Events
WORLDSymposiumTM 2021 congress reports
The WORLDSymposium™ 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.
INTRODUCING
STEPS TOWARDS A BRIGHTER FUTURE FOR PATIENTS WITH GAUCHER DISEASE
An interactive video experience |LAUNCH|
CONGRESS REPORT
WORLDSymposium™ 2021
The WORLDSymposium™ was held in a virtual setting for 2021.|READ MORE|
INTRODUCING
BURDEN OF DISEASE
Gaucher disease is a rare, inherited metabolic disorder and is classified as a type of lysosomal storage disease known as sphingolipidosis.|READ MORE|
INTRODUCING
DIFFERENTIAL DIAGNOSIS
Early diagnosis of Gaucher disease is essential in implementing the appropriate patient assessment and management plans as soon as possible. |READ MORE|
INTRODUCING
DISEASE MANAGEMENT
The introduction of enzyme replacement therapy and substrate reduction therapy has enhanced the management of Gaucher disease|READ MORE|
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/SG/GAUD/0004; 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.
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.