“MUSCLE GLYCOGENOSIS: FROM DIAGNOSIS TO TREATMENT”
Scientific Organising Committee :
Prof. Pascal Laforêt, Paris
Prof. Nadine van der Beek, Rotterdam
Prof. Ans van der Ploeg, Rotterdam
Prof. John Vissing, Copenhagen
Description :
Muscle glycogenosis (GSDs) is an important group of potentially treatable inherited muscle disorders affecting children and adults.
Major advances have been achieved in the diagnosis of these disorders over the past years thanks to improvements in biochemical and molecular techniques.
Better understanding of the phenotypes and clinical course of the various glycogenosis has led to improved multidisciplinary approach to care, follow-up and improved outcomes.
Depending on the aetiologies, various therapeutic approaches are available such as specific diets, enzyme replacement therapy, exercise, and novel drugs or gene therapy are in the pipeline.
Dates : 13-15 April 2023 (in-person meeting)
Fee : 350€ (includes 2 nights, all meals during the course and presentations to take away)
Programme : see pdf
Registration : www.rrd-foundation.org
Thanks very much, as always.
Best wishes,
Cecilia
Cecilia Kellquist
Recordati Rare Diseases Foundation
Project Manager/member of the board of directors
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