Page 4 - MemoriaER-Eng

iORGANIZATION

n 2013, the Centre for Biomedical Network Research on Rare Diseases (CIBE-
RER) continued down the path it has been on for the last few years, securing

its position as a national leader in research on Rare Diseases (RD), undoubtedly

due to the collaboration of the different research Centers and groups making up
CIBERER and of all the investigators working in and collaborating with it. CIBERER

is now responsible for meeting the needs involved with being a Center of excellence
of such characteristics and the upcoming challenges in the field of RD in the coming

years.

In 2013, CIBERER instituted the scientific guidelines necessary for aligning itself both

on a national level with the 2013-2016 State Plan for Scientific, Technical and In-
novation Research, and on an European level with the new European Commission

Horizon 2020 R&D&I Programme, in which the treatment, diagnosis and awareness

of rare diseases continues to be a priority. These problems are approached interna-
Letter from tionally through the objectives of the “International Rare Disease Research Consor-

the Scientific tium” (IRDiRC). Its two objectives are essentially to develop 200 new therapies for
rare diseases in 2020 and to be able to diagnose most of them. In this national and
Director
international context, and as a response to these proposed needs, CIBERER conducts

its activities fully complying with national and international policies in the field of Rare
Diseases.

2013 was the best year for CIBERER as regards scientific production. The number of

citable papers this year increased by 16% with respect to 2012, going from 9.61 to

10.45 per group. According to data available in April 2014, 673 CIBERER papers were
published. If this figure, which only includes citable documents, is combined with

the meeting abstracts included in WoS, that figure amounts to 786 publications, 100
more than the previous year.

In relation to the CIBERER Programme “Genes of Undiagnosed Rare Diseases”, an

enormous project for the application of exome sequencing to a number of RD, the

identification of mutations in 26 genes not previously associated with the pathology
under study and the identification of new mutations in 22 genes that are already

known and were associated with that disease stand out as an overall result, pending

the validation result of many candidate genes. The first results published in interna-
tional journals were obtained from this work, particularly during 2013. Since the pro-

gramme started, CIBERER groups have published 10 original papers in international
journals and 6 other papers are currently being reviewed by the editors for acceptan-

ce. Furthermore, there are 3 other studies that have ended and the 3 manuscripts are

currently being prepared. This programme was the basis for implementing in 2014
the CIBERER Exome Server and the SPANEX project which will provide an exome

database and genetic information about the Spanish population.

CIBERER furthermore enhanced several translational initiatives between in 2013,

particularly the association of clinical groups. This action will allow CIBERER groups 13
to collaborate with groups that have vast clinical experience in RD, accelerating the 20
T
definitive translation of the research that is being conducted to the National Health R
System. In 2013, four clinical groups from the Pediatric and Developmental Medici- PO
E
ne Programme with considerable clinical research experience and that complement L R
A
the partial lack of clinical geneticists and dysmorphologists in the CIBERER joined. NU
Following a similar process, at the end of 2013 the process for clinical groups to join N
A
from the Inherited metabolic Medicine Programme began at the end of 2013 and the /
ER
appropriate agreements will be signed in 2014.
ER
B
CIBERER, as a Spanish and European reference Center in scientific research on the CI
biological and pathological basis of RD, has also stood out in 2013 for its participation

4
in international initiatives such as ORPHANET, the EU Committee of Experts on RD
(EUCERD) and the EUCERD Joint Action, the European project EUROPLAN, the Inter-