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Gaucher Disease Discovered
A video describing Gaucher Disease Symptoms - French Dr. Phillippe Gaucher diagnosed a 32-year olf female patient with an enlarged spleen and liver. This was not spleen cancer as originally thought - but it would be nearly 100 years later to understand all the aspects and Types of Gaucher Disease. -
Gaucher Disease recognized as 'Inherited'
Originally, there was not a defininitve answer whether or not Gaucher Disease was contagious or inhertied. As modern medicine continued to evolve, it was understood that both parents must carry the gene and there would be a percent change of passing the genes onto their children. We now know it is called "autosomoal recessive". -
First regcognized 'Type 2' Gaucher Patient
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'Type 3' Recognized in Patients
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Gaucher Disease Classified as an LSD
Lysosomal Storage Disease An LSD is a Lysosomal Storage Disorder. Gaucher Disease becomes classified as the most common LSD, despite it's overall rarity. This describes how the cells cannot break down the appropriate glucose in the cell - which causes the variety of other symptoms which make up Gaucher Disease -
Genzyme Opens
Genzyme opens as a small pharmachedical company with a focus on treating rare diseases - like Gaucher Disease. Today, they are still the lead drug company providing treatment for Gaucher Disease with Cerezyme and Cerdelga -
Gaucher Disease in Chromosone 1
It was discovered that the Genotype of Gaucher Disease can be concluded based on Chromosome 1. This makes for an easier and more exact diagnosis. -
Orphan Drug Act Signed into Law
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National Gaucher Foundation Established
Visit the National Gaucher Foundation Website The National Gaucher Foundation was established by and for patients and families with Gaucher Disease. They provide educational and financial assistance for Gaucher patients and have also been a huge advocate for the advancement of medicine. -
"Ceredese" named Orphan Drug for Gaucher Disease
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"Cerezyme" Approved by FDA
Cerezyme becomes the most effective drug to treat the symptoms of Gaucher Disease. It requires bi-weekly infusing treatments and is described as the most expensive drug on the market worldwide. -
Rare Diseases Act Passes
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Genzyme Haults Production
Genzyme experienced a viral contamination in the production of Cerezyme. There was no other treatment available for Gaucher Patients and their health begins to decline. -
Affordable Healthcare Act Passes
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Cerdelga Approved by FDA
There is now a oral medication available in the US This may greatly improve the quality of life for Gaucher Patients and be a great indication of things to come in rare diseases and orphan drugs
