Neurologia Pediàtrica

Brain Metabolism Workshop: from rare diseases to common biological pathways

Inscripcions tancades


Brain metabolism, which has been largely disregarded in the traditional approach to investigating and treating neurological diseases, is a major clue and probably the next imminent "revolution" in neurology and neuroscience.

Biochemistry (metabolism) and cell neurobiology need to be considered as a continuum of mechanisms and being included in the practical medical thinking of clinicians. Rare monogenic neurological disorders are normally approached depending on the main clinical symptom. Therefore, specialists in epilepsy, movement disorders, cognitive disturbances and other main neurological signs are faced to the differential diagnosis and treatment of patients.

Accordingly, the European Reference Networks involved in rare genetic neurological diseases are divided into rare epilepsies (Epi-Care), other rare neurological conditions such as motor disorders and leukodystrophies (RND-ERN), inherited metabolic disorders (Metab-ERN) and neuromuscular diseases that often involve the nervous system (EURO-NMD). However, there is a remarkable overlap regarding type of diseases in these networks since all of them include metabolic diseases and the “biochemical approach” in the diagnosis and study of many conditions. An integrative access of rare neurological diseases using biochemistry opens a new window of opportunities concerning pathophysiological knowledge and treatments.

Patient associations are extremely important actors in the connection between clinicians, neurologists, and researchers that study the fundamental bases of every disease accelerating the pathway towards new treatment. Their experience and new ideas related to the “metabolic connection” will be crucial during this meeting. Therefore, we will include clinicians, researchers and patients involved in these three important networks to start working together in this new paradigm and collaborative work.

Dirigit a

  • Health professionals dedicated to neurology (pediatric and adult) and/or inborn errors of metabolism and genetics.
  • Researchers in the field of neuroscience, biochemistry and molecular biology. 
  • Family Associations.


*** Download the programme to get the contents.

*** Practical info here.

Descarregar programa


  • This day will be hybrid, so you will have the option to attend in person or connect live through a video conferencing tool.
  • The webinar link will be provided 48 hours prior to the start of the course.
  • Simultaneous translation will be offered, if you need this service at the time of registration, please send an email to:

Certificates of attendance 

At the end of the training workshop a Certificate of Attendance will be sent to the participants who attended the entire workshop. 
No credits of Continuing Education in Medicine will be issued. 


The workshop is supported by EJP RD NSS. Therefore we are able to offer this conference to you only for a minimal fee.*

  • In-person: 25 €
  • Online: 15 €

Countries in which the registration of participants will be free of charge: Countries of Latin America (including Brazil), Africa, the Middle East and Asia (not including Japan, South Korea). In this case, please send an email with a document proving your LMIC country membership to:

Funded by:

This Networking event has received funding from European Union’s Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N° 825575”.

Logo Rare   Logo EU

Co-funded by:

Logo PTC   Logo Minoryx   Logo Nutricia   

In partnership with:

Logo ERN

Informació clau

Adreça Formación Hospital Sant Joan de Déu
Carrer de Santa Rosa, 39-57
08950 Esplugues de Llobregat
Barcelona [ver mapa]

Sala: Auditori Edifici Docent

Neurologia Pediàtrica
Idioma Anglès
Hores lectives 17 h