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• s-J c, c-c n, a e, G M, e MJ, i n, t-
ancheziMenouadradoorralesllerarcíascaMezlleraruJilloMost relevant
tiebas MJ, ayuso c, Millán JM, del río M. Recessive Dystrophic Epidermolysis Bullosa:
scientific The origin of the c.6527insC mutation in the Spanish population British J Dermatol.

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• aParisi MJ, García-García G, aller e, sequedo Md, Martínez-Fernández de la cáMara c,

rodriGo r, arMenGot M, cortiJo J, Milara J, díaz-lloPis M, JaiJo t, Millán JM. Study of
USH1 splicing variants through minigenes and transcript analysis from nasal epithe-

lial cells. Plos One. 8: e57506 (2013).

• ayuso c, Millán JM*, Mancheño M, dal-ré r. Informed consent for whole genome
sequencing studies in the clinical setting. Proposed recommendations on essential

content and process. Eur J Hum Genet 21: 1054-1059 (2013).

• Martínez-Fernández de la cáMara c, sequedo Md, GóMez-Pinedo u, JaiJo t, aller e, Gar-
-t P, G-V JM, M JM, r r. Phosphodiesterase inhibition
cíaárraGaarcíaerduGoillánodriGo
induces retinal degeneration, oxidative stress and inflammation in cone-enriched
í
cultures of porcine retina. Exp Eye Res. 111: 122-133 (2013).

• Martnez Fernández de la caMara c, saloM d, sequedo Md, herVás d, Marín-laMbies c, aller
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RESEARCH:
Highlights
We have developed a platform for molecular diagnostic of the Usher syndrome,

by means of massive parallele sequencing. This platform includes the 11 genes
known, to date, to be involved in this disease, and two potential candidate genes.

In those patients, with no mutations within the known USH genes, we have se-

quenced the whole exome to find new genes related to the disease.

We have set up a technique to purify RNA from nasal epithelium, which is known
to contain ciliated cells, where USH genes are expressed, to investigate splicing

defects in these genes.
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We also have developed a protocol to measure the oxidative stress status in
aqueous humor and peripheral blood from patients of retinal dystrophies.

We have incorporated to our research group several animal models, such as the

rd10 mouse, as a model of retinitis pigmentosa, and the worm C. elegans to study

the physiopathology of the Huntington’s disease. Moreover, we have developed a
fish model of the Usher syndrome, Medaka (Oryzias latipes), by means of knoc-

king-down the Ush2a gene using morpholinos.

SOCIAL WORK:

we collaborate with the Spanish Federation of Rare Diseases (FEDER) in the EN-
SERIo2 study: “For a health care model for people with rare diseases in the CCAA 13
20
(Spanish autonomic regions)”. We have organized the “second course of Spanish T
OR
sign language for genetic counseling”, and also a meeting on “Research in rare P
diseases. A social need”.
RE
L
TRAINING:
A
NU
We have organized the course “Diploma in Molecular Ophthalmology”, which is an N
A
official subject of the Universitat de Valncia, and the section “Clinical research”, R /
of the Program of continuous training in biomedical research for young physicians, E
ER
of the Hospital La Fe de Valencia.
B
CI

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