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leaD reSearcHer
Pérez Jurado, Luis
Universidad Pompeu Fabra
Facultad de Ciencias Experimentales y de la Salud Dr. Aiguader, 88
08003 Barcelona
(+34) 93 3160856 / 93 3160821 [email protected]
group website
GROUP MEMBERS
Staff members: Cusco Martí, Ivon | Serra Juhé, Clara
Contratados a cargo de proyecto: Tatu Boncota, Sorina Daniela
Associated members: Borralleras Fumaña, Cristina | Campuzano Uceda, Victoria | Corominas Castiñeira, Roser | Del Campo Casanelles, Miguel | Flores Peirats, Raquel | Palacios Verdú, María Gabriela | Pérez García, Débora | Reina Castillón, Judith | Rodríguez Santiago, Benjamin
Main lines of research
• Williams-Beuren syndrome. Molecular basis and pathogenic mechanisms.
• Williams-Beuren syndrome. Mouse model generation and analysis.
• Study of the genetic basis of autism spectrum disorders (ASD) and language specific impairment. Study
of the microduplication 7q11.23 syndrome.
• Clinical and therapeutic research into medical genetics: Williams-Beuren syndrome, novel genomic
syndromes, autism and intelectual disability.
• Human genome plasticity and disease susceptibility.
• Somatic mosaicism and chromosomal inversions. Mutational mechanisms and relationship with
germline and somatic disease.
• Development and validation of high-throughput technology for diagnostic applications in medical
genetics.
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PROGRAMMES
Pediatric and Developmental Medicine
