Luis Alberto Pérez Jurado

Group website

Research Outline

The main focuses of our research are the genetic and genomic disorders affecting human development and the mutational mechanism of the human genome. Our multidisciplinary group integrates clinical, molecular and bioinformatic research along with the use of cellular and animal models. We search for biomarkers for early diagnosis of germline and somatic disease, contribute to novel therapeutic strategies, and provide appropriate genetic counseling to families. Translation and transfer of the generated knowledge is achieved through clinical services at the associated hospitals and the Spin-off qGenomics, developing specific tools for clinical diagnosis, prognosis and personalize medicine.

 

Research Lines

  • Molecular bases of neurodevelopmental disorders and human malformations

Through the integration of clinical and genomic data, we attempt to unravel the etiologies of several heterogeneous disorders affecting human development.

  • Pathogenic mechanisms and novel therapies in Williams-Beuren and its reciprocal syndrome

Detailed characterization of patients, identification of genetic modifiers and disease modeling in mice and by cell reprograming are used with the goal to identify novel therapeutic options.

  • Structural human genome variation and disease susceptibility

A significant proportion of the hidden heritability for human disorders likely lies within complex genomic regions with high genome plasticity but poorly explored so far, including mosaic changes, genomic inversions and gene conversions.

  • Diagnosis of genetic diseases and personalized medicine

We coordinate the Program for Undiagnosed Rare Diseases in Catalonia and the CIBERER. This Program, as well the activities developed by qGenomics, aims to incorporate the genomic and personalized medicine into the Health System.

 

 

Team during 2017-18

  • Postdocs: Victoria Campuzano Uceda, Roser Corominas Castiñeira, Clara Serra Juhé, Maria Segura Puimedon, Sorina Daniela Tatu Boncota.
  • PhD students: Marta Codina Solà, Cristina Borralleras Fumaña, Armand Gutiérrez Arumí, Débora Pérez García, Judith Reina Castillón, Marcos López Sánchez, Maria Gabriela Palacios Verdú, Anna Montaner Domènech, Francesc Bou de Pieri, Paula Ortiz Romero.
  • Technicians: Raquel Flores Peirats.
  • Project manager: Andrés Medrano.
     

 

Selected publications 2017-18

  • Serra-Juhé C, Martos-Moreno GÁ, Bou de Pieri F, Flores R, González JR, Rodríguez-Santiago B, Argente J, Pérez-Jurado LA (2017) Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants. PLoS Genet 13(5): e1006657.
  • Argente J, Chowen JA, Pérez-Jurado LA, Frystyk J, Oxvig C (2017) One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology. EMBO Mol Med 9(10):1338-1345.
  • Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium. (2018) Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. Am J Hum Genet 103(3):457.
  • Iacono G, Mereu E, Guillaumet-Adkins A, Corominas R, Cuscó I, Rodríguez-Esteban G, Gut M, Pérez-Jurado LA, Gut I, Heyn H (2018) bigSCale: an analytical framework for big-scale single-cell data. Genome Res 28(6):878-890.
  • Ortiz-Romero P, Borralleras C, Bosch-Morató M, Guivernau B, Albericio G, Muñoz FJ, Pérez-Jurado LA, Campuzano V (2018) Epigallocatechin-3-gallate improves cardiac hypertrophy and short-term memory deficits in a Williams-Beuren syndrome mouse model. PLoS One 13(3):e0194476.