Duration: 35 minutes
Topic: Pediatric Neuromuscular Disorders
Speaker: FRANCESC PALAU, Director of the Institute for Pediatric Rare Diseases (IPER) and Head of the Genetics Department, Sant Joan de Déu Children's Hospital. CSIC Research Professor and Visiting Professor Pediatrics, University of Barcelona, Spain.
How to define the inheritance pattern of the neuromuscular disease,
How to guide genetic testing and diagnosis based in genomic approaches
How to offer genetic counselling to patients and parents.