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.