Treatable neurometabolic diseases – Recordati Rare Diseases Foundation course 6-8 October 2022

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The course on treatable neurometabolic diseases offered by Recordati Rare Diseases Foundation will take place in person from 6 to 8 October 2022 in Buenos Aires, Argentina. This course will review the current management of a range of inherited neurometabolic diseases and discuss what can be expected of treatment and what limitations remain.

Inherited neurometabolic disorders represent a rapidly growing group of genetic conditions and many of them are potentially treatable. To date, more than 1,450 disorders have been included in the International Classification of Inherited Metabolic Disorders (ICIMD) and most of them exhibit some degree of neurological involvement. Advances in genetics have revolutionized the way we understand, diagnose, and manage these inherited neurometabolic disorders. Dietary treatments, small molecules, enzyme replacement, organ transplantation and other biological approaches are now available as approved therapeutic options for many disorders. Gene therapy approaches are also in a very advanced stage of development. Early detection and early intervention in these diseases are invaluable in achieving better clinical outcomes, but also timely assessments using the appropriate tools are critical in terms to monitor and optimize treatment results. 

The target audience of this course involves neuroscientists, metabolic physicians, paediatricians, neurologists and child 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.

The deadline for registration is the 26th of August 2022. 

For more information and registration, please visit the Recordati Rare Diseases Foundation website.