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Movement Disorders: research

The Movement Disorder Unit at SJD Barcelona Children’s Hospital is involved in various publicly and privately funded research projects, as well as studies financed by other funds. We are currently leading the following research projects:

  • Biomarcadores y genes en la necrosis estriatal de la infancia (Biomarkers and genes in striatal necrosis in childhood). Multicentre study funded by the Carlos III Health Institute (ISCIII).
  • Neurodegeneración por acumulación de hierro cerebral: evaluación clínica y caracterización genética (Neurodegeneration with brain iron accumulation: clinical evaluation and genetic characterisation). Multicentre study funded by La Marató Foundation of TV3.
  • Estudio de defectos en el transporte y metabolismo de tiamina asociados a encefalopatías recurrentes en la infancia (Study of defects in the transport and metabolism of thiamine associated with recurrent encephalopathies in childhood). Funded by Agency for the Management of University and Research Grants (AGAUR) and the “Bombers amb causa” grant.
  • Caracterización clínica y genética de pacientes con distonía mioclónica en población española y estudio de biomarcadores (Clinical and genetic characterisation of patients with myoclonic dystonia in Spanish population and a biomarker study). Collaborative project between the Sant Joan de Déu Foundation and the Aludme Association.

As regards national research, we are part of the Centre for Biomedical Network Research on Rare Diseases (CIBERER) of the Carlos III Health Institute (ISCIII) and the Catalan Government Consolidated Research Group for Rare Neurometabolic Diseases. On an international level, we are part of the European Reference Network (ERN) for Rare Neurological Diseases.

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