From 6 to 7 July 2023, the MetabERN centre Sant Joan de Déu Hospital in Barcelona will host the Workshop: “Brain Metabolism Workshop: from rare diseases to common biological pathways”.
This will be an excellent occasion for patients, clinicians, and researchers for sharing knowledge and new ideas on brain metabolism as a transversal approach for the study and treatment of rare neurological disorders.
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. Metabolism and cell neurobiology need to be considered as a continuum of mechanisms and to be 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 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 to 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 toward new treatment. Their experience and new ideas related to the “metabolic connection” will be crucial during this meeting.
Therefore, clinicians, researchers, and patients involved in these three important ERN networks will have the opportunity to start working together in this new paradigm and collaborative work.
Targeted at:
- Health professionals dedicated to neurology (paediatric and adult) and/or inborn errors of metabolism and genetics
- Researchers in the field of neuroscience, biochemistry, and molecular biology
- Family Associations
Learning methods:
- Hybrid workshop, to be attended 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 needed.
The workshop is supported by the Networking Support Scheme the EJP RD – European Joint Programme on Rare Diseases.
The Workshop programme can be downloaded here. If you need, more information, please visit the workshop webpage.
