The Recordati Rare Diseases foundation Focus Course on SYNAPTIC METABOLISM AND BRAIN CIRCUITRIES IN IEM: EXPLORING OLD AND NEW DISORDERs is held  on 16 – 18 November in Barcelona, Spain.

The course will focus on the synapse as a highly specialized structure with specific chemical composition and metabolic functions necessary for an appropriate neuronal communication and brain development. After on overview on the synaptic function and characteristics the course will highlight pre and postsynaptic dysfunction in inborn errors of metabolism both from the clinical and the basic research perspective.

Learning objectives:

.               To learn the basis of neuronal communication in IEM and to understand that this is not restricted to the synthesis, catabolism and transport of the “classic neurotransmitters”.

.               To introduce new categories of neurometabolic diseases based on the description of biochemical pathways, trafficking and signaling functions at the synapse, and to recognize the main clinical manifestations.

.               To learn how neurometabolic diseases affect the brain as a whole system through the study of neuronal connectivity.

.               Insight into new therapeutic strategies such as neuromodulation in IEM.

Target audience and participant profile:

The target audience of this course involves metabolic physicians, paediatricians, neurologists and paediatric neurologists as well as laboratory neuroscientists, biochemical geneticists, biochemists and laboratory geneticists. Participants are expected to have prior knowledge about the field, practical experience with diagnosis treatment, and/or basic research is recommended. Participants will be able to attend workshops. Participants will also have the opportunity to present and discuss case presentations.

The full course details and online registration can be accessed on our website:

Online registration:

By |2018-11-08T08:44:18+00:00July 19th, 2017|