Genetics
Associated group
The UPF Genetics Unit is a multidisciplinary research group associated with IMIM and comprises physicians, 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.
Members
Gemma Aznar Laín (Researcher)
Andrés Medrano Muñoz (Researcher)
Montserrat Pujadas Lorente (Researcher)
Main Publications with IMIM
• Martos-Moreno GÁ, Travieso-Suárez L, Pozo-Román J, Muñoz-Calvo MT, Chowen JA, Frilander MJ, Pérez-Jurado L, Hawkins FG, Argente J. Response to growth hormone in patients with RNPC3 mutations. EMBO Mol Med 2018; 10(7): e9143. IF 10.293. D1.
• Iacono G, Mereu E, Guillaumet-Adkins A, Corominas R, Cuscó I, Rodríguez-Esteban G, Gut M, Pérez-Jurado L, Gut I, Heyn H. bigSCale: an analytical framework for big-scale single-cell data. Genome Res 2018; 28(6): 878-890. IF 10.101. D1.
• Argente J, Pérez-Jurado L. Genetic causes of proportionate short stature. Best Pract Res Cl En 2018; 32(4): 499-522. IF 4.417. Q1.
• Ortiz-Romero P, Borralleras C, Bosch-Morató M, Guivernau B, Albericio G, Muñoz FJ, Pérez-Jurado L, Campuzano V. Epigallocatechin-3-gallate improves cardiac hypertrophy and short-term memory deficits in a Williams-Beuren syndrome mouse model. PLoS ONE 2018; 13(3): e0194476. IF 2.766. 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)
- Period: from 2017 to 2019
- Principal investigator: Pérez Jurado, Luis Alberto
Theses
• López-Sánchez M. Contribution of unexplored genomic variants to neurodevelopmental disorders. Universitat Pompeu Fabra
- Director: González, JR, Pérez-Jurado, Luis
- Date of defense: 05/02/2018
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info@imim.es