Gaucher disease type 3: a history revealing breakthrough treatment
Did you know 1 in 40,000 live births in the general population is diagnosed with Gaucher disease?
First discovered and described by the French dermatologist Phillipe Gaucher in 1882, Gaucher disease (pronounced go-shay) is a rare genetic disease passed down from parents to their children and caused by an enzyme deficiency in the lysosomes (the digestive system) within the cells.
Dr Pramod Mistry recently sat down with Check Rare to provide a brief history of Gaucher disease and an overview of how persons with Gaucher disease type 3 are managed.
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 organization for rare diseases