Gauchers Disease Awareness Day

 Philippe Charles Ernest Gaucher (1854–1918) was a French physician and dermatologist.

In 1882, while studying a young woman with massive splenomegaly, Gaucher identified an unusual population of large cells in the spleen. These cells had abundant cytoplasm and eccentric nuclei.

Roscoe O. Brady → established the enzyme deficiency, 1960s 

β-glucocerebrosidase → deficient enzyme

Dr. Brady is probably best known for having co-discovered the enzymatic defects in Gaucher disease, which subsequently led to his development of a successful enzyme replacement therapy (ERT).

                                                                            

Gauchers Disease 

Gaucher Cells

Wrinkled Tissue Paper Look

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