Page 86 - MemoriaCIBER-2017ENG

Dear colleagues,
Our research has a clearly translational ap- proach, in order to seek diagnoses and therapies for the greatest possible number of Rare Diseas- es (RD) By incorporating mass sequencing tech- nologies in genetic analysis, we have identi ed the genes responsible for a large number of RD This has meant that it has been possible to de- velop new applications and biological tests, that are being implemented on a large scale in prena- tal and postnatal diagnosis of genetic diseases To speed up this progress in genetic research it is vital to get under way the National Genomic Medicine Plan, which is currently being debated at the Senate, so as to be able to provide a trans- versal response to the diagnosis needs arising through RD
In the therapeutic eld, we are promoting six or- phan drugs in Europe, four of which have also been designated as such in the United States We are also already working on clinical trials in advanced stages to obtain treatments with avant-garde techniques with gene therapy
I would lastly like to take this opportunity to stress the work done side by side with those a ected Our commitment to the FEDER (Federación Es- pañola de Enfermedades Raras) and to the other organisations of those a ected is not only sim- ply continuing, but something we are working on day by day to shore this up and increase it in the coming years
In this respect we have included patients’ associ- ations in di erent bodies of the CIBERER, such as the External Advisory Scienti c Committee and the Patients’ Advisory Board Together we are making progress and will continue to do so in or- der to accomplish these goals
I would like to thank all the members of the CIBERER for the work done every day in the ben- e t of the persons a ected by RD, as re ected below in this new edition of the CIBERER scien- ti c report
Scienti c Director’s Presentation
Pablo Lapunzina Badia
86 CIBER ANNUAL REPORT 2017