The three types of Gaucher disease: all you need to know

Genetic mutation

There are three main types of Gaucher Disease. The most common that we know of in the Western world is Type 1 Gaucher disease.

Gaucher disease is a rare genetic condition passed down from parents to their children. In this scenario, when both parents are carriers (who are healthy with one Gaucher disease gene defect) have a baby, there is a one in four chance of having a baby with Gaucher disease.

Dr Pramod Mistry recently sat down with Check Rare to discuss and provide in-depth insight into Gaucher Disease Type 1, Type 2 and Type 3.

Watch the video below to learn more.


Getting advice

If you or a loved one has or is suspected to have Gaucher disease, please get in touch. Our team will answer any questions you have, support, inform and guide you every step of the way.

In the meantime, here are a few resources for further information and support:

· National Gaucher Foundation

· National organization for rare diseases

· Gaucher Community Alliance






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Gaucher disease type 1 and 3: ERT shows promising long-term efficacy

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Gaucher disease type 3: a history revealing breakthrough treatment