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I am a Principal Investigator scientist leading a translational research group at the Hospital Clínico San Carlos (IdISSC), in Madrid (Spain). I am a Biologist and obtained my Ph.D. in Molecular Biology (2006, University Complutense Madrid, CIB-CSIC) and then moved to the UK to do postdoctoral work at the mouse genetics centre MRC Harwell Institute (Oxfordshire, UK). I have returned to Madrid after 12 years abroad to my current position as a Group leader in 2019.
My scientific career has been centred on the understanding of pathological mechanisms of neurodegenerative disorders, with the final aim of identify ways to tackle, cure or prevent them. My current research focus is to identify key metabolic pathways that contribute (risk) in the aetiology of the complex disorders Amyotrophic Lateral Sclerosis (ALS) and Fronto-temporal Dementia (FTD). We study the causal relation of metabolism and genetics in these aged-related neurodegenerative disorders, combining basic -translational research, using mouse models of diseases, with clinical research, in patients suffering from ALS and Dementia.
Neurociencia
Enfermedades neurológicas
Deciphering the causal role of metabolic alterations in neurological disorders
Unravelling the pathological mechanism of genes related to ALS and frontotemporal dementia (FTD), both at the central nervous system and systemic levels.
Multi-omics and multi-factorial to study the risk of suffering ALS and FTD: Working towards a personalized prevention.
Descifrando el papel causal de las alteraciones del metabolismo en las enfermedades neurodegenerativas.
Descifrando el mecanismo patológico de genes relacionados con la ELA y la demencia frontotemporal (DFT), tanto a nivel del sistema nervioso central como sistémicos.
Estudio de investigación clínica multi-ómico y multifactorial para determinar el riesgo de padecer enfermedades del espectro ELA-DFT: hacia una prevención personalizada.
ELA. Demencia frontotemporal, TDP-43, FUS, Metabolismo, medicina de precision, multi-omicas, genética de ratón.
