Spot the Early Signs - the Genetics of Neuromuscular Disorders
Language: English● 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.
|Learning Objectives: (1) How to define the inheritance pattern of the neuromuscular disease, (2) How to guide genetic testing and diagnosis based in genomic approaches (3) How to offer genetic counselling to patients and parents.|