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Human Genome News, January 1998; 9:(1-2)
DOE's investment in building a highly detailed human genetic roadmap for Chromosome 19 is paying off. For the second time in three months, Lawrence Livermore National Laboratory (LLNL) scientists have teamed with international collaborators (this time at the Karolinska Institute in Stockholm, Sweden and the University of Oulu in Oulu, Finland) to pinpoint the location of a gene on chromosome 19 responsible for causing a disease, congenital nephrotic syndrome, a deadly kidney disease. The disease usually leads to death by age 2. This particular form of kidney disease is most prevalent in Finland, striking about one in 10,000 children. "What is particularly important about this gene find," said LLNL biomedical scientist Anne Olsen, "is that the mutated protein that's been found may be a key to how the human kidney filtration process works. It may have relevance far beyond this disease by offering insights into what happens with other kidney ailments." The discovery has already permitted the development of a diagnostic tool to test for the gene in parents who may be carriers of the disease, the paper's authors reported. ER Contact: Dan Drell, ER-72, (301) 903-4742
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Human Genome Program, U.S. Department of Energy, Human Genome News (v9n1).
The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.