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Shaping care: From the first treatment to global impact, putting Gaucher on the map

Robin Ely, MD, shares her journey with Gaucher disease, from her child’s groundbreaking treatment to cofounding the National Gaucher Foundation. She reflects on advocacy, discovery, and the drive to change what’s possible. 

Transcript

Hi everybody. My name is Dr. Robin Ely and I am the cofounder of the National Gaucher Foundation. I am also the clinical director of our Global Diagnostic and Treatment Initiative. And I am also the mother of the first individual who was given enzyme replacement therapy, which was developed at the National Institutes of Health and commercialized by a particular corporation called Genzyme.

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And basically, we work together to really put Gaucher disease on the map, and as a result, we put lysosomal disorders on the map as well.

First of all, the syndrome was identified in the 1800s, and it was identified by a physician in France named Dr. Phillippe Gaucher, which is why it’s called after his name. And he saw a patient with a series of symptoms, and he identified it as a syndrome.

In the 1960s at NIH by Dr. Roscoe Brady, the enzyme that was found to be deficient in Gaucher disease was identified, and that enzyme is called glucocerebrosidase, which means a molecule that breaks down combination lipid and glucose molecules.

It also, as it was later found out, that this disorder is triggered by mutations in the gene, which is called GBA, and this gene codes for the enzyme. And when it first was discovered, there were about four identified mutations. Now there are almost 2,000 particular gene mutations that have been diagnosed all over the world, actually.

And it is a panethnic disorder, which means all ethnic groups can get Gaucher. But it is particularly found in Ashkenazi Jews. In the Ashkenazi Jews, there are about four common mutations. But we have patients in the African American and African in Africa community. We had patients in Japan, we had patients in China, Korea, all of Latin America, certainly all of Europe. There’s no place in the whole world that these mutations have not been found.

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