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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  • Upcoming events

    Wednesday, October 25, 2017 at 01:00 PM

    Boli de stocare lizozomala fara incadrare diagnostica - Studii de caz pentru pediatrie din prisma geneticii clinice

    Session Format: Online Webinar
    Date: October 25, 2017 
    Time: 13:00 (CEST)
    Language: Romanian
    Registration: Free

    Vasilica_Plaiasu.jpgPrezentator: Vasilica Plaiasu, Clinical Geneticist, Regional Center of Medical Genetics Bucharest, INSMC Alessandrescu-Rusescu, Pediatrics Department, Bucharest, Romania

    Înregistrați-vă aici și rezervați-vă locul. Este gratis
    Biografia prezentatorului
    Obiective de invatare: (1) Clasificarea bolilor de stocare lizozomala (2) Profilul clinic al bolilor de stocare lizozomala (3) Algoritmul specific pentru investigarea si diagnosticarea bolilor de stocare lizozomala; posibilitati de tratament (4) Cazuri rare selectate - scurte prezentari

    Friday, October 27, 2017 at 01:00 PM

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

    Session Format: Online Webinar
    Date: October 27, 2017 
    Time: 13:00 (CEST)
    Language: English
    Registration: Free

    Kircher_Susanne_2017.jpegPresenter: Susanne Kircher, Ao.Univ. Prof. DDr. MBA, LSD, Center of Pathobiochemistry and Genetics, Medical University of Vienn, Austria

    Register here and book your place. It's free 

    Presenter's Biography

    Learning Objectives:  (1) A short overview about the different types of mucopolysaccharidoses (2) How to recognize a young child with a mucopolysaccharidosis? (3) How can I get the diagnosis confirmed and why is this important for me as a pediatrician?

    Pistas precoces para o diagnóstico de Doenças Lisossomais de Sobrecarga - o papel dos biomarcadores

    Session Format: Online Webinar
    Date: November 3, 2017 
    Time: 13:00 (CEST)
    Language: Portuguese
    Registration: Free

    Photo.jpgApresentador: Patrício Aguiar MD, Consulta de Doenças Hereditárias do Metabolismo do adulto,Centro de Referência em Doenças Hereditárias do Metabolismo, Centro Hospitalar Lisboa Norte, Lisboa, Portugal

    Registre-se aqui e reserve seu lugar. É grátis

    Biografia do apresentador

    Objetivos de aprendizado: (1) Quais são os sinais precoces de Doença Lisossomal de Sobrecarga nas formas infantis e nos fenótipos atenuados? (2) Quais são os diagnósticos erróneos establecidos mais frequentemente em doentes com Doenças Lisossomais de Sobrecarga? (3) Serão os biomarkers substitutos confiáveis na avaliação do envolvimento precoce em doentes com Doenças Lisossomais de Sobrecarga?


  • new

    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

  • new

    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

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