Page 31 - MemoriaER-Eng

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Research Project Programme:

Intramural Actions (ACCI) and External Projects

Cooperative and To encourage the development of cooperative research projects on a Rare Disease
(RD) or group of related RD, a call for proposals for Cooperative and Complemen-
Complementary
tary Intramural Actions was launched in 2012. Ten top-quality proposals were ap-
Intramural
proved. The following table shows data about all the projects that were co-funded
Actions (ACCI)
with CIBERER funds and active during 2013.

COORD. PARTICIPATING
TITLE
PI
UNIT UNITS

Dr. Sanz U742
U709, U721,
Physiopathological Basis of Lafora Disease
U733, U738, U744

Identification of new physiopathological
Dr. del Río
U714 U726, U733
mechanisms in Kindler Syndrome

Preclinical study of gene therapy for MNGIE
by means of ex vivo transduction of the TYMP Dr. Martí
U701 U714, U722
gene using a lentiviral vector in a mouse
model with humanized skin.
í
Study of the putative role in breast cancer í
susceptibility of a new Fanconi Anemia gene. Dr. Bentez U706
U749, U745 é
A massive genetics and functional analysis.
(sin presupuesto)

Use of induced pluripotent stem (iPS) cells
for the study and treatment of mitochondrial Dr. Garesse
U717 U729, U746
diseases.

New genes and mechanisms in Retinal
dystrophies. Application of whole exome

sequencing and systems biology, functional Dr. Ayuso
U704 U702, U715, U755
studies in an animal model and clinical
characterization.
13
Identification of genetic variants modifying 20
the phenotype of Leber’s optic atrophy and Dr. Martn T
mitochondrial non-syndromic sensorineural U723 U701, U727
OR
hearing loss with homoplasmic mutations of Casanueva
P
mitochondrial DNA.
RE
L
A
Genetic diagnosis and possible treatments of Dr. Montoliu
U756 U711
NU
albinism.
N
A
Identifying and characterizing new genes R /
responsible for osteogenesis imperfecta.
Dr. Ruiz Prez
U760 U753
E
ER
B
Identification of patients with mutations CI
in genes involved in the biosynthesis Dr. Ribes
U737 U703, U746
and transport of mitochondrial energy
metabolism co-factors.
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