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Most relevant scientific articles
• arGente J, Flores r, Gutiérrez-arumí a, Verma b, martos-moreno Gá, cuscó i, oGHabian a, cHoWen Ja, FrilanDer mJ, pérez-JuraDo la . Defective minor spliceosome mRNA processing results in isolated familial growth hor- mone deficiency . EMBO Mol Med 6:299-306 (2014) .
• González Jr, a cáceres a, esKo t, cuscó i, (7 more authors), pérez-JuraDo la. A common inversion polymorphism at 16p11 .2 underlies the joint susceptibilityto asthma and obesity . Am J Hum Genet 94(3):361-72 (2014) .
• seGura-puimeDon m, saHún i, Velot e, Dubus p, borralleras c, roDriGues aJ, Valero mc, ValVerDe o, sousa n, He- rault y, Dierssen m, pérez-JuraDo la, campuzano V . Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder . Hum Mol Genet . 23:6481-6494 (2014) .
• binelli c, subira, batalla a, muñiz a, suGranyes G, crippa Ja, Farre m, pérez-JuraDo la, martín-santos r . Com- mon and distinct neural correlates of facial emotion processing in Social Anxiety Disorder and Williams Syndrome: a systematic review and voxel-based meta-analysis of functional resonance imaging studies . Neuropsychologia, 64C:205-217 (2014) .
• pérez-García D, Flores r, brun-Gasca c, pérez-JuraDo la . Lateral preference in Williams-Beuren syndrome is associated with cognition and language . Eur Child Adolesc Psychiatry . 2014 Nov 28 . [Epub ahead of print]
Highlights
Institution: Universidad Pompeu Fabra Contact: Phone: (+34) 93 316 08 56 / 93 316 08 21 E .mail: luis .perez@upf .edu · Website: http://www .upf .edu/recerca/es/grups/ur-genetica .html
Our group has contributed over the years to unravel the pathophysiologic mechanisms of Williams-Beuren syndrome (WBS) . Recent clinical research led to a better description of novel metabolic and neurobehavioral features of the disease (Palacios JMG 2015, Pérez-García ECAP 2014), and abnormal brain activation related to anxiety disorder (Binelli NeuroPsy 2014) . We have also generated the best mouse model for WBS showing neurobehavioral and craniofacial anomalies (Segura-Puimedon HMG 2014) . We have obtained funding for searching therapeutic targets for the cardiovascular and cognitive features (Innopharma) and for the simultaneous study of WBS and the reciprocal microduplication syndrome (Todos Somos Raros) . We have consolidated a referral clinical unit for the multidisciplinary management of these disorders in the Hospital del Mar, Barcelona .
Our work on structural variants of the human genome has contributed to the identification of clonal mosaicism for chromosomal rearrangements as a strong and aging-related susceptibility factor (and marker) for hematological and solid cancer (Machiela AJHG 2015) . We have also found that submicroscopic inversions can behave as contiguous gene susceptibility syndromes explaining joint genetic susceptibility to some disorders and common traits, such as the novel 16p11 .2 inversion related to asthma and obesity (Gonzalez AJHG 2014) .
In terms of clinically driven research we have identified and characterized a novel syndrome associated with pituitary hypoplasia and growth hormone deficiency caused by mutations in a protein of the minor spliceosome that regulates the processing of hypophyseal genes (Argente EMM 2014) and participated in the clinical-molecular definition of several other disorders .
In addition to the diverse scientific contributions as publications, our research has obtained relevant translational results, contributing to the diagnosis of patients and their genetic counseling, the development of novel tools useful for the clinical labs, the consolidation of the spin-off company qGenomics, and the evaluation of potential therapeutic agents for a rare disease, WBS .
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