Group Leader

Luis Alberto Pérez Jurado

The UPF Genetics Unit is a multidisciplinary research group associated with IMIM and comprises pysicians, biologists, a biostatistician, a psychologist, information scientists and technicians. The group also belongs to the Network Center for Biomedical Research in Rare Diseases (CIBERER). Our research focuses on genomic structural variation and several neurodevelopmental genetic disorders affecting behavior, language and personality, including mutational mechanisms, evolutionary studies, and the use of animal and cellular models of disease. We also coordinate a collaborative program aimed at providing support to the health care system in diagnosing unsolved rare diseases through the use of genomic and personalized medicine. We aim to translate our research findings directly into clinical practice, by improving clinical protocols and diagnostic tools, and developing novel therapies.




Gemma Aznar Laín (Researcher)

Andrés Medrano Muñoz (Researcher)

Montserrat Pujadas Lorente (Researcher)


more info

Main Publications with IMIM

• Argente J, Chowen JA, Pérez-Jurado L, Frystyk J, Oxvig C. One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology. EMBO Mol Med 2017; 9(10): 1338-1345. IF 9.249. D1.

• Demaerel W, Hestand MS, Vergaelen E, Swillen A, Pérez-Jurado L, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR, International 22q11.2 Brain and Behavior Consortium. Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. Am J Hum Genet 2017; 101(4): 616-622. IF 9.025. D1.

• Serra-Juhé C, Martos-Moreno GÁ, Bou de Pieri F, Flores R, González JR, Rodríguez-Santiago B, Argente J, Pérez-Jurado L. Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants. PLoS Genet 2017; 13(5): e1006657. IF 6.1. D1.

• Paneque M, Moldovan R, Cordier C, Serra-Juhé C, Feroce I, Pasalodos S, Haquet E, Lambert D, Bjørnevoll I, Skirton H. The perceived impact of the European registration system for genetic counsellors and nurses. Eur J Hum Genet 2017; 25(9): 1075-1077. IF 4.287. Q1.

• Paneque M, Serra-Juhé C, Pestoff R, Cordier C, Silva J, Moldovan R, Ingvoldstad C. Complementariness between medical geneticists and genetic counsellors: its added value in genetic services in Europe. Eur J Hum Genet 2017; 25(8): 918-923. IF 4.287. Q1.

• Sintas C, Carreño O, Fernàndez-Castillo N, Corominas R, Vila-Pueyo M, Toma C, Cuenca-León E, Barroeta I, Roig C, Volpini V, Macaya A, Cormand B. Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia. Sci Rep 2017; 7(1): 2514. IF 4.259. Q1.

• Codina-Solà M, Pérez-Jurado L, Cuscó I, Serra-Juhé C. Provision of Genetic Services for Autism and its Impact on Spanish Families. J Autism Dev Disord 2017; 47(10): 2947-2956. IF 3.321. Q1.

• Pérez-García D, Brun-Gasca C, Pérez-Jurado L, Mervis CB. Behavioral Profiles of Children With Williams Syndrome From Spain and the United States: Cross-Cultural Similarities and Differences. Am J Intellect Dev Disabil 2017; 122(2): 156-172. IF 1.667. Q1.

Ongoing Research Projects

• Implementació de la Medicina Personalitzada basada en la Genòmica en Malalties Minoritàries Neurològiques no Diagnosticades

- Departament de Salut de la Generalitat de Catalunya (SLT002/16/00174)

- From 2017 to 2019

- Principal investigator: Pérez Jurado, Luis Alberto

• Caracterización de inversiones submicroscópicas ancestrales del genoma humano y su contribución a enfermedad germinal y somática

- Fondo de Investigación Sanitaria. ISCIII (PI13/02481)

- From 2014 to 2017

- Principal investigator: Pérez Jurado, Luis Alberto



C/ Doctor Aiguader, 88

08003 Barcelona

(+34) 93 316 04 00