Page 81 - MemoriaCIBER2019-ENG

CIBER Annual report 2019 81
Presentation by the Scientific Director
Pablo Lapunzina
Welcome to this new edition of the Scientific Annual Report, where we have the opportunity to present the results of the scientific and translational activity carried out by the research groups in the area of Rare Diseases (RD), whom I thank for their excellent work and dedication.
Once again, I want to highlight the essential role of patient associations as active partners who work on the front line to give support and make the voices of those affected heard, both through our Patient Advisory Board, as well as through our External Scientific Advisory Committee.
At CIBERER we actively work to achieve the IRDiRC objectives, specifically in achieving 1,000 treatments for RDs. Proof of this are the 10 orphan drug designations of which we act as a sponsor.
As regards progress in the diagnosis of RDs, I highlight the Programme for Undiagnosed Rare Diseases (ENoD). This is a transversal programme with a multidisciplinary and collaborative management model that currently collects clinical data from more than 400 patients with a diagnostic rate of 29%.
CIBERER participates in several strategic European programmes and projects in the field of RD: the European Joint Programme on Rare Diseases, on the one hand, which is the European program for the improvement of research, data use and translation in RD. Special mention should also be made of the work carried out by the Orphanet España team, coordinated by CIBERER and an essential tool in the field of RD at the international level.
Lastly, I would like to stress the urgency of implementing a National Plan for Genomic Medicine, and the recognition of the specialty of Clinical Genetics as both are essential steps for the results of our research to result in an improvement in the healthcare, diagnosis and search for therapies for those affected.