An online guide to the rare genetic disorder NEW Visit our Literature Section for a link to an interesting and important new Research Article on Cancer Risk in adults with Type 1 Gaucher Disease. We are attending the WORLD Symposium ™ 2023 Annual Meeting in Orlando, Florida #WORLDSymposia. Connect with us there. https://worldsymposia.org/ Contact us via LinkedIn or by email. Introduction What is Gaucher Disease?
GD is a genetic disorder caused by a recessive mutation in the GBA gene located on chromosome 1. It is a rare disorder and patients with GD may present with a broad range of signs and symptoms. These may include enlarged spleen and liver, liver malfunction, skeletal disorders or bone lesions that may be painful, severe neurological complications, swelling of lymph nodes, anemia and low blood platelet count. Persons seriously affected may also be more susceptible to infection.
Learn More Who is the platform for?
This platform will share information to support the care of patients with Gaucher Disease (GD).
It has been developed by the European GD Network, an EHA SWG GD Task Force, as a trusted online resource for everyone involved in the care of Gaucher Disease patients.
The content of the Platform is available for:
Hematologists, clinical nurse specialists and other healthcare professionals (HCPs).
GD patients, their family, friends, carers (care-givers) and GD patient advocacy groups.
Overview The Key Facts
GD is the most common lysosomal storage disorder. Early recognition and treatment remains an obstacle.
Misdiagnosis and associated unrequired tests and procedures usually occur before a definitive diagnosis of GD has been made.
Identifying the effective practices by an Expert Group of specialists in the treatment and care of GD is a priority.
International Advisory Committee
Sam Salek (Chair)
Argiris Symeonidis (Co-Chair)