Gaucher disease is a rare, inherited metabolic disorder and is classified as a type of lysosomal storage disease known as sphingolipidosis.1 The worldwide prevalence of Gaucher disease varies by geography, but generally ranges from 0.70 to 1.75 per 100,000 individuals, and is substantially higher among the Ashkenazi Jewish population.2-4This website provides educational resources intended for healthcare professionals outside of the US and UK with an interest in Gaucher disease. It aims to share scientific advances in Gaucher disease research and provide expert opinions and medical education to support the healthcare professional community.

C-ANPROM/INT//7571; Date of preparation: November 2021

 
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Introducing

Steps towards a brighter future for patients with Gaucher disease

 

An interactive video experience

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Interactive case study

Getting the diagnosis right in children & adolescents
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Interactive case study

Haematological malignancies
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Interactive case study

Gaucher disease & Parkinson's disease
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Interactive case study

Getting the diagnosis right in adults
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Infographic

Genetics of Gaucher disease


There is genotypic and phenotypic variation among patients with Gaucher disease, with genetic modifiers thought to be important in determining the phenotypic outcome of the disease.

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Advances in technologies


Artificial intelligence and machine learning are increasingly used across medicine and healthcare and may benefit patients with rare diseases, such as Gaucher disease.

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Events

WORLDSymposiumTM 2022 congress reports

 

The WORLDSymposium™ was held as a hybrid meeting this year (7–11 February 2022) and brought together key opinion leaders from the field of lysosomal disorders and rare diseases.

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Brochure

Diagnosing Gaucher disease


Early diagnosis is essential in implementing the appropriate patient assessment and management plans as soon as possible.

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Brochure

Diagnosing Gaucher disease in siblings


Early diagnosis can reduce the likelihood of irreversible organ damage and serious complications, as well as chronic pain and disabling symptoms. Genetic counselling and carrier testing can help to achieve this.

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Infographic

Gene therapy


New treatment modalities are currently being researched for Gaucher disease. The feasibility of gene therapy for Gaucher disease is currently under investigation.

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Events

14th international congress of inborn errors of metabolism (ICIEM)


Transforming Rare Disorders (21–24 November 2021)

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Events

WORLDSymposiumTM 2021 congress reports


The WORLDSymposiumTM was held as a virtual meeting this year (7–12 February 2021) and brought together key opinion leaders from the field of lysosomal disorders and rare diseases.

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Events

The 14th European Working Group on Gaucher Disease (EWGGD) congress reports


The EWGGD was held as a virtual meeting for 2020 (12–13 October 2020) and covered key topics in the field of Gaucher disease.

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