
Introducing
Steps towards a brighter future for patients with Gaucher disease
An interactive video experience
INTRODUCING
An interactive video experience |LAUNCH|
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INTERACTIVE
INTERACTIVE CASE STUDY SERIES |FIND OUT MORE|
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INTERACTIVE
INTERACTIVE CASE STUDY SERIES |FIND OUT MORE|
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INTERACTIVE
INTERACTIVE CASE STUDY SERIES |FIND OUT MORE|
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INTERACTIVE
INTERACTIVE CASE STUDY SERIES |FIND OUT MORE|
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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.|FIND OUT MORE|
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Artificial intelligence and machine learning are increasingly used across medicine and healthcare and may benefit patients with rare diseases, such as Gaucher disease.|FIND OUT MORE|
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CONGRESS REPORT
The WORLDSymposium™ was held as a hybrid meeting this year (7–11 February 2022)|READ MORE|
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BROCHURE
Early diagnosis is essential in implementing the appropriate patient assessment and management plans as soon as possible. |VIEW & DOWNLOAD BROCHURE|
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BROCHURE
Early diagnosis can reduce the likelihood of irreversible organ damage. Genetic counselling and carrier testing can help to achieve this. |VIEW & DOWNLOAD BROCHURE|
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New treatment modalities are currently being researched for Gaucher disease. The feasibility of gene therapy for Gaucher disease is currently under investigation.|FIND OUT MORE|
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FEATURED ARTICLE
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
Introducing
An interactive video experience
Interactive case study
Interactive case study
Interactive case study
Interactive case study
Infographic
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.
Infographic
Artificial intelligence and machine learning are increasingly used across medicine and healthcare and may benefit patients with rare diseases, such as Gaucher disease.
Events
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.
Brochure
Early diagnosis is essential in implementing the appropriate patient assessment and management plans as soon as possible.
Brochure
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.
Infographic
New treatment modalities are currently being researched for Gaucher disease. The feasibility of gene therapy for Gaucher disease is currently under investigation.
Events
Transforming Rare Disorders (21–24 November 2021)
Events
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.
Events
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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