Spot the Early Signs Education Program

The course is part of the Excellence in Pediatrics Institute's Peer2 Peer Education Program to train frontline healthcare professionals to detect, diagnose and refer children with serious conditions as early as possible.

The program aims to fight under-diagnosed or late-diagnosed conditions for which treatments are available and where early detection and early treatment could make a significant difference in the condition's development, the quality of life and the survival of patients.  

Spot the Early Signs of Metabolic Disorders

The course focuses on Metabolic Disorders covering Lysosomal Storage Disorders, with a focus on Fabry, Gaucher and MPS diseases. 

Learning Objectives: 

  1. Learn when Common Complaints are the Signs of Lysosomal Storage Diseases 
  2. Learn the Pediatrician’s Role in Identifying Gaucher Disease
  3. Learn the Physician's role in Identifying Fabry Disease
  4. Learn the Pediatrician’s Role in Identifying MPS Diseases

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  • New Videos

    Spot the Early Signs of Mucopolysaccharidoses - One Disease with Many Faces

    Recorded Webinar presented by: Susanne Kircher, Ao.Univ. Prof. DDr. MBA, LSD, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Austria 
    Read more and watch the video

    Spotting the Signs of Inborn Errors of Metabolism in neonates and infants

    Presenter: Maria Gizewska, Professor, Vice Head of the Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Poland. 
    Read more and watch the video

    When Common Complaints are the Signs of Lysosomal Storage Diseases

    Amel Karaa, Clinical Director, Lysosomal Storage Diseases Program Massachusetts General Hospital & Instructor of Medicine Harvard Medical School
    Read more and watch the video

    Mucopolysaccharidoses: A Primer for Pediatricians

    RECORDED WEBINAR  Presenter: Joseph Muenzer, MD, PhD, Professor of Pediatrics and Genetics, Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina. 
    Read more and watch the video

    The Pediatrician’s Role in Identifying and Understanding Gaucher Disease

    Pramod Mistry, MD, PhD, FRCP, Professor of Medicine and Director of the Yale Lysosomal Disease Center and Gaucher Disease Treatment.  
    Read more and watch the video

    Spot the Early Signs - the Genetics of Neuromuscular Disorders

    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. 
    Read more and watch the video
    See all videos

  • New Videos

    Boli de stocare lizozomala fara incadrare diagnostica - Genetica clinică

    Prezentator: Vasilica Plaiasu, Clinical Geneticist, Regional Center of Medical Genetics Bucharest, INSMC Alessandrescu-Rusescu, Pediatrics Department, Bucharest, Romania
    Read more and watch the video

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

    Presentatore: Giovanni Ciana, Medico specialista in Pediatria, Centro Coordinamento Regionale Malattie Rare, Ospedale “S.Maria delle Misericordia“ Udine, Italia.
    Read more and watch the video
    See all videos

  • New Videos

    What Fabry Disease is

    A video to help you better understand of the signs and symptoms of Fabry disease, how to identify the key diagnostic features of Fabry disease, and the complexities and differences between males and females.
    Read more and watch the video

    Anisa’s Story

    Anisa is a young girl from Canada living with Mucopolysaccharidosis (MPS) Type I. Anisa and her mother, Jen, share their story from Anisa’s first symptoms to her diagnosis just after her first birthday – and a life filled with playing dress up, dance, and hide and seek. 
    Read more and watch the video
    See all videos

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