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scientific articles

Connective Tissue Disease: Closing on the Threshold

key information

source: Canadian Medical Association Journal

year: 1993

authors: Robinson A


Dr. William G. Cole looks back 6 years to the misshapen frames of a Swiss baby and a transgenic mouse: “The changes in bone structure were almost identical. Then, you know, we found it surprising that structural mutations within collagen chains could result in such severe phenotypes in a child.”

John Bateman, of the Royal Children’s Hospital, and Rudy Jaenisch, of the Whitehead Institute, in Boston, used electronic mail, faxes and periodic visits to shrink the face of the globe, as well as imagination and the tools of molecular biology to create the world’s first transgenic mouse with osteogenesis imperfecta.’ Its malformations, especially those of the ribs, showed the same pattern of abnormality as that of a baby who had died in Switzerland. “And that made it an important mouse,” Cole continues. “Not, mind you, because it was transgenic. Researchers had already put growth hormone genes with various promoters into the germ lines of mice and had shown tissue-specific protein distribution, among other things.” The mouse was important because it was the first genetically engineered model of human genetic disease.

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