Project partner InNerMeDInNerMeD Members: Sant Joan de DéuHospital Sant Joan de Déu (HSJD) is a tertiary pediatric hospital and a reference center for neuropediatric disorders in Spain. In the last 30 years, over 700 patients with rare metabolic and neurologic disorders have been diagnosed in the center. Over a 44% accounts for intermediate metabolism disorders, 26% lisosomal disorders, 23% energetic metabolism defects and 7% others. About 25 new patients are newly diagnosed every year.

The hospital is a reference center for neurometabolic disorders, regarding diagnosis and clinical management. A multidisciplinary team composed by paediatric neurologists, paediatric nutritionists, psychologists, biochemists and genetists work together in the diagnosis and follow-up of these patients.

Regarding research projects we are currently working in different national and international funded initiatives. The main subjects of our research deal with PKU, Mitochondrial disorders and in particular CoQ10 defects, Thiamine deficiencies, Neurotransmitter defects and mechanisms of synaptic dysfunction in neurometabolic diseases, and Lysosomal disorders (in particular MPS). We are involved as partners in diverse European Networks: E-IMD, E-HOD and InNerMed. Since 2008 our center belongs to the CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras; Ministerio de Salud Español, Instituto de Salud Carlos III).

Key staff involved in the project

She received her M.D. from the University of Barcelona Medical School and obtained a Pediatrics degree and a Ph.D. in medicine at the “Universitat Autonoma de Barcelona”. She did her predoctoral training in the department of Neurology, Genetics and Metabolism at Hôpital Necker-Enfants Malades (Université Réné Descartes, Paris) from 1998 to 2000, and did a post-doctoral research fellowship in the department of Neurology at Columbia University (New York, USA) from 2007 to 2008. Since 2001, she is a Staff Pediatric Neurologist in the Department of Neurology at the Hospital Sant Joan de Deu in Barcelona and will begin coordinating the Neurometabolic Unit in 2013. She founded the Synaptic Neuropediatric’s Laboratory of the Fundació Sant Joan de Déu (FSJD) in 2009. Her main research interest is in the pathophysiology of neurotransmission and synaptic communication in rare neurometabolic and neurogenetic disorders, but also in exploring common neuropediatric diseases from a “synapto-metabolic” perspective. She is the principal investigator of our WP, and works as the main coordinator and supervisor.

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 has studied lysosomal storage diseases and other metabolic diseases, in particular Niemann-Pick C disease, Mucopolysacharidosis, CLN, Rett syndrome and mitochondrial disorders. She has received several grants for investigation on inborn errors of metabolism and neurodevelopment disorders. She collaborates with “Centro de investigaciones Biomédica de enfermedades raras CIII, (CIBERER). Scientific assessor of several foundations and parents associations Published around 250 scientific articles and book chapters. She is interested in the neuropathological mechanisms of metabolic disorders and their specific genotype–phenotype associations specially on neurodevelopmental disorders, Rett syndrome, neurodegenerative disease, ataxias muchopolisacharidosis, Niemann Pick disease.

She received her M.D. from the “Universitat Autònoma de Barcelona” (1993 -2000) and obtained a Pediatrics degree at the “Hospital Universitario Nuestra Señora de Candelaria, Universidad de la Laguna, Tenerife” (2002-2006). She did her predoctoral training in the department of Anatomy and Pathology at the “Universidad de La Laguna, Tenerife” (2004-2006). She completed studies of Neuropediatry in the Sant Joan de Déu Hospital, University of Barcelona (Master, December 2007 – January 2008). Currently she is pre-doctoral student in: “Diagnosis and treatment of mitochondrial diseases in childhood”, Universitat de Barcelona. Since 2010, she is a Staff Pediatric Neurologist in the Department of Neurology at the Hospital Sant Joan de Déu in Barcelona. Her main research interest is in neurodegenerative metabolic diseases (mitochondrial diseases, lysosomal diseases, Coenzyme Q10 deficiency), Rett syndrome, and ataxias. She is medical adviser for many rare diseases patient’s organizations: Association of MPS – Spain, Foundation of Niemann Pick – Spain, Association of Catalan Rett Syndrome, and Foundation of Ataxias – Spain (ACAH and FEDAES). She has participated in conducting therapeutic trials with new drugs in patients with mucopolysaccharidosis, Friedreich’s ataxia, Niemann -Pick disease and coenzyme Q10 deficiency.

She received her M.D. from the University of Barcelona Medical School (2007) and obtained a Pediatrics degree at the Hospital Germans Trias i Pujol, “Universitat Autonoma de Barcelona” ( 2011). She completed a short fellowship at the Neuropediatrics Department in Tübingen Krankenhaus, Germany (2010-2011) and a Master in Neuroscience (Universidad Pablo de Olavide, Spain) in 2012. She was CIBERER researcher for 2012-2013 ( involved in the European project ” E-IMD”). She worked for 1,5 years at the Genetics and Neuroscience Departments of the FSJD in Barcelona, being Rett syndrome and the study with RNA her main research topic. She is currently working at the InNerMeD project, being the grant holder in this project. She daily collaborates in the Neurometabolic Unit from a medical perspective.

For further information please visit the following useful links:

Hospital Universitari Sant Joan de Déu: www.hsjdbcn.org

Fundació Sant Joan de Déu, Research Group on “Neuronal Development and Metabolic Disorders”: www.fsjd.org/en/research-groups_3230/1320

Fundació Sant Joan de Déu, Research Subgroup on “Neurometabolic disorders with expression on CNS”:  www.fsjd.org/es/grupos-de-investigaci%C3%B3n_3230/3433#subline-detail

Fundació Sant Joan de Déu, Synaptic Metabolism Laboratory: agarciacazorla.wordpress.com/about/

Connecting the Growing Brain: www.connectingthegrowingbrain.com/

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