Expert in
Molecular genetics. Rett Syndrome. Inborn errors of metabolism
Languages
Spanish, Catalan, English, French and Danish
I have trained exclusively in the fields of neurogenetics and hereditary neurological diseases. I began my work on fragile X Syndrome in a study conducted last year at the Laboratory of the John F. Kennedy Institute in Denmark, under the supervision of Dr. Grønskov. This study led to my completion of the Master's degree in Experimental Human Genetics. I completed my training with a PhD on Rett syndrome at SJD Barcelona Children's Hospital, under the supervision of Dr Monrós. I have also worked to reshape the ICS Institute of Neuropathology DNA Bank for Neurological Tissue (2003-2007) at Bellvitge Hospital, under the supervision of Dr. Ferrer and Dr. Volpini. Since 2008 I have been an attending physician in the Molecular Genetics Department of SJD Barcelona Children's Hospital. I am part of CIBERER (Biomedical Research Networking Centre for Rare Diseases) group U-703 and I am in charge of research into Rett Syndrome and the molecular diagnosis of neurogenetic diseases at this Hospital.
Training
- PhD in Genetics, Faculty of Biology. University of Barcelona, 2003.
- Experimental Master's degree in Molecular Genetics. University of Copenhagen, 1999.
- Bachelor's degree in Biology. University of Barcelona, 1997.
International experience
- Postdoctoral study at the Genetics Department of the Faculty of Medicine. Montevideo (Uruguay), 2007-2008.
- Master's degree from John F. Kennedy Institute. Glostrup (Denmark), 1998-1999.
Scientific activity
- Research group on Neurogenetics and Molecular Medicine, 2015 - present.
- Research group on Neurometabolic diseases expressed in the central nervous system, 2008 - present.
- Research group on Neuroscience and Paediatric Metabolism, 2002-2017.
- Research group on Rett Syndrome, 1999 - present.
How to request a treatment in SJD Barcelona Children's Hospital
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