Genetics
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Neurosciences Programme
Group Leader
Luis Alberto Pérez Jurado
The UPF Genetics Unit is a research group associated with IMIM. 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.
ASSOCIATED group
Main Publications with IMIM
• Codina-Solà M, Costa M, Pérez-García D, Flores R, Palacios M, Cusco I, Pérez-Jurado L. Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome. J Med Genet 2019; 56(12): 801-808. IF 5.899. Q1.
• Ruiz-Arenas C, Cáceres A, López-Sánchez M, Tolosana I, Pérez-Jurado L, González JR. scoreInvHap: Inversion genotyping for genome-wide association studies. PLoS Genet 2019; 15(7): e1008203. IF 5.224. Q1.
• MacLennan AH, Lewis S, Moreno-De-Luca A, Fahey M, Leventer RJ, McIntyre S, Ben-Pazi H, Corbett M, Wang X, Baynam G, Fehlings D, Kurian MA, Zhu C, Himmelmann K, Smithers-Sheedy H, Wilson Y, Ocaña CS, van Eyk CL, Badawi N, Wintle RF, Jacobsson B, Amor DJ, Mallard C, Pérez-Jurado L, Hallman M, Rosenbaum PJ, Kruer MC, Gecz J. Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy. J Child Neurol 2019; 34(8): 472-476. IF 2.092. Q2.
Ongoing Research Projects with IMIM
• Implementació de la medicina personalitzada basada en la genòmica en malalties minoritàries neurològiques no diagnosticades
- Financing institution: Departament de Salut, Generalitat de Catalunya (SLT002/16/00174)
- Period: from 2017 to 2019
- Principal investigator: Pérez Jurado, Luis Alberto
Members
Gemma Aznar Laín (Researcher)
Andrés Medrano Muñoz (Researcher)
Montserrat Pujadas Lorente (Researcher)
2019
C/ Doctor Aiguader, 88
08003 Barcelona
(+34) 93 316 04 00
info@imim.es