Page 42 - MemoriaER-Eng

HORIZONTAL PROGRAMMES

• The 3rd National Encounter of acromegaly patients brought together over
80 patients, investigators and healthcare practitioners, and was held on December

14 and 15 in Seville. Practical topics of interest for patients, such as neurocognitive
aspects and prevention of the more prevalent cancers in acromegaly patients, familial

acromegaly, when the genetic study or research and innovation in relation to new

treatments is necessary, were discussed at this event, with the participation of Dr.
Eugenia Resmini (U747 CIBERER).

Dissemination of CIBERER translational activity

Given that the Spanish Government declared 2013 to be the “Spanish Year for Rare

Diseases”, all the events in which the CIBERER participated were comprised in that
same year so they included the logotype created for that purpose.

The quintessential act for the dissemination of the CIBERER translational activity is the
é
Conference entitled “Investigar es Avanzar” (To conduct research is to move
forward) held within the framework of the events for the World Rare Disease Day.
é
CIBERER organized the fifth Conference “Investigar es Avanzar” on February 27 in

Madrid. Investigators and patients discussed their lines of collaboration in neuromus-
cular pathologies and Lowe syndrome. Furthermore, CIBERER investigators discussed

the usefulness of genetic counseling for patients suffering rare diseases and the results

of 36 years of the first Spanish registry of a large group of rare diseases: congenital
anomalies. This event has also provided the opportunity for CIBERER investigators and

the corresponding FEDER counterparts to talk about their collaboration in research.

The 8th Translational Research and Personalized Medicine Meeting was also á
held on February 7, 2013 at the Fundación Jiménez Díaz de Madrid. The conference

was organized by U704, led by Dr. Ayuso, with the collaboration of the Roche Institute.

The fourth installment of the “CIBERER DNA Day”, held at La Paz University Hospital

on April 29, focused on the use of NGS in healthcare. This conference was led by Dr.
Pablo Lapunzina and Dr. Julin Nevado, from CIBERER U753.

The Ministry of Health, Social Services and Equality organized a scientific conference

on translational research, research challenges and actions of the Carlos III Health Ins-
titute (ISCIII) in RD on October 24 entitled «Conocer la rareza, mejorar nuestras

vidas» (Know the anomaly, improve our lives) with the collaboration of ISCIII, Dr. Pa-

blo Lapunzina (U753), Dr. Francesc Palau (U732), Dr. Francesc Cardellach (U722), Dr.
Eduardo Tizzano (U705), Dr. Roberto Zarrabeitia (U707), Dr. Carmen Ayuso (U704),

Dr. Beln Prez (U746) and Dr. Manuel Posada (U758), all from CIBERER, participated

in this encounter as moderators and speakers.

Finally, CIBERER together with the other 8 Networking Biomedical Research Centres
(NBRCs) disclosed eight practical cases of scientific advancements achieved with the

networking research of excellence at a round table held in Barcelona in the framework 13
of Science Week. Dr. Elisenda Eixarch, coordinator of line of research of the Fetal Me- 20
T
dicine Research Center and assigned to CIBERER U719, led by Dr. Eduard Gratacós, R
PO
presented her translational research in fetal medicine at a round table organized by E
the NBRC at the CEK in Barcelona on November 18. At this event, each of the NBRCs L R
A
disclosed a specific case of translational research serving patients.
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