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How do you explain those rail-thin people who eat nothing but fish and vegetables, and who yet somehow manage to rack up dangerously high cholesterol levels? They suffer from an inherited disorder, called familial hypercholesterol. According to the World Health Organization, more than 10 million people, or one in 500, have the condition, which makes it one of the most common hereditary ailments in the West and probably worldwide. Diagnosis has been difficult because the condition can be triggered by at least 900 or so different genetic mutations, and those are only the ones scientists know about. "In some European countries there are two or three hundred mutations," says biologist Miguel Pocovi at the University of Zaragoza. Because Spain is less ethnically diverse than some other European countries, it has relatively few mutations--about 150 have been found--Pocovi and his colleagues were able to catalog them all in a national registry.
In October, the work will yield a practical benefit. The Spanish national pharmaceutical firm Laboratorio Lazer, based in Barcelona, is introducing a "biochip" that can detect ...
Source: HighBeam Research, An ounce of prevention.(biochip developed by Laboratorio Lazer can...