Word: gaucher
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Dates: during 1990-1999
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Genzyme, a Cambridge biotechnology company which is currently the world's fourth largest, was formed in 1981 as an enzyme manufacturing company, Push says. The key breakthrough for Genzyme was the discovery of an enzyme called GCR, which was used to treat a rare disorder, Gaucher disease...
...enzyme that manages Gaucher's disease, a rare genetic disorder that affects the spleen, liver and bones. Currently, the illness is treated with one of the world's most expensive drugs, derived from the human placenta...
Potentially, the neural progenitor strategy could be used to treat this wider group of genetic ailments, which include Tay-Sachs, Gaucher's disease, galactosemia and dozens of other maladies that affect millions of people worldwide...
Most people are somewhat comfortable with the idea of testing for Tay-Sachs, a fatal, degenerative neurological condition that strikes young children. However, many question the utility of DNA screening for other conditions like Gaucher's disease. The symptoms of this painful degenerative disease almost never appear before a person's mid-40s, and Gaucher's is treatable. Should the distant prospects of non-fatal disease prevent a marriage between two people who love each other? Inevitably, the more diseases added to the list, the more marriages prevented...
...spite of the aggressive commercial campaign, a mere 800 of the 11,000 Gaucher's patients who need treatment have signed up for Ceredase. One who refused, Denver teacher Karen Guth, estimates she would need to spend $350,000 for the drug each year. "It's a terrible position to put human beings in," she says...