MORE RECORDED WEBINARS TO WATCH


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Spot the Early Signs - the Genetics of Neuromuscular Disorders

Session Format: Online Webinar ● Language: English ● Registration: Free

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

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

 


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The Pediatrician’s Role in Identifying and Understanding Gaucher Disease

Session Format: Online Webinar ● Language: English ● Registration: Free

Presenter
Prof. PRAMOD MISTRY, MD, PhD, FRCP, Professor of Medicine and Director of the Yale Lysosomal Disease Center and Gaucher Disease Treatment, United States

Learning Objectives: (1) A better understanding of the signs and symptoms of Gaucher disease. (2) Ability to identify the key diagnostic features of Gaucher disease. (3) Understanding the ‘next steps’ to take after a diagnosis of a Gaucher disease to maximize treatment for the patient.

 


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Individuare i segni delle malattie da accumulo lisosomiale - Malattia di Gaucher e popolazione pediatrica

Session Format: Online Webinar ● Language: Italian ● Registration: Free

Presenter
GIOVANNI CIANA, Specialist in Pediatrics, Regional Coordination Center for Rare Diseases, “S. Maria Delle Misericordia” Hospital Udine, Italy

Learning Objectives: (1) Gaucher disease in the pediatric population: useful signs to suspect it and make an early diagnosis (2) Differential diagnosis of the 3 clinical phenotypes (3) When to start therapy

 


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