework of the IRD- iRC. As regards scientific findings we should high- light the implication of the MORC2 gene in Char- cot-Maire-Tooth neuropathy led by the groups of Juan Vílchez (U763) and Francesc Palau (U732). Thirdly, our commitment to our own projects such as the eleven new Cooperative and Complemen- tary Intramural Actions (ACCI) and the two trans- lational research projects led by our linked clinical groups, reinforcing our orientation towards provid- ing solutions that are useful in clinical practice.
I would lastly like to highlight the fact that two new groups which are doubtlessly going to bolster our leadership in RD over the coming years have joined our network. These are the group led by Josep Dal- mau of the IDIBAPS in Barcelona, focussing on the identification and description of autoimmune pro- cesses of the nervous system, and the group led by Vicente Vicente from the Instituto Murciano de Investigación Biosanitaria, a reference in the typifi- cation and characterisation of RD such as throm- bopathies and inherited thrombophilia.
Francesc Palau,
Scientific Director of CIBERER.
CIBERER I Annual report 2015 I 3