La lutte contre l'errance diagnostique

mercredi 27 mars 2019
27-PM-Parallel-1 16h30 > 18h00 La lutte contre l'errance diagnostique Amphi A

16h30 S13-01 Targeted therapies for rare neuromuscular disorders – first steps towards a treatabolome > H. Hanns LOCHMULLER (Ottawa, Canada) 17h00 S13-02 Genetic Landscape of Limb Girdle Muscular Dystrophies > M. Madhuri HEGDE (Waltham, Usa)
Objectifs : 1. Understanding the diagnostic yield from genetic testing
2. Genetic heterogeneity - from single gene to multigene contribution
3. Whole Genome Sequencing in neuromuscular disorders
17h30 S13-03 Spinal Muscular Atrophy : A challenging disease for Newborn screening ? > L. Laurent SERVAIS (Liège, Paris)

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