Introducing
Steps towards a brighter future for patients with Gaucher disease
An interactive video experience
INTRODUCING
STEPS TOWARDS A BRIGHTER FUTURE FOR PATIENTS WITH GAUCHER DISEASE
An interactive video experience |LAUNCH|
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INTERACTIVE
GETTING THE DIAGNOSIS RIGHT IN CHILDREN & ADOLESCENTS
INTERACTIVE CASE STUDY SERIES |FIND OUT MORE|
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INTERACTIVE
GAUCHER DISEASE & MULTIPLE MYELOMA
INTERACTIVE CASE STUDY SERIES |FIND OUT MORE|
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INTERACTIVE
GAUCHER DISEASE & PARKINSON'S DISEASE
INTERACTIVE CASE STUDY SERIES |FIND OUT MORE|
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INTERACTIVE
GETTING THE DIAGNOSIS RIGHT IN ADULTS
INTERACTIVE CASE STUDY SERIES |FIND OUT MORE|
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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.|FIND OUT MORE|
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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.|FIND OUT MORE|
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CONGRESS REPORT
WORLDSymposium™ 2022
The WORLDSymposium™ was held as a hybrid meeting this year (7–11 February 2022)|READ MORE|
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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. |VIEW & DOWNLOAD BROCHURE|
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BROCHURE
DIAGNOSING GAUCHER DISEASE IN SIBLINGS
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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GENE THERAPY
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
- Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci 2017; 18: 441.
- Nalysnyk L, Rotella P, Simeone JC, et al. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology 2017; 22: 65-73.
- Zimran A, Gelbart T, Westwood B, et al. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet 1991; 49: 855-859.
- Zimran A, Elstein D. Gaucher disease and related lysosomal storage diseases. In: Kaushansky K, Lichtman M, Prchal J, et al., eds. Williams Hematology. 9th ed; New York, NY: McGraw-Hill, 2016.
Interactive case study
Getting the diagnosis right in children & adolescents
Interactive case study
Haematological malignancies
Interactive case study
Gaucher disease & Parkinson's disease
Interactive case study
Getting the diagnosis right in adults
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.
Infographic
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.
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.
Brochure
Diagnosing Gaucher disease
Early diagnosis is essential in implementing the appropriate patient assessment and management plans as soon as possible.
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.
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.
Events
14th international congress of inborn errors of metabolism (ICIEM)
Transforming Rare Disorders (21–24 November 2021)
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.
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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