"More than ten years later, patients with Gaucher disease are still coming for therapy, " says Meeker.

FORBES: Magazine Article

With Cerezyme, Genzyme began by figuring out what kind of doctors patients with Gaucher disease visit.

FORBES: Magazine Article

Gaucher disease occurs in people who do not produce enough of an enzyme called glucocerebrosidase.

FORBES: Pfizer Enters Market For Super-Expensive, Ultra-Rare Disease Drugs -- With A Price Cut

Type 1 Gaucher disease is estimated to affect about 6, 000 people in the United States.

FORBES: Pfizer Enters Market For Super-Expensive, Ultra-Rare Disease Drugs -- With A Price Cut

In 1991, when it first launched Cerezyme for Gaucher disease, which afflicts a mere 6, 000 people worldwide, many thought sales wouldn't amount to much.

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Pfizer and its partner, Protalix BioTherapeutics, just got some good news from the Food and Drug Administration: Elelyso, a treatment for a rare genetic disorder called Gaucher disease, was approved.

FORBES: Pfizer Enters Market For Super-Expensive, Ultra-Rare Disease Drugs -- With A Price Cut

Elelyso is an injection that replaces the missing enzyme in patients with a confirmed diagnosis of Type 1 (non-neuropathic) Gaucher disease and should be administered by a health care professional every other week.

FORBES: Pfizer Enters Market For Super-Expensive, Ultra-Rare Disease Drugs -- With A Price Cut

The finding that may cause most controversy, however, is that in the Asian groups there has been strong selection for one variant of a gene that, in a different form, is responsible for Gaucher's disease.

ECONOMIST: Human evolution

"Stem cell research has the potential to act as the key which opens the door to many advances in our knowledge and our ability to treat some of the most heart-rending conditions that are presently untreatable, " said the Aberdeen South MP, who suffers from a genetic condition called Gaucher's disease which results in brittle bones.

BBC: MPs vote to extend embryo research