SOCIETY FOR THE STUDY
OF INBORN ERRORS OF METABOLISM

The aim of the society is to foster the study of inherited
metabolic disorders and related topics.


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14 - 16 May 2020

NEUROMETABOLIC DISEASES "it's all in the brain"

Barcelona

Scientific Organising Committee:

  • José Ramón Alonso, University of Salamanca
  • Angeles García-Cazorla, Sant Joan de Déu Hospital, Barcelona
  • Fanny Mochel, Pitié-Salpêtrière Hospital, Paris


Target audience:
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.

Learning objectives:
The aims of this teaching course are:

  • To provide an updated overview of the rapidly growing and changing field of neurometabolic diseases with a special focus on therapies.
  • To describe the main neurological manifestations of these diseases at any age (from infants to adults and the old age).
  • To describe the biological basis of neurometabolic diseases and provide tools to understand the connection between cell neurobiology and biochemistry.  Accordingly, to describe biological concepts such as trafficking, quality control systems (autophagy, molecule repair systems...), signalling...
  • To introduce elementary neuroscience concepts of brain physiology.
  • To discuss the most recent technical innovations in the diagnosis, characterization and treatment of these diseases (advanced neuroimage techniques, brain stimulation, bioinformatic tools, gene therapy...)


The full course details and and online registration can be accessed on our website: www.rrd-foundation.org. Deadline for registering is 12thof March.

Contact:
Cecilia Kellquis, Recordati Rare Diseases foundation: This email address is being protected from spambots. You need JavaScript enabled to view it.

 

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  • 1

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SSIEM Academy Course 2020

20 - 21 April 2020
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Society for the Study of Inborn
Errors of Metabolism (SSIEM)
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London SE1 2TU

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