Presenter: 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.
Session Format: Online Webinar
Recorded: September 27, 2017
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
The webinar is part of the Excellence in Pediatrics Peer2 Peer Education Program to train frontline healthcare professionals to early detect, diagnose and refer children with serious conditions. The program aims to fight under-diagnosed or late-diagnosed conditions for which treatments are available and early detection and early treatment could make significant difference in the condition development, the quality of life and the survival of the patients.