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Orphanet J Rare Dis. 2013 Feb 5;8:20.

The U705 has wide experience and knowledge in the research and diagnosis of
Highlights
rare diseases, with consolidated research lines in the fields of neuromuscular and
haematological diseases, Pharmacogenetics and Oncogenetics. The most important

activities of the group in 2013 are highlighted below.

The Unit has received national and international funding for research projects (from
FIS/ISCIII, the MICINN and MINCYT). As a result of this funding, the unit is deve-

loping gene panels in order to implement the new NGS technology into clinical prac-
tice. Additionally, the unit contributes to the Human Variome Project with the study

“Development of a national database of mutations in germinal lines”.

The results of these studies have yielded 15 scientific articles, 80% were in the first
decil or first quartile publications.

Regarding translational research, the Unit is conducting a clinical trial in Pharma-

cogenetics funded by the FIS/ISCIII and is participating in an international clinical
trial in nmDBMD funded by PTC Therapeutics. The Unit also participates in inter-

national organisations such as the DMD Registry (TREAT-NMD) and the Registry ó
of SMN patients, and collaborates with scientific societies and patient associations

(ASEM and SEN).

Regarding knowledge transfer and patents, the Unit has signed two contracts with
13
private entities (Gebro Pharma S.A. and Sistemas Genmicos, S.L.) in the field of 20
Pharmacogenetics.
T
OR
The Unit has a recognized expertise in the training of researchers and PhD students, P
RE
and has incorporated new clinical research fellows funded by the prestigious stu- L
dentships Ro Ortega.
A
NU
The Unit coordinates the first postgraduate course in Clinical Pharmacogenetics and N
A
Pharmacogenomics (IL3 -UB) at national level.
R /
E
The Unit has organized a national meeting for AME researchers in the Hospital Sant ER
Pau, in May 2013.
B
CI

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