Department of Pediatric Neurology, Hospital de Sant Joan de Déu, Barcellona
SPAIN
Specialist in Pediatric neurology, Neurological Hospital Sant Joan de Déu, Barcelona.
Prof. Mercé Pineda is a senior consultant of child neurology at the Medical Centre of Sant Joan de Déu Hospital, and Clinica Teknon of Barcelona, Spain, and an investigator on neurological and metabolic diseases. She received her medical education at the University of Barcelona and has worked as a practicing physician ever since. Her PhD studied the development of the cortex of the cerebellum in animals and human diseases. She is interested in the neuropathological mechanisms of lysosomal storage diseases, metabolic disorders and their specific genotype–phenotype associations specially on neurodevelopment disorders, Mucopolysacharidosis., neurodegenerative disease, ataxias, mitochondrial disorders, and in particular in Rett Syndrome. She has published around 280 scientific articles and book chapters. She has received several grants for investigation and clinical assays, on inborn errors of metabolism and neurodevelopment disorders. She collaborates with “Centro de investigaciones Biomédica de enfermedades raras C-III, (CIBERER). Scientific assessor of several foundations and parents associations.
PUBLICATIONS:
Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.
Epilepsy in Rett syndrome—Lessons from the Rett networked database.
Rett networked database: An integrated clinical and genetic network of rett syndrome databases.