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Gaucher Disease: A Mysterious Genetic Disorder

An inherited metabolic disorder known as Gaucher disease was first described by the French physician Philippe Gaucher in 1882. It is the most common of a class of diseases called lysosomal storage diseases. Gaucher disease is characterized by a wide array of symptoms and the severity of the disease ranges from undetectable to lethal. This devastating disease can affect any ethnic group; however the most common form of Gaucher disease is seen in people of eastern European (Ashkenazi) Jewish descent. In this program we will explore the history of this condition and meet patients who talk about their struggles with Gaucher Disease. We will also highlight the new treatments that are offering hope for people living with this mysterious condition.

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Health Body, Healthy Mind is provided for informational purposes only, and is not a substitute for professional medical advice, examination, diagnosis, or treatment. Always seek the advice of your physician or other qualified health professional before starting any new treatment or making any changes to existing treatment.