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Congenital Metabolic Disease: research

As well as treating patients, the professionals working in the Congenital Metabolic Disease (CMD) Unit of SJD Barcelona Children's Hospital develop different areas of research focused on improving diagnostic tools and therapeutic techniques for inborn errors of metabolism and other rare genetic-based diseases. Our research is carried out at the Sant Joan de Déu Research Institute (IRSJD).

This activity has allowed our unit to join CIBERER, the Centre for Biomedical Network Research on Rare Diseases, which counts genetic and metabolic diseases among the rare disease research it conducts. The main lines of study are as follows: 

  • PKU and other disorders of intermediary metabolism.
  • Mitochondrial energy metabolism and ataxias.
  • Applied research in neuromuscular diseases.
  • Synaptic and neural communication disorders in neurometabolic diseases (synaptic metabolism laboratory).
  • Vitamin-sensitive movement disorders.
  • Collaborative research in Lowe Syndrome.
  • Development of clinical and radiological scales for the evolution of congenital disorders of protein glycosylation.
  • Diagnosis of patients with IEM in the Atlas Mountains in Morocco thanks to the NGO Nousol.

The IEM unit also works in coordination with several European research networks, including:

  • MetabERN (European Reference Network for Hereditary Metabolic Diseases). 
  • E-IMD (European Registry of Intoxication Metabolic Diseases). 
  • E-HOD (European Registry of homocystinurias).
  • InNerMed (Inherited Neurometabolic Diseases).
  • I-NTD (International Working Group of Neurotransmitter Related Disorders).
  • INPDA (International Niemann-Pick Disease Alliance). 
  • Connecting The Growing Brain (Neurotransmitters and Synaptic Metabolism in Paediatric Neurology). 
  • RRD Foundation (Recordati Rare Diseases Foundation), involved in the scientific committee and the preparation of specific programmes