Page 3 - CIBERER2016-ENG

Pablo Lapunzina, Scientific Director
Scientific Director’s Presentation
CIBERER is celebrating the 10th anniversary of its creation in November 2006. The CIBER model is a vital pillar for this country’s biomedical research. Having an identity as a centre is a major step forward with regard to the networks; having a management structure and the ability to apply our own scientific strategy is a key matter for undertaking cooperative research and its coordination.
CIBERER is the national benchmark network for research into rare diseases (RD) and because of our multidisciplinary nature, we obtain results in a large number of groups of rare pathologies. Our advantage is being the only state centre that is capable of connecting the generation of basic knowledge with its clinical application. Because of their complexity and diversity, RD require diversified and network research, the accumulation of all the new technologies available and specific knowledge in each pathology, in order to obtain the best research results. CIBERER is now under the obligation to give a response to the needs meant by being an excellence centre of this kind and to the challenges in the field of RD for the coming years, developing new treatments and improving access to the diagnosis of RD, in line with national and international policies.
The greatest step forward made in the diagnosis of RD over the last few years has been the incorporation of massive sequencing technology. This technology enables us to read millions of sequences of DNA at a hitherto unimaginable speed and at an increasingly low cost. This has enabled us to find the genes that cause a large number of RD. Its potential has enabled developing new applications and biological tests which are finding widespread application in the postnatal and prenatal diagnosis of genetic diseases. We should stress our Programme of Undiagnosed Rare Diseases, ENoD, whose aim is to contribute to a precise molecular diagnosis of clinical cases still unsolved after “all” the (suitable) protocols available in the Health System service portfolio have been applied.
CIBERER also continues to further therapeutic strategies and thus takes a direct part as promoter of orphan drugs. It is currently the sponsor of a total number of 6 medications classified as orphan drugs by the European Medicines Agency (EMA), 3 of which have also been designated as such by the American Agency (FDA). (3 are for gene therapy and 3 for repurposing drugs).
Lastly, CIBERER renewed the members of its Management Committee and its External Advisory Scientific Committee in 2016. We should stress that representatives of affected people have been included in the second of these bodies, which will unquestionably strengthen our structure and our commitment to patients. I would like to take this opportunity to thank all the members of the previous Management Committee for their great commitment to the centre and in particular thank Professor Francesc Palau, “our” Scientific Director for the last 10 years, for his commitment and work done for the CIBERER.
ER
presentation 3