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Learn about Fabry disease

We want to give you the tools to learn about MPS, Fabry and related diseases so people with the condition can receive a faster diagnosis and improved access to treatments.

Current modules include:

  • Fabry disease overview

  • When to suspect Fabry disease

  • Testing for Fabry disease

  • Genotype-phenotype relationship

  • Treating Fabry disease

To receive your completion certificate fill in the feedback form with your completion code.

Course contents from Prof Derralynn Hughes with the design support of Radical Departures as part of a joint working agreement with Amicus Therapeutics Ltd. Amicus Therapeutics Ltd had no contribution to the content or design of the programme.

Fabry disease overview module

This module will introduce you to lysosomal storage disorders (LSDs), provide an overview of the aetiology and pathophysiology of Fabry disease, as well as diagnosis and management. 

When to suspect Fabry disease

Learn about the reasons for diagnostic delay in Fabry disease, the early and late indicators of Fabry disease, and how patients are referred and tested in order to gain a diagnosis.

Testing for Fabry disease

An overview of how consent for testing patients is established, what a diagnosis of Fabry disease can mean for patients and their families, as well as the different types of tests carried out in order to confirm diagnosis.

Genotype-phenotype relationship

An introduction to how mutations in the GLA gene result in the development of Fabry disease, determining the pathogenicity of mutations, predicting phenotype based on patients' genotype, as well as variants of unknown significance (VUS). 

Treating Fabry disease

This module will provide an overview of the indications and goals of treatment of Fabry disease, currently available Fabry disease-specific treatments and therapies under investigation. 

Module feedback form

Complete the feedback form to request your module completion certificate

Found this useful?

If you found this course useful please share it with colleagues. Send a link to the course and help to educate more professionals about Fabry. You can also sign up to hear more from MPS Society.