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• s P, s a, u r, d a, a r, M l, a J, a
Most relevant arriónanGorrinrreiztielGadortuchartorellrMstronGnton
J, torner F, Vilaseca Ma, neVado J, laPunzina P, asteGGiano cG, balcells s, GrinberG d.
scientific Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochon-

articles
dromas. Sci Rep. 3:1346, 2013.

• yoskoVitz G, García-Giralt n, rodríGuez-sanz M, urreizti r, Guerri r, ariño-ballester s,

Prieto-alhaMbra d, MelliboVsky l, GrinberG d, noGues X, balcells s, diez-Perez a. Analy-
ses of RANK and RANKL in the post-GWAS context: functional evidence of vitamin

D stimulation through a RANKL distal region. J Bone Miner Res.28: 2550-60, 2013.

• brands MM, hooGeVeen-WesterVeld M, kroos Ma, nobel W, ruiJter GJ, ozkan l, PluG i,
G d, V l, h dJ, P at, r aJ. Mucopolysaccharidosis type VI
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phenotypes-genotypes and antibody response to galsulfase. Orphanet J Rare Dis.
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• c-d G P G c, l sh, r s, n bM,
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Faraone sV, ..., corMand b, ..., et al. Genetic relationship between five psychiatric disor-
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ders estimated from genome-wide SNPs. Nat Genet. 2013 Sep;45(9):984-94, 2013.
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• carreo o, coroMinas r, serra sa, sintas c, Fernández-castillo n, Vila-Pueyo M, toMa c,
Gen GG, Pons r, llaneza M, sobrido MJ, GrinberG d, ValVerde Má, Fernández-Fernández JM,

Macaya a, corMand b. Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine:
clinical, genetic, and functional studies. Mol Genet Genomic Med. 1:206-22, 2013.

Our group investigates on the molecular genetic bases of monogenic as well as
Highlights
complex diseases. We also develop models for them and assay new therapeutic

approaches. Some of the achievements of this year are:

Lysosomal diseases: A neuronal model for Sanfilippo C was obtained from iPS
cells, which recapitulates the disease phenotype. We are also working on a mouse

bearing a pseudoexon-generating mutation responsible for Niemann-Pick C disea-

se, in which we will try an antisense oligonucleotide-based therapy.
Opitz C syndrome: as part of an exome project to identify novel genes for the

disease, a new ASXL1 mutation was identified in one Bohring-Opitz patient.

Bone diseases: the mutational spectrum of a large group of Spanish and Latina-

merican multiple osteochondromatosis patients was defined. Regarding the High
Bone Mass phenotype, results of a genetic study demonstrated that this phenoty-

pe may have a monogenic or a multifactorial etiology in different patients. We are

also undertaking the resequencing of loci associated with osteoprosis, to identify
rare variants that may be true cause of the association.

Neuropsychiatric diseases: Rare autism-susceptibility variants have been disco-

vered through the massive sequencing of exomes from multiplex autism families.

On the field of therapeutic applications, we have assayed various molecules po-
tentially able to correct nonsense mutations, and products with chaperone ac- 13
20
tivity, both for Gaucher disease and for GM1 gangliosidosis. This last project is T
OR
undertaken through a collaboration with the Minoryx Therapeutics entreprise.
P
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Funding was obtained at national level (SAF2011-25431, SAF2012-33484) as well L
as international (PIB2010AR-00473; FP7-HEALTH, EU, 602805-2).
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