Page 77 - MemoriaCIBER-2018ENG

Scientific Director’s Presentation
Pablo Lapunzina Badia
Dear friends,
This year we are again relying on our patients’ involvement through the External Advisory Scientific Committee and the Patients’ Advisory Board (CAP). This cooperation is unquestionably a great step forward which will enable us to improve our approach to research into rare diseases (RD), taking into account the needs of people affected and their families.
In 2018, CIBERER groups accomplished a large number of new results contributing to progress in the diagnosis of RD, the discovery of new genes, and treatment of RD with the development of orphan drugs and clinical trials in advanced therapies. Some aspects that are worthy of special mention are the Programme for Undiagnosed Rare Diseases (ENoD), and the 8 designations
of orphan drugs for which the CIBERER acts as
a sponsor (2 obtained this year). I would like to take this opportunity to stress the urgent need
for getting the National Genomic Medicine Plan under way. This will mean that the results of our research can be directly passed on, implying an improvement in care, diagnosis and the search for therapies for rare diseases.
Apart from this the CIBERER has great international standing due to its participation in several European programmes and projects. The most important of these is undoubtedly the European Joint Programme on Rare Diseases (EJP-RD), the new European programme for improvement of research, use of data and
translation in rare disease. Special mention should also be given to the work done by the Orphanet España team, coordinated by CIBERER, an essential tool in the field of RD. We have furthermore worked on a complementary basis along with Orphanet to improve the access to information on RD continuing with the update
of MAPER (RD research projects nationwide) and the incorporation of a map of research resources.
2018 is also a year of scientific restructuring. This year the new structure was approved, still being made up of 7 Research Programmes
(PdI): the PdI on Genomic Medicine becomes Translational Genomic Medicine; the Mitochondrial Medicine PdI becomes part of the PdI on Inherited Metabolic and Mitochondrial Medicine; and the PdI of Neurological Diseases is created. All these changes have gone along with the relocation of some of the CIBERER’S research groups in them, consistent with the evolution in their lines of research. These changes have led to Pia Gallano and Cristina Fillat joining the Management Committee, respectively replacing Montserrat Milà and Francesc Palau.
I would lastly like to thank some of the precursors of this network centre for their work and dedication, as pioneers in their fields and great researchers, who have for personal or professional reasons ceased to lead some of the CIBERER units in 2018.
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CIBERER | ANNUAL REPORT 2018