Page 163 - MemoriaER-Eng

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• berta alMoGuera, rosa riVeiro-alVarez, JorGe lóPez-castroMan, Pedro dorado, concePción
Vaquero-lorenzo, José Fernández-Piqueras, adrián llerena, Francisco abad-santos, en-

rique baca-García, raFael dal-ré, carMen ayuso sPanish consortiuM oF PharMacoGenetics
r s. CYP2D6 poor metabolizer status might be associated with
esearchin chizoPhrenia
better response to risperidone treatment. Pharmacogenetic Genomics (2013) 23
(11): 627-30. PMID: 24026091.

• a o, M b, V F, a b, M h, t-
nasorioassiMooGlioloictoriaernándezliciaarrosoiGuelde la oyarini
dad caldés, adriana lasa, teresa raMón y caJa, Marta santaMariña, ana VeGa, Francisco qui-
, c l, o d, d F, r G-s, M
lesonXiázarorlandíezanielernándezoGelioonzálezarMientoercedes
durán, José Fernández Piqueras, María Marín, roser PuJol, Jordi surrallés, JaVier benítez.

Evaluation of rare variants in the new Fanconi Anemia gene ERCC4 (FANCQ) as fami-
lial breast/ovarian cancer susceptibility alleles. Human Mut (2013) 34: 1615-1618.

Highlights
MOST REMARKABLE RESULTS:
•
We demonstrated that the activation of the Hedgehog signalling pathway is crucial
to T-cell lymphoblastic lymphoma (T-LBL) development, and that this occur due to ó

over-expression of SMO by down-regulation of several microRNAs. So, adjuvant
treatment with cyclopamine would be a good choice.

• The identification of gene variants associated with response to risperidone treat-

ment (in collaboration with Dra. C. Ayuso, CIBERER).

• And the evaluation of rare variants in the Fanconi Anemia gene ERCC4 as familial
breast/ovarian cancer susceptibility alleles (in collaboration with the team of Jordi í

Surralles y Javier Bentez at CIBERER).

PROJECTS AWARDED IN 2013:

2.1-Actin COST (EC-BM0901) (2013).

2.2- S2010/BMD-2470 (OncoCycle-CM) (renewed for the 2013-2015 period year).

2.3-ACCI-CIBERER-12-03, ISCIII. (2013-2014)
2.4- IIS-FJD (specific action for one year 2013-14)

TRANSLATING ACTIVITIES

• Integration in the Institute for Health Research, FJD” (IIS-FJD).

• Production of Genetic and Epigenetic reports about T-LBL patients for the “Haema-

tological Service of the HU FJD”, and discussion about clinical cases collaboratively
studied.

• Staff member of the “Committee of Experts on Human Genetics on the Madrid Au-

tonomous Community, and participation in a session.

• President (Chairman) of the Scientific Committee of FARPE-FUNDALUCE, and par-
ticipation in a meeting.

OTHER ACTIVITIES
13
• Seven presentations in national and international conferences.
20
T
• Teaching classes in multiple masters: Masters in Molecular Oncology (CNIO), Genet- OR
P
ics and Cellular Biology (UAM), en Molecular Biomedicine (subjects “Immune and RE
inflammatory diseases“ and “Molecular Oncology”) and “University Expert in Clinical L
A
Genetics” course (UA).
NU
N
• Supervision of three “ Final Degree Projects”. A
R /
• Coordinator and speaker of the “Training Course for Professors” at CBMSO . E
• ER
Teaching of “The Science of the future” (University programme for mature students). B
• Speacker in long working hours on “Health and Fight against doping in Sport” (INEF). CI

• Coordinator for Biomedicine in the Spanish Evaluation Agency (ANEP, MINECO)
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